Results of search for 'au:"PHILIPPE, M"' › مکتبة رقمیه للعلوم الطبيه catalog

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	641.	Surgery in reference centers improves survival of sarcoma patients: a nationwide study. [electronic resource] by Blay, J-Y Honoré, C Stoeckle, E Meeus, P Jafari, M Gouin, F Anract, P Ferron, G Rochwerger, A Ropars, M Carrere, S Marchal, F Sirveaux, F Di Marco, A Le Nail, L R Guiramand, J Vaz, G Machiavello, J-C Marco, O Causeret, S Gimbergues, P Fiorenza, F Chaigneau, L Guillemin, F Guilloit, J-M Dujardin, F Spano, J-P Ruzic, J-C Michot, A Soibinet, P Bompas, E Chevreau, C Duffaud, F Rios, M Perrin, C Firmin, N Bertucci, F Le Pechoux, C Le Loarer, F Collard, O Karanian-Philippe, M Brahmi, M Dufresne, A Dupré, A Ducimetière, F Giraud, A Pérol, D Toulmonde, M Ray-Coquard, I Italiano, A Le Cesne, A Penel, N Bonvalot, S Producer: 20200623 In: Annals of oncology : official journal of the European Society for Medical Oncology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	642.	The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. [electronic resource] by Weiss, Karin Lazar, Hayley P Kurolap, Alina Martinez, Ariel F Paperna, Tamar Cohen, Lior Smeland, Marie F Whalen, Sandra Heide, Solveig Keren, Boris Terhal, Pauline Irving, Melita Takaku, Motoki Roberts, John D Petrovich, Robert M Schrier Vergano, Samantha A Kenney, Amy Hove, Hanne DeChene, Elizabeth Quinonez, Shane C Colin, Estelle Ziegler, Alban Rumple, Melissa Jain, Mahim Monteil, Danielle Roeder, Elizabeth R Nugent, Kimberly van Haeringen, Arie Gambello, Michael Santani, Avni Medne, Līvija Krock, Bryan Skraban, Cara M Zackai, Elaine H Dubbs, Holly A Smol, Thomas Ghoumid, Jamal Parker, Michael J Wright, Michael Turnpenny, Peter Clayton-Smith, Jill Metcalfe, Kay Kurumizaka, Hitoshi Gelb, Bruce D Baris Feldman, Hagit Campeau, Philippe M Muenke, Maximilian Wade, Paul A Lachlan, Katherine Producer: 20210111 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	643.	BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. [electronic resource] by Lessel, Davor Gehbauer, Christina Bramswig, Nuria C Schluth-Bolard, Caroline Venkataramanappa, Sathish van Gassen, Koen L I Hempel, Maja Haack, Tobias B Baresic, Anja Genetti, Casie A Funari, Mariana F A Lessel, Ivana Kuhlmann, Leonie Simon, Ruth Liu, Pentao Denecke, Jonas Kuechler, Alma de Kruijff, Ineke Shoukier, Moneef Lek, Monkol Mullen, Thomas Lüdecke, Hermann-Josef Lerario, Antonio M Kobbe, Robin Krieger, Thorsten Demeer, Benedicte Lebrun, Marine Keren, Boris Nava, Caroline Buratti, Julien Afenjar, Alexandra Shinawi, Marwan Guillen Sacoto, Maria J Gauthier, Julie Hamdan, Fadi F Laberge, Anne-Marie Campeau, Philippe M Louie, Raymond J Cathey, Sara S Prinz, Immo Jorge, Alexander A L Terhal, Paulien A Lenhard, Boris Wieczorek, Dagmar Strom, Tim M Agrawal, Pankaj B Britsch, Stefan Tolosa, Eva Kubisch, Christian Producer: 20190715 In: Brain : a journal of neurology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	644.	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. [electronic resource] by Lennox, Ashley L Hoye, Mariah L Jiang, Ruiji Johnson-Kerner, Bethany L Suit, Lindsey A Venkataramanan, Srivats Sheehan, Charles J Alsina, Fernando C Fregeau, Brieana Aldinger, Kimberly A Moey, Ching Lobach, Iryna Afenjar, Alexandra Babovic-Vuksanovic, Dusica Bézieau, Stéphane Blackburn, Patrick R Bunt, Jens Burglen, Lydie Campeau, Philippe M Charles, Perrine Chung, Brian H Y Cogné, Benjamin Curry, Cynthia D'Agostino, Maria Daniela Di Donato, Nataliya Faivre, Laurence Héron, Delphine Innes, A Micheil Isidor, Bertrand Keren, Boris Kimball, Amy Klee, Eric W Kuentz, Paul Küry, Sébastien Martin-Coignard, Dominique Mirzaa, Ghayda Mignot, Cyril Miyake, Noriko Matsumoto, Naomichi Fujita, Atsushi Nava, Caroline Nizon, Mathilde Rodriguez, Diana Blok, Lot Snijders Thauvin-Robinet, Christel Thevenon, Julien Vincent, Marie Ziegler, Alban Dobyns, William Richards, Linda J Barkovich, A James Floor, Stephen N Silver, Debra L Sherr, Elliott H Producer: 20200824 In: Neuron vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	645.	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. [electronic resource] by Burrage, Lindsay C Reynolds, John J Baratang, Nissan Vida Phillips, Jennifer B Wegner, Jeremy McFarquhar, Ashley Higgs, Martin R Christiansen, Audrey E Lanza, Denise G Seavitt, John R Jain, Mahim Li, Xiaohui Parry, David A Raman, Vandana Chitayat, David Chinn, Ivan K Bertuch, Alison A Karaviti, Lefkothea Schlesinger, Alan E Earl, Dawn Bamshad, Michael Savarirayan, Ravi Doddapaneni, Harsha Muzny, Donna Jhangiani, Shalini N Eng, Christine M Gibbs, Richard A Bi, Weimin Emrick, Lisa Rosenfeld, Jill A Postlethwait, John Westerfield, Monte Dickinson, Mary E Beaudet, Arthur L Ranza, Emmanuelle Huber, Celine Cormier-Daire, Valérie Shen, Wei Mao, Rong Heaney, Jason D Orange, Jordan S Bertola, Débora Yamamoto, Guilherme L Baratela, Wagner A R Butler, Merlin G Ali, Asim Adeli, Mehdi Cohn, Daniel H Krakow, Deborah Jackson, Andrew P Lees, Melissa Offiah, Amaka C Carlston, Colleen M Carey, John C Stewart, Grant S Bacino, Carlos A Campeau, Philippe M Lee, Brendan Producer: 20191218 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	646.	Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. [electronic resource] by Bell, Scott Rousseau, Justine Peng, Huashan Aouabed, Zahia Priam, Pierre Theroux, Jean-Francois Jefri, Malvin Tanti, Arnaud Wu, Hanrong Kolobova, Ilaria Silviera, Heika Manzano-Vargas, Karla Ehresmann, Sophie Hamdan, Fadi F Hettige, Nuwan Zhang, Xin Antonyan, Lilit Nassif, Christina Ghaloul-Gonzalez, Lina Sebastian, Jessica Vockley, Jerry Begtrup, Amber G Wentzensen, Ingrid M Crunk, Amy Nicholls, Robert D Herman, Kristin C Deignan, Joshua L Al-Hertani, Walla Efthymiou, Stephanie Salpietro, Vincenzo Miyake, Noriko Makita, Yoshio Matsumoto, Naomichi Østern, Rune Houge, Gunnar Hafström, Maria Fassi, Emily Houlden, Henry Klein Wassink-Ruiter, Jolien S Nelson, Dominic Goldstein, Amy Dabir, Tabib van Gils, Julien Bourgeron, Thomas Delorme, Richard Cooper, Gregory M Martinez, Jose E Finnila, Candice R Carmant, Lionel Lortie, Anne Oegema, Renske van Gassen, Koen Mehta, Sarju G Huhle, Dagmar Abou Jamra, Rami Martin, Sonja Brunner, Han G Lindhout, Dick Au, Margaret Graham, John M Coubes, Christine Turecki, Gustavo Gravel, Simon Mechawar, Naguib Rossignol, Elsa Michaud, Jacques L Lessard, Julie Ernst, Carl Campeau, Philippe M Producer: 20200206 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	647.	Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. [electronic resource] by Aref-Eshghi, Erfan Kerkhof, Jennifer Pedro, Victor P Barat-Houari, Mouna Ruiz-Pallares, Nathalie Andrau, Jean-Christophe Lacombe, Didier Van-Gils, Julien Fergelot, Patricia Dubourg, Christèle Cormier-Daire, Valerie Rondeau, Sophie Lecoquierre, François Saugier-Veber, Pascale Nicolas, Gaël Lesca, Gaetan Chatron, Nicolas Sanlaville, Damien Vitobello, Antonio Faivre, Laurence Thauvin-Robinet, Christel Laumonnier, Frederic Raynaud, Martine Alders, Mariëlle Mannens, Marcel Henneman, Peter Hennekam, Raoul C Velasco, Guillaume Francastel, Claire Ulveling, Damien Ciolfi, Andrea Pizzi, Simone Tartaglia, Marco Heide, Solveig Héron, Delphine Mignot, Cyril Keren, Boris Whalen, Sandra Afenjar, Alexandra Bienvenu, Thierry Campeau, Philippe M Rousseau, Justine Levy, Michael A Brick, Lauren Kozenko, Mariya Balci, Tugce B Siu, Victoria Mok Stuart, Alan Kadour, Mike Masters, Jennifer Takano, Kyoko Kleefstra, Tjitske de Leeuw, Nicole Field, Michael Shaw, Marie Gecz, Jozef Ainsworth, Peter J Lin, Hanxin Rodenhiser, David I Friez, Michael J Tedder, Matt Lee, Jennifer A DuPont, Barbara R Stevenson, Roger E Skinner, Steven A Schwartz, Charles E Genevieve, David Sadikovic, Bekim Producer: 20200505 In: American journal of human genetics vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	648.	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. [electronic resource] by Snijders Blok, Lot Rousseau, Justine Twist, Joanna Ehresmann, Sophie Takaku, Motoki Venselaar, Hanka Rodan, Lance H Nowak, Catherine B Douglas, Jessica Swoboda, Kathryn J Steeves, Marcie A Sahai, Inderneel Stumpel, Connie T R M Stegmann, Alexander P A Wheeler, Patricia Willing, Marcia Fiala, Elise Kochhar, Aaina Gibson, William T Cohen, Ana S A Agbahovbe, Ruky Innes, A Micheil Au, P Y Billie Rankin, Julia Anderson, Ilse J Skinner, Steven A Louie, Raymond J Warren, Hannah E Afenjar, Alexandra Keren, Boris Nava, Caroline Buratti, Julien Isapof, Arnaud Rodriguez, Diana Lewandowski, Raymond Propst, Jennifer van Essen, Ton Choi, Murim Lee, Sangmoon Chae, Jong H Price, Susan Schnur, Rhonda E Douglas, Ganka Wentzensen, Ingrid M Zweier, Christiane Reis, André Bialer, Martin G Moore, Christine Koopmans, Marije Brilstra, Eva H Monroe, Glen R van Gassen, Koen L I van Binsbergen, Ellen Newbury-Ecob, Ruth Bownass, Lucy Bader, Ingrid Mayr, Johannes A Wortmann, Saskia B Jakielski, Kathy J Strand, Edythe A Kloth, Katja Bierhals, Tatjana Roberts, John D Petrovich, Robert M Machida, Shinichi Kurumizaka, Hitoshi Lelieveld, Stefan Pfundt, Rolph Jansen, Sandra Deriziotis, Pelagia Faivre, Laurence Thevenon, Julien Assoum, Mirna Shriberg, Lawrence Kleefstra, Tjitske Brunner, Han G Wade, Paul A Fisher, Simon E Campeau, Philippe M Producer: 20190701 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	649.	Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. [electronic resource] by Mignot, Cyril McMahon, Aoife C Bar, Claire Campeau, Philippe M Davidson, Claire Buratti, Julien Nava, Caroline Jacquemont, Marie-Line Tallot, Marilyn Milh, Mathieu Edery, Patrick Marzin, Pauline Barcia, Giulia Barnerias, Christine Besmond, Claude Bienvenu, Thierry Bruel, Ange-Line Brunga, Ledia Ceulemans, Berten Coubes, Christine Cristancho, Ana G Cunningham, Fiona Dehouck, Marie-Bertille Donner, Elizabeth J Duban-Bedu, Bénédicte Dubourg, Christèle Gardella, Elena Gauthier, Julie Geneviève, David Gobin-Limballe, Stéphanie Goldberg, Ethan M Hagebeuk, Eveline Hamdan, Fadi F Hančárová, Miroslava Hubert, Laurence Ioos, Christine Ichikawa, Shoji Janssens, Sandra Journel, Hubert Kaminska, Anna Keren, Boris Koopmans, Marije Lacoste, Caroline Laššuthová, Petra Lederer, Damien Lehalle, Daphné Marjanovic, Dragan Métreau, Julia Michaud, Jacques L Miller, Kathryn Minassian, Berge A Morales, Joannella Moutard, Marie-Laure Munnich, Arnold Ortiz-Gonzalez, Xilma R Pinard, Jean-Marc Prchalová, Darina Putoux, Audrey Quelin, Chloé Rosen, Alyssa R Roume, Joelle Rossignol, Elsa Simon, Marleen E H Smol, Thomas Shur, Natasha Shelihan, Ivan Štěrbová, Katalin Vyhnálková, Emílie Vilain, Catheline Soblet, Julie Smits, Guillaume Yang, Samuel P van der Smagt, Jasper J van Hasselt, Peter M van Kempen, Marjan Weckhuysen, Sarah Helbig, Ingo Villard, Laurent Héron, Delphine Koeleman, Bobby Møller, Rikke S Lesca, Gaetan Helbig, Katherine L Nabbout, Rima Verbeek, Nienke E Depienne, Christel Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Aug 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	650.	IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. [electronic resource] by Mignot, Cyril McMahon, Aoife C Bar, Claire Campeau, Philippe M Davidson, Claire Buratti, Julien Nava, Caroline Jacquemont, Marie-Line Tallot, Marilyn Milh, Mathieu Edery, Patrick Marzin, Pauline Barcia, Giulia Barnerias, Christine Besmond, Claude Bienvenu, Thierry Bruel, Ange-Line Brunga, Ledia Ceulemans, Berten Coubes, Christine Cristancho, Ana G Cunningham, Fiona Dehouck, Marie-Bertille Donner, Elizabeth J Duban-Bedu, Bénédicte Dubourg, Christèle Gardella, Elena Gauthier, Julie Geneviève, David Gobin-Limballe, Stéphanie Goldberg, Ethan M Hagebeuk, Eveline Hamdan, Fadi F Hančárová, Miroslava Hubert, Laurence Ioos, Christine Ichikawa, Shoji Janssens, Sandra Journel, Hubert Kaminska, Anna Keren, Boris Koopmans, Marije Lacoste, Caroline Laššuthová, Petra Lederer, Damien Lehalle, Daphné Marjanovic, Dragan Métreau, Julia Michaud, Jacques L Miller, Kathryn Minassian, Berge A Morales, Joannella Moutard, Marie-Laure Munnich, Arnold Ortiz-Gonzalez, Xilma R Pinard, Jean-Marc Prchalová, Darina Putoux, Audrey Quelin, Chloé Rosen, Alyssa R Roume, Joelle Rossignol, Elsa Simon, Marleen E H Smol, Thomas Shur, Natasha Shelihan, Ivan Štěrbová, Katalin Vyhnálková, Emílie Vilain, Catheline Soblet, Julie Smits, Guillaume Yang, Samuel P van der Smagt, Jasper J van Hasselt, Peter M van Kempen, Marjan Weckhuysen, Sarah Helbig, Ingo Villard, Laurent Héron, Delphine Koeleman, Bobby Møller, Rikke S Lesca, Gaetan Helbig, Katherine L Nabbout, Rima Verbeek, Nienke E Depienne, Christel Producer: 20190618 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	651.	Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. [electronic resource] by Snijders Blok, Lot Rousseau, Justine Twist, Joanna Ehresmann, Sophie Takaku, Motoki Venselaar, Hanka Rodan, Lance H Nowak, Catherine B Douglas, Jessica Swoboda, Kathryn J Steeves, Marcie A Sahai, Inderneel Stumpel, Connie T R M Stegmann, Alexander P A Wheeler, Patricia Willing, Marcia Fiala, Elise Kochhar, Aaina Gibson, William T Cohen, Ana S A Agbahovbe, Ruky Innes, A Micheil Au, P Y Billie Rankin, Julia Anderson, Ilse J Skinner, Steven A Louie, Raymond J Warren, Hannah E Afenjar, Alexandra Keren, Boris Nava, Caroline Buratti, Julien Isapof, Arnaud Rodriguez, Diana Lewandowski, Raymond Propst, Jennifer van Essen, Ton Choi, Murim Lee, Sangmoon Chae, Jong H Price, Susan Schnur, Rhonda E Douglas, Ganka Wentzensen, Ingrid M Zweier, Christiane Reis, André Bialer, Martin G Moore, Christine Koopmans, Marije Brilstra, Eva H Monroe, Glen R van Gassen, Koen L I van Binsbergen, Ellen Newbury-Ecob, Ruth Bownass, Lucy Bader, Ingrid Mayr, Johannes A Wortmann, Saskia B Jakielski, Kathy J Strand, Edythe A Kloth, Katja Bierhals, Tatjana Roberts, John D Petrovich, Robert M Machida, Shinichi Kurumizaka, Hitoshi Lelieveld, Stefan Pfundt, Rolph Jansen, Sandra Deriziotis, Pelagia Faivre, Laurence Thevenon, Julien Assoum, Mirna Shriberg, Lawrence Kleefstra, Tjitske Brunner, Han G Wade, Paul A Fisher, Simon E Campeau, Philippe M Publication details: Nature communications May 2019 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	652.	Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. [electronic resource] by Blok, Lot Snijders Rousseau, Justine Twist, Joanna Ehresmann, Sophie Takaku, Motoki Venselaar, Hanka Rodan, Lance H Nowak, Catherine B Douglas, Jessica Swoboda, Kathryn J Steeves, Marcie A Sahai, Inderneel Stumpel, Connie T R M Stegmann, Alexander P A Wheeler, Patricia Willing, Marcia Fiala, Elise Kochhar, Aaina Gibson, William T Cohen, Ana S A Agbahovbe, Ruky Innes, A Micheil Au, P Y Billie Rankin, Julia Anderson, Ilse J Skinner, Steven A Louie, Raymond J Warren, Hannah E Afenjar, Alexandra Keren, Boris Nava, Caroline Buratti, Julien Isapof, Arnaud Rodriguez, Diana Lewandowski, Raymond Propst, Jennifer van Essen, Ton Choi, Murim Lee, Sangmoon Chae, Jong H Price, Susan Schnur, Rhonda E Douglas, Ganka Wentzensen, Ingrid M Zweier, Christiane Reis, André Bialer, Martin G Moore, Christine Koopmans, Marije Brilstra, Eva H Monroe, Glen R van Gassen, Koen L I van Binsbergen, Ellen Newbury-Ecob, Ruth Bownass, Lucy Bader, Ingrid Mayr, Johannes A Wortmann, Saskia B Jakielski, Kathy J Strand, Edythe A Kloth, Katja Bierhals, Tatjana Roberts, John D Petrovich, Robert M Machida, Shinichi Kurumizaka, Hitoshi Lelieveld, Stefan Pfundt, Rolph Jansen, Sandra Deriziotis, Pelagia Faivre, Laurence Thevenon, Julien Assoum, Mirna Shriberg, Lawrence Kleefstra, Tjitske Brunner, Han G Wade, Paul A Fisher, Simon E Campeau, Philippe M Publication details: Nature communications 02 2019 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	653.	High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. [electronic resource] by Hamdan, Fadi F Myers, Candace T Cossette, Patrick Lemay, Philippe Spiegelman, Dan Laporte, Alexandre Dionne Nassif, Christina Diallo, Ousmane Monlong, Jean Cadieux-Dion, Maxime Dobrzeniecka, Sylvia Meloche, Caroline Retterer, Kyle Cho, Megan T Rosenfeld, Jill A Bi, Weimin Massicotte, Christine Miguet, Marguerite Brunga, Ledia Regan, Brigid M Mo, Kelly Tam, Cory Schneider, Amy Hollingsworth, Georgie FitzPatrick, David R Donaldson, Alan Canham, Natalie Blair, Edward Kerr, Bronwyn Fry, Andrew E Thomas, Rhys H Shelagh, Joss Hurst, Jane A Brittain, Helen Blyth, Moira Lebel, Robert Roger Gerkes, Erica H Davis-Keppen, Laura Stein, Quinn Chung, Wendy K Dorison, Sara J Benke, Paul J Fassi, Emily Corsten-Janssen, Nicole Kamsteeg, Erik-Jan Mau-Them, Frederic T Bruel, Ange-Line Verloes, Alain Õunap, Katrin Wojcik, Monica H Albert, Dara V F Venkateswaran, Sunita Ware, Tyson Jones, Dean Liu, Yu-Chi Mohammad, Shekeeb S Bizargity, Peyman Bacino, Carlos A Leuzzi, Vincenzo Martinelli, Simone Dallapiccola, Bruno Tartaglia, Marco Blumkin, Lubov Wierenga, Klaas J Purcarin, Gabriela O'Byrne, James J Stockler, Sylvia Lehman, Anna Keren, Boris Nougues, Marie-Christine Mignot, Cyril Auvin, Stéphane Nava, Caroline Hiatt, Susan M Bebin, Martina Shao, Yunru Scaglia, Fernando Lalani, Seema R Frye, Richard E Jarjour, Imad T Jacques, Stéphanie Boucher, Renee-Myriam Riou, Emilie Srour, Myriam Carmant, Lionel Lortie, Anne Major, Philippe Diadori, Paola Dubeau, François D'Anjou, Guy Bourque, Guillaume Berkovic, Samuel F Sadleir, Lynette G Campeau, Philippe M Kibar, Zoha Lafrenière, Ronald G Girard, Simon L Mercimek-Mahmutoglu, Saadet Boelman, Cyrus Rouleau, Guy A Scheffer, Ingrid E Mefford, Heather C Andrade, Danielle M Rossignol, Elsa Minassian, Berge A Michaud, Jacques L Producer: 20171113 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	654.	The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. [electronic resource] by van der Sluijs, Pleuntje J Jansen, Sandra Vergano, Samantha A Adachi-Fukuda, Miho Alanay, Yasemin AlKindy, Adila Baban, Anwar Bayat, Allan Beck-Wödl, Stefanie Berry, Katherine Bijlsma, Emilia K Bok, Levinus A Brouwer, Alwin F J van der Burgt, Ineke Campeau, Philippe M Canham, Natalie Chrzanowska, Krystyna Chu, Yoyo W Y Chung, Brain H Y Dahan, Karin De Rademaeker, Marjan Destree, Anne Dudding-Byth, Tracy Earl, Rachel Elcioglu, Nursel Elias, Ellen R Fagerberg, Christina Gardham, Alice Gener, Blanca Gerkes, Erica H Grasshoff, Ute van Haeringen, Arie Heitink, Karin R Herkert, Johanna C den Hollander, Nicolette S Horn, Denise Hunt, David Kant, Sarina G Kato, Mitsuhiro Kayserili, Hülya Kersseboom, Rogier Kilic, Esra Krajewska-Walasek, Malgorzata Lammers, Kylin Laulund, Lone W Lederer, Damien Lees, Melissa López-González, Vanesa Maas, Saskia Mancini, Grazia M S Marcelis, Carlo Martinez, Francisco Maystadt, Isabelle McGuire, Marianne McKee, Shane Mehta, Sarju Metcalfe, Kay Milunsky, Jeff Mizuno, Seiji Moeschler, John B Netzer, Christian Ockeloen, Charlotte W Oehl-Jaschkowitz, Barbara Okamoto, Nobuhiko Olminkhof, Sharon N M Orellana, Carmen Pasquier, Laurent Pottinger, Caroline Riehmer, Vera Robertson, Stephen P Roifman, Maian Rooryck, Caroline Ropers, Fabienne G Rosello, Monica Ruivenkamp, Claudia A L Sagiroglu, Mahmut S Sallevelt, Suzanne C E H Sanchis Calvo, Amparo Simsek-Kiper, Pelin O Soares, Gabriela Solaeche, Lucia Sonmez, Fatma Mujgan Splitt, Miranda Steenbeek, Duco Stegmann, Alexander P A Stumpel, Constance T R M Tanabe, Saori Uctepe, Eyyup Utine, G Eda Veenstra-Knol, Hermine E Venkateswaran, Sunita Vilain, Catheline Vincent-Delorme, Catherine Vulto-van Silfhout, Anneke T Wheeler, Patricia Wilson, Golder N Wilson, Louise C Wollnik, Bernd Kosho, Tomoki Wieczorek, Dagmar Eichler, Evan Pfundt, Rolph de Vries, Bert B A Clayton-Smith, Jill Santen, Gijs W E Producer: 20200213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	655.	Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. [electronic resource] by van der Sluijs, Pleuntje J Jansen, Sandra Vergano, Samantha A Adachi-Fukuda, Miho Alanay, Yasemin AlKindy, Adila Baban, Anwar Bayat, Allan Beck-Wödl, Stefanie Berry, Katherine Bijlsma, Emilia K Bok, Levinus A Brouwer, Alwin F J van der Burgt, Ineke Campeau, Philippe M Canham, Natalie Chrzanowska, Krystyna Chu, Yoyo W Y Chung, Brain H Y Dahan, Karin De Rademaeker, Marjan Destree, Anne Dudding-Byth, Tracy Earl, Rachel Elcioglu, Nursel Elias, Ellen R Fagerberg, Christina Gardham, Alice Gener, Blanca Gerkes, Erica H Grasshoff, Ute van Haeringen, Arie Heitink, Karin R Herkert, Johanna C den Hollander, Nicolette S Horn, Denise Hunt, David Kant, Sarina G Kato, Mitsuhiro Kayserili, Hülya Kersseboom, Rogier Kilic, Esra Krajewska-Walasek, Malgorzata Lammers, Kylin Laulund, Lone W Lederer, Damien Lees, Melissa López-González, Vanesa Maas, Saskia Mancini, Grazia M S Marcelis, Carlo Martinez, Francisco Maystadt, Isabelle McGuire, Marianne McKee, Shane Mehta, Sarju Metcalfe, Kay Milunsky, Jeff Mizuno, Seiji Moeschler, John B Netzer, Christian Ockeloen, Charlotte W Oehl-Jaschkowitz, Barbara Okamoto, Nobuhiko Olminkhof, Sharon N M Orellana, Carmen Pasquier, Laurent Pottinger, Caroline Riehmer, Vera Robertson, Stephen P Roifman, Maian Rooryck, Caroline Ropers, Fabienne G Rosello, Monica Ruivenkamp, Claudia A L Sagiroglu, Mahmut S Sallevelt, Suzanne C E H Calvo, Amparo Sanchis Simsek-Kiper, Pelin O Soares, Gabriela Solaeche, Lucia Sonmez, Fatma Mujgan Splitt, Miranda Steenbeek, Duco Stegmann, Alexander P A Stumpel, Constance T R M Tanabe, Saori Uctepe, Eyyup Utine, G Eda Veenstra-Knol, Hermine E Venkateswaran, Sunita Vilain, Catheline Vincent-Delorme, Catherine Vulto-van Silfhout, Anneke T Wheeler, Patricia Wilson, Golder N Wilson, Louise C Wollnik, Bernd Kosho, Tomoki Wieczorek, Dagmar Eichler, Evan Pfundt, Rolph de Vries, Bert B A Clayton-Smith, Jill Santen, Gijs W E Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Sep 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	656.	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. [electronic resource] by Cogné, Benjamin Ehresmann, Sophie Beauregard-Lacroix, Eliane Rousseau, Justine Besnard, Thomas Garcia, Thomas Petrovski, Slavé Avni, Shiri McWalter, Kirsty Blackburn, Patrick R Sanders, Stephan J Uguen, Kévin Harris, Jacqueline Cohen, Julie S Blyth, Moira Lehman, Anna Berg, Jonathan Li, Mindy H Kini, Usha Joss, Shelagh von der Lippe, Charlotte Gordon, Christopher T Humberson, Jennifer B Robak, Laurie Scott, Daryl A Sutton, Vernon R Skraban, Cara M Johnston, Jennifer J Poduri, Annapurna Nordenskjöld, Magnus Shashi, Vandana Gerkes, Erica H Bongers, Ernie M H F Gilissen, Christian Zarate, Yuri A Kvarnung, Malin Lally, Kevin P Kulch, Peggy A Daniels, Brina Hernandez-Garcia, Andres Stong, Nicholas McGaughran, Julie Retterer, Kyle Tveten, Kristian Sullivan, Jennifer Geisheker, Madeleine R Stray-Pedersen, Asbjorg Tarpinian, Jennifer M Klee, Eric W Sapp, Julie C Zyskind, Jacob Holla, Øystein L Bedoukian, Emma Filippini, Francesca Guimier, Anne Picard, Arnaud Busk, Øyvind L Punetha, Jaya Pfundt, Rolph Lindstrand, Anna Nordgren, Ann Kalb, Fayth Desai, Megha Ebanks, Ashley Harmon Jhangiani, Shalini N Dewan, Tammie Coban Akdemir, Zeynep H Telegrafi, Aida Zackai, Elaine H Begtrup, Amber Song, Xiaofei Toutain, Annick Wentzensen, Ingrid M Odent, Sylvie Bonneau, Dominique Latypova, Xénia Deb, Wallid Redon, Sylvia Bilan, Frédéric Legendre, Marine Troyer, Caitlin Whitlock, Kerri Caluseriu, Oana Murphree, Marine I Pichurin, Pavel N Agre, Katherine Gavrilova, Ralitza Rinne, Tuula Park, Meredith Shain, Catherine Heinzen, Erin L Xiao, Rui Amiel, Jeanne Lyonnet, Stanislas Isidor, Bertrand Biesecker, Leslie G Lowenstein, Dan Posey, Jennifer E Denommé-Pichon, Anne-Sophie Férec, Claude Yang, Xiang-Jiao Rosenfeld, Jill A Gilbert-Dussardier, Brigitte Audebert-Bellanger, Séverine Redon, Richard Stessman, Holly A F Nellaker, Christoffer Yang, Yaping Lupski, James R Goldstein, David B Eichler, Evan E Bolduc, Francois Bézieau, Stéphane Küry, Sébastien Campeau, Philippe M Producer: 20191218 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. [electronic resource] by

van der Sluijs, Pleuntje J
Jansen, Sandra
Vergano, Samantha A
Adachi-Fukuda, Miho
Alanay, Yasemin
AlKindy, Adila
Baban, Anwar
Bayat, Allan
Beck-Wödl, Stefanie
Berry, Katherine
Bijlsma, Emilia K
Bok, Levinus A
Brouwer, Alwin F J
van der Burgt, Ineke
Campeau, Philippe M
Canham, Natalie
Chrzanowska, Krystyna
Chu, Yoyo W Y
Chung, Brain H Y
Dahan, Karin
De Rademaeker, Marjan
Destree, Anne
Dudding-Byth, Tracy
Earl, Rachel
Elcioglu, Nursel
Elias, Ellen R
Fagerberg, Christina
Gardham, Alice
Gener, Blanca
Gerkes, Erica H
Grasshoff, Ute
van Haeringen, Arie
Heitink, Karin R
Herkert, Johanna C
den Hollander, Nicolette S
Horn, Denise
Hunt, David
Kant, Sarina G
Kato, Mitsuhiro
Kayserili, Hülya
Kersseboom, Rogier
Kilic, Esra
Krajewska-Walasek, Malgorzata
Lammers, Kylin
Laulund, Lone W
Lederer, Damien
Lees, Melissa
López-González, Vanesa
Maas, Saskia
Mancini, Grazia M S
Marcelis, Carlo
Martinez, Francisco
Maystadt, Isabelle
McGuire, Marianne
McKee, Shane
Mehta, Sarju
Metcalfe, Kay
Milunsky, Jeff
Mizuno, Seiji
Moeschler, John B
Netzer, Christian
Ockeloen, Charlotte W
Oehl-Jaschkowitz, Barbara
Okamoto, Nobuhiko
Olminkhof, Sharon N M
Orellana, Carmen
Pasquier, Laurent
Pottinger, Caroline
Riehmer, Vera
Robertson, Stephen P
Roifman, Maian
Rooryck, Caroline
Ropers, Fabienne G
Rosello, Monica
Ruivenkamp, Claudia A L
Sagiroglu, Mahmut S
Sallevelt, Suzanne C E H
Calvo, Amparo Sanchis
Simsek-Kiper, Pelin O
Soares, Gabriela
Solaeche, Lucia
Sonmez, Fatma Mujgan
Splitt, Miranda
Steenbeek, Duco
Stegmann, Alexander P A
Stumpel, Constance T R M
Tanabe, Saori
Uctepe, Eyyup
Utine, G Eda
Veenstra-Knol, Hermine E
Venkateswaran, Sunita
Vilain, Catheline
Vincent-Delorme, Catherine
Vulto-van Silfhout, Anneke T
Wheeler, Patricia
Wilson, Golder N
Wilson, Louise C
Wollnik, Bernd
Kosho, Tomoki
Wieczorek, Dagmar
Eichler, Evan
Pfundt, Rolph
de Vries, Bert B A
Clayton-Smith, Jill
Santen, Gijs W E

Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Sep 2019

In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21

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