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	621.	Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. [electronic resource] by Niceta, Marcello Stellacci, Emilia Gripp, Karen W Zampino, Giuseppe Kousi, Maria Anselmi, Massimiliano Traversa, Alice Ciolfi, Andrea Stabley, Deborah Bruselles, Alessandro Caputo, Viviana Cecchetti, Serena Prudente, Sabrina Fiorenza, Maria T Boitani, Carla Philip, Nicole Niyazov, Dmitriy Leoni, Chiara Nakane, Takaya Keppler-Noreuil, Kim Braddock, Stephen R Gillessen-Kaesbach, Gabriele Palleschi, Antonio Campeau, Philippe M Lee, Brendan H L Pouponnot, Celio Stella, Lorenzo Bocchinfuso, Gianfranco Katsanis, Nicholas Sol-Church, Katia Tartaglia, Marco Producer: 20150729 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	622.	Inhibitors of retrograde trafficking active against ricin and Shiga toxins also protect cells from several viruses, Leishmania and Chlamydiales. [electronic resource] by Gupta, Neetu Noël, Romain Goudet, Amélie Hinsinger, Karen Michau, Aurélien Pons, Valérie Abdelkafi, Hajer Secher, Thomas Shima, Ayaka Shtanko, Olena Sakurai, Yasuteru Cojean, Sandrine Pomel, Sébastien Liévin-Le Moal, Vanessa Leignel, Véronique Herweg, Jo-Ana Fischer, Annette Johannes, Ludger Harrison, Kate Beard, Philippa M Clayette, Pascal Le Grand, Roger Rayner, Jonathan O Rudel, Thomas Vacus, Joël Loiseau, Philippe M Davey, Robert A Oswald, Eric Cintrat, Jean-Christophe Barbier, Julien Gillet, Daniel Producer: 20170328 In: Chemico-biological interactions vol. 267 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	623.	ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. [electronic resource] by Stitziel, Nathan O Khera, Amit V Wang, Xiao Bierhals, Andrew J Vourakis, A Christina Sperry, Alexandra E Natarajan, Pradeep Klarin, Derek Emdin, Connor A Zekavat, Seyedeh M Nomura, Akihiro Erdmann, Jeanette Schunkert, Heribert Samani, Nilesh J Kraus, William E Shah, Svati H Yu, Bing Boerwinkle, Eric Rader, Daniel J Gupta, Namrata Frossard, Philippe M Rasheed, Asif Danesh, John Lander, Eric S Gabriel, Stacey Saleheen, Danish Musunuru, Kiran Kathiresan, Sekar Producer: 20170717 In: Journal of the American College of Cardiology vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	624.	Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". [electronic resource] by Lee, Chae Syng Fu, He Baratang, Nissan Rousseau, Justine Kumra, Heena Sutton, V Reid Niceta, Marcello Ciolfi, Andrea Yamamoto, Guilherme Bertola, Débora Marcelis, Carlo L Lugtenberg, Dorien Bartuli, Andrea Kim, Choel Hoover-Fong, Julie Sobreira, Nara Pauli, Richard Bacino, Carlos Krakow, Deborah Parboosingh, Jillian Yap, Patrick Kariminejad, Ariana McDonald, Marie T Aracena, Mariana I Lausch, Ekkehart Unger, Sheila Superti-Furga, Andrea Lu, James T Cohn, Dan H Tartaglia, Marco Lee, Brendan H Reinhardt, Dieter P Campeau, Philippe M 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)
	625.	BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. [electronic resource] by Aref-Eshghi, Erfan Bend, Eric G Hood, Rebecca L Schenkel, Laila C Carere, Deanna Alexis Chakrabarti, Rana Nagamani, Sandesh C S Cheung, Sau Wai Campeau, Philippe M Prasad, Chitra Siu, Victoria Mok Brady, Lauren Tarnopolsky, Mark A Callen, David J Innes, A Micheil White, Susan M Meschino, Wendy S Shuen, Andrew Y Paré, Guillaume Bulman, Dennis E Ainsworth, Peter J Lin, Hanxin Rodenhiser, David I Hennekam, Raoul C Boycott, Kym M Schwartz, Charles E Sadikovic, Bekim Producer: 20190102 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	626.	Myhre and LAPS syndromes: clinical and molecular review of 32 patients. [electronic resource] by Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul Heron, Delphine Jacquemont, Sébastien Kannu, Peter Lin, Angela E Manouvrier-Hanu, Sylvie Mansour, Sahar Marlin, Sandrine McGowan, Ruth Murphy, Helen Raas-Rothschild, Annick Rio, Marlène Simon, Marleen Stolte-Dijkstra, Irene Stone, James R Sznajer, Yves Tolmie, John Touraine, Renaud van den Ende, Jenneke Van der Aa, Nathalie van Essen, Ton Verloes, Alain Munnich, Arnold Cormier-Daire, Valérie Producer: 20150625 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	627.	Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. [electronic resource] by Yan, Kezhi Rousseau, Justine Machol, Keren Cross, Laura A Agre, Katherine E Gibson, Cynthia Forster Goverde, Anne Engleman, Kendra L Verdin, Hannah De Baere, Elfride Potocki, Lorraine Zhou, Dihong Cadieux-Dion, Maxime Bellus, Gary A Wagner, Monisa D Hale, Rebecca J Esber, Natacha Riley, Alan F Solomon, Benjamin D Cho, Megan T McWalter, Kirsty Eyal, Roy Hainlen, Meagan K Mendelsohn, Bryce A Porter, Hillary M Lanpher, Brendan C Lewis, Andrea M Savatt, Juliann Thiffault, Isabelle Callewaert, Bert Campeau, Philippe M Yang, Xiang-Jiao Producer: 20200923 In: Science advances vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	628.	Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. [electronic resource] by Nguyen, Thi Tuyet Mai Murakami, Yoshiko Sheridan, Eamonn Ehresmann, Sophie Rousseau, Justine St-Denis, Anik Chai, Guoliang Ajeawung, Norbert F Fairbrother, Laura Reimschisel, Tyler Bateman, Alexandra Berry-Kravis, Elizabeth Xia, Fan Tardif, Jessica Parry, David A Logan, Clare V Diggle, Christine Bennett, Christopher P Hattingh, Louise Rosenfeld, Jill A Perry, Michael Scott Parker, Michael J Le Deist, Françoise Zaki, Maha S Ignatius, Erika Isohanni, Pirjo Lönnqvist, Tuula Carroll, Christopher J Johnson, Colin A Gleeson, Joseph G Kinoshita, Taroh Campeau, Philippe M 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)
	629.	Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. [electronic resource] by Feichtinger, René G Mucha, Bettina E Hengel, Holger Orfi, Zakaria Makowski, Christine Dort, Junio D'Anjou, Guy Nguyen, Thi Tuyet Mai Buchert, Rebecca Juenger, Hendrik Freisinger, Peter Baumeister, Sarah Schoser, Benedikt Ahting, Uwe Keimer, Reinhard Nguyen, Cam-Tu Emilie Fabre, Paul Gauthier, Julie Miguet, Marguerite Lopes, Fátima AlHakeem, Afnan AlHashem, Amal Tabarki, Brahim Kandaswamy, Krishna Kumar Bauer, Peter Steinbacher, Peter Prokisch, Holger Sturm, Marc Strom, Tim M Ellezam, Benjamin Mayr, Johannes A Schöls, Ludger Michaud, Jacques L Campeau, Philippe M Haack, Tobias B Dumont, Nicolas A Producer: 20200427 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)
	630.	The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. [electronic resource] by Boycott, Kym M Campeau, Philippe M Howley, Heather E Pavlidis, Paul Rogic, Sanja Oriel, Christine Berman, Jason N Hamilton, Robert M Hicks, Geoffrey G Lipshitz, Howard D Masson, Jean-Yves Shoubridge, Eric A Junker, Anne Leroux, Michel R McMaster, Christopher R Michaud, Jaques L Turvey, Stuart E Dyment, David Innes, A Micheil van Karnebeek, Clara D Lehman, Anna Cohn, Ronald D MacDonald, Ian M Rachubinski, Richard A Frosk, Patrick Vandersteen, Anthony Wozniak, Richard W Pena, Izabella A Wen, Xiao-Yan Lacaze-Masmonteil, Thierry Rankin, Catharine Hieter, Philip Producer: 20200417 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)
	631.	Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. [electronic resource] by Nguyen, Thi Tuyet Mai Murakami, Yoshiko Mobilio, Sabrina Niceta, Marcello Zampino, Giuseppe Philippe, Christophe Moutton, Sébastien Zaki, Maha S James, Kiely N Musaev, Damir Mu, Weiyi Baranano, Kristin Nance, Jessica R Rosenfeld, Jill A Braverman, Nancy Ciolfi, Andrea Millan, Francisca Person, Richard E Bruel, Ange-Line Thauvin-Robinet, Christel Ververi, Athina DeVile, Catherine Male, Alison Efthymiou, Stephanie Maroofian, Reza Houlden, Henry Maqbool, Shazia Rahman, Fatima Baratang, Nissan V Rousseau, Justine St-Denis, Anik Elrick, Matthew J Anselm, Irina Rodan, Lance H Tartaglia, Marco Gleeson, Joseph Kinoshita, Taroh Campeau, Philippe M Producer: 20200511 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)
	632.	Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. [electronic resource] by Yan, Kezhi Rousseau, Justine Littlejohn, Rebecca Okashah Kiss, Courtney Lehman, Anna Rosenfeld, Jill A Stumpel, Constance T R Stegmann, Alexander P A Robak, Laurie Scaglia, Fernando Nguyen, Thi Tuyet Mai Fu, He Ajeawung, Norbert F Camurri, Maria Vittoria Li, Lin Gardham, Alice Panis, Bianca Almannai, Mohammed Sacoto, Maria J Guillen Baskin, Berivan Ruivenkamp, Claudia Xia, Fan Bi, Weimin Cho, Megan T Potjer, Thomas P Santen, Gijs W E Parker, Michael J Canham, Natalie McKinnon, Margaret Potocki, Lorraine MacKenzie, Jennifer J Roeder, Elizabeth R Campeau, Philippe M Yang, Xiang-Jiao Producer: 20170524 In: American journal of human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	633.	Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. [electronic resource] by Li, Lin Ghorbani, Mohammad Weisz-Hubshman, Monika Rousseau, Justine Thiffault, Isabelle Schnur, Rhonda E Breen, Catherine Oegema, Renske Weiss, Marjan Mm Waisfisz, Quinten Welner, Sara Kingston, Helen Hills, Jordan A Boon, Elles Mj Basel-Salmon, Lina Konen, Osnat Goldberg-Stern, Hadassa Bazak, Lily Tzur, Shay Jin, Jianliang Bi, Xiuli Bruccoleri, Michael McWalter, Kirsty Cho, Megan T Scarano, Maria Schaefer, G Bradley Brooks, Susan S Hughes, Susan Starling van Gassen, K L I van Hagen, Johanna M Pandita, Tej K Agrawal, Pankaj B Campeau, Philippe M Yang, Xiang-Jiao Producer: 20201103 In: The Journal of clinical investigation vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	634.	Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. [electronic resource] by van Karnebeek, Clara D M Ramos, Rúben J Wen, Xiao-Yan Tarailo-Graovac, Maja Gleeson, Joseph G Skrypnyk, Cristina Brand-Arzamendi, Koroboshka Karbassi, Farhad Issa, Mahmoud Y van der Lee, Robin Drögemöller, Britt I Koster, Janet Rousseau, Justine Campeau, Philippe M Wang, Youdong Cao, Feng Li, Meng Ruiter, Jos Ciapaite, Jolita Kluijtmans, Leo A J Willemsen, Michel A A P Jans, Judith J Ross, Colin J Wintjes, Liesbeth T Rodenburg, Richard J Huigen, Marleen C D G Jia, Zhengping Waterham, Hans R Wasserman, Wyeth W Wanders, Ronald J A Verhoeven-Duif, Nanda M Zaki, Maha S Wevers, Ron A Producer: 20200402 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	635.	Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. [electronic resource] by Murakami, Yoshiko Nguyen, Thi Tuyet Mai Baratang, Nissan Raju, Praveen K Knaus, Alexej Ellard, Sian Jones, Gabriela Lace, Baiba Rousseau, Justine Ajeawung, Norbert Fonya Kamei, Atsushi Minase, Gaku Akasaka, Manami Araya, Nami Koshimizu, Eriko van den Ende, Jenneke Erger, Florian Altmüller, Janine Krumina, Zita Strautmanis, Jurgis Inashkina, Inna Stavusis, Janis El-Gharbawy, Areeg Sebastian, Jessica Puri, Ratna Dua Kulshrestha, Samarth Verma, Ishwar C Maier, Esther M Haack, Tobias B Israni, Anil Baptista, Julia Gunning, Adam Rosenfeld, Jill A Liu, Pengfei Joosten, Marieke Rocha, María Eugenia Hashem, Mais O Aldhalaan, Hesham M Alkuraya, Fowzan S Miyatake, Satoko Matsumoto, Naomichi Krawitz, Peter M Rossignol, Elsa Kinoshita, Taroh Campeau, Philippe M Producer: 20200316 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	636.	The genetic basis of DOORS syndrome: an exome-sequencing study. [electronic resource] by Campeau, Philippe M Kasperaviciute, Dalia Lu, James T Burrage, Lindsay C Kim, Choel Hori, Mutsuki Powell, Berkley R Stewart, Fiona Félix, Têmis Maria van den Ende, Jenneke Wisniewska, Marzena Kayserili, Hülya Rump, Patrick Nampoothiri, Sheela Aftimos, Salim Mey, Antje Nair, Lal D V Begleiter, Michael L De Bie, Isabelle Meenakshi, Girish Murray, Mitzi L Repetto, Gabriela M Golabi, Mahin Blair, Edward Male, Alison Giuliano, Fabienne Kariminejad, Ariana Newman, William G Bhaskar, Sanjeev S Dickerson, Jonathan E Kerr, Bronwyn Banka, Siddharth Giltay, Jacques C Wieczorek, Dagmar Tostevin, Anna Wiszniewska, Joanna Cheung, Sau Wai Hennekam, Raoul C Gibbs, Richard A Lee, Brendan H Sisodiya, Sanjay M Producer: 20140211 In: The Lancet. Neurology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	637.	Consecutive fecal calprotectin measurements to predict relapse in patients with ulcerative colitis receiving infliximab maintenance therapy. [electronic resource] by De Vos, Martine Louis, Edouard J Jahnsen, Jørgen Vandervoort, Jo G P Noman, Maja Dewit, Olivier Dʼhaens, Geert R Franchimont, Denis Baert, Filip J Torp, Roald A Henriksen, Magne Potvin, Philippe M R Van Hootegem, Philippe P Hindryckx, Pieter M Moreels, Tom G Collard, Arnaud Karlsen, Lars Normann Kittang, Eirik Lambrecht, Guy Grimstad, Tore Koch, Jonas Lygren, Idar Coche, Jean-Claude R J Mana, Fazia Van Gossum, André Belaiche, Jacques Cool, Mike R Fontaine, Fernand Maisin, Jean-Marc G Muls, Vinciane Neuville, Bart Staessen, Dirk A J Van Assche, Gert A de Lange, Thomas Solberg, Inger Camilla Vander Cruyssen, Bert J K Vermeire, Severine A R A Producer: 20140313 In: Inflammatory bowel diseases vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	638.	Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. [electronic resource] by Machol, Keren Rousseau, Justine Ehresmann, Sophie Garcia, Thomas Nguyen, Thi Tuyet Mai Spillmann, Rebecca C Sullivan, Jennifer A Shashi, Vandana Jiang, Yong-Hui Stong, Nicholas Fiala, Elise Willing, Marcia Pfundt, Rolph Kleefstra, Tjitske Cho, Megan T McLaughlin, Heather Rosello Piera, Monica Orellana, Carmen Martínez, Francisco Caro-Llopis, Alfonso Monfort, Sandra Roscioli, Tony Nixon, Cheng Yee Buckley, Michael F Turner, Anne Jones, Wendy D van Hasselt, Peter M Hofstede, Floris C van Gassen, Koen L I Brooks, Alice S van Slegtenhorst, Marjon A Lachlan, Katherine Sebastian, Jessica Madan-Khetarpal, Suneeta Sonal, Desai Sakkubai, Naidu Thevenon, Julien Faivre, Laurence Maurel, Alice Petrovski, Slavé Krantz, Ian D Tarpinian, Jennifer M Rosenfeld, Jill A Lee, Brendan H Campeau, Philippe M Producer: 20191104 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)
	639.	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 Publication details: Annals of oncology : official journal of the European Society for Medical Oncology 08 2019 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)
	640.	Correction: 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 Vergano, Samantha A Schrier 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 Feldman, Hagit Baris Campeau, Philippe M Muenke, Maximilian Wade, Paul A Lachlan, Katherine Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Mar 2020 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)

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