Results of search for 'au:"FitzPatrick, David"' › مکتبة رقمیه للعلوم الطبيه catalog

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	281.	Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. [electronic resource] by Rainger, Joe Pehlivan, Davut Johansson, Stefan Bengani, Hemant Sanchez-Pulido, Luis Williamson, Kathleen A Ture, Mehmet Barker, Heather Rosendahl, Karen Spranger, Jürgen Horn, Denise Meynert, Alison Floyd, James A B Prescott, Trine Anderson, Carl A Rainger, Jacqueline K Karaca, Ender Gonzaga-Jauregui, Claudia Jhangiani, Shalini Muzny, Donna M Seawright, Anne Soares, Dinesh C Kharbanda, Mira Murday, Victoria Finch, Andrew Gibbs, Richard A van Heyningen, Veronica Taylor, Martin S Yakut, Tahsin Knappskog, Per M Hurles, Matthew E Ponting, Chris P Lupski, James R Houge, Gunnar FitzPatrick, David R Producer: 20140729 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	282.	A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. [electronic resource] by McEntagart, Meriel Williamson, Kathleen A Rainger, Jacqueline K Wheeler, Ann Seawright, Anne De Baere, Elfride Verdin, Hannah Bergendahl, L Therese Quigley, Alan Rainger, Joe Dixit, Abhijit Sarkar, Ajoy López Laso, Eduardo Sanchez-Carpintero, Rocio Barrio, Jesus Bitoun, Pierre Prescott, Trine Riise, Ruth McKee, Shane Cook, Jackie McKie, Lisa Ceulemans, Berten Meire, Françoise Temple, I Karen Prieur, Fabienne Williams, Jonathan Clouston, Penny Németh, Andrea H Banka, Siddharth Bengani, Hemant Handley, Mark Freyer, Elisabeth Ross, Allyson van Heyningen, Veronica Marsh, Joseph A Elmslie, Frances FitzPatrick, David R Producer: 20170515 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	283.	Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. [electronic resource] by Rainger, Joe van Beusekom, Ellen Ramsay, Jacqueline K McKie, Lisa Al-Gazali, Lihadh Pallotta, Rosanna Saponari, Anita Branney, Peter Fisher, Malcolm Morrison, Harris Bicknell, Louise Gautier, Philippe Perry, Paul Sokhi, Kishan Sexton, David Bardakjian, Tanya M Schneider, Adele S Elcioglu, Nursel Ozkinay, Ferda Koenig, Rainer Mégarbané, Andre Semerci, C Nur Khan, Ayesha Zafar, Saemah Hennekam, Raoul Sousa, Sérgio B Ramos, Lina Garavelli, Livia Furga, Andrea Superti Wischmeijer, Anita Jackson, Ian J Gillessen-Kaesbach, Gabriele Brunner, Han G Wieczorek, Dagmar van Bokhoven, Hans FitzPatrick, David R Publication details: PLoS genetics 12 2018 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	284.	Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. [electronic resource] by Akawi, Nadia McRae, Jeremy Ansari, Morad Balasubramanian, Meena Blyth, Moira Brady, Angela F Clayton, Stephen Cole, Trevor Deshpande, Charu Fitzgerald, Tomas W Foulds, Nicola Francis, Richard Gabriel, George Gerety, Sebastian S Goodship, Judith Hobson, Emma Jones, Wendy D Joss, Shelagh King, Daniel Klena, Nikolai Kumar, Ajith Lees, Melissa Lelliott, Chris Lord, Jenny McMullan, Dominic O'Regan, Mary Osio, Deborah Piombo, Virginia Prigmore, Elena Rajan, Diana Rosser, Elisabeth Sifrim, Alejandro Smith, Audrey Swaminathan, Ganesh J Turnpenny, Peter Whitworth, James Wright, Caroline F Firth, Helen V Barrett, Jeffrey C Lo, Cecilia W FitzPatrick, David R Hurles, Matthew E Producer: 20160307 In: Nature genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	285.	A viral strategy for targeting and manipulating interneurons across vertebrate species. [electronic resource] by Dimidschstein, Jordane Chen, Qian Tremblay, Robin Rogers, Stephanie L Saldi, Giuseppe-Antonio Guo, Lihua Xu, Qing Liu, Runpeng Lu, Congyi Chu, Jianhua Grimley, Joshua S Krostag, Anne-Rachel Kaykas, Ajamete Avery, Michael C Rashid, Mohammad S Baek, Myungin Jacob, Amanda L Smith, Gordon B Wilson, Daniel E Kosche, Georg Kruglikov, Illya Rusielewicz, Tomasz Kotak, Vibhakar C Mowery, Todd M Anderson, Stewart A Callaway, Edward M Dasen, Jeremy S Fitzpatrick, David Fossati, Valentina Long, Michael A Noggle, Scott Reynolds, John H Sanes, Dan H Rudy, Bernardo Feng, Guoping Fishell, Gord Producer: 20170905 In: Nature neuroscience vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	286.	Genome of Acanthamoeba castellanii highlights extensive lateral gene transfer and early evolution of tyrosine kinase signaling. [electronic resource] by Clarke, Michael Lohan, Amanda J Liu, Bernard Lagkouvardos, Ilias Roy, Scott Zafar, Nikhat Bertelli, Claire Schilde, Christina Kianianmomeni, Arash Bürglin, Thomas R Frech, Christian Turcotte, Bernard Kopec, Klaus O Synnott, John M Choo, Caleb Paponov, Ivan Finkler, Aliza Heng Tan, Chris Soon Hutchins, Andrew P Weinmeier, Thomas Rattei, Thomas Chu, Jeffery S C Gimenez, Gregory Irimia, Manuel Rigden, Daniel J Fitzpatrick, David A Lorenzo-Morales, Jacob Bateman, Alex Chiu, Cheng-Hsun Tang, Petrus Hegemann, Peter Fromm, Hillel Raoult, Didier Greub, Gilbert Miranda-Saavedra, Diego Chen, Nansheng Nash, Piers Ginger, Michael L Horn, Matthias Schaap, Pauline Caler, Lis Loftus, Brendan J Producer: 20150330 In: Genome biology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	287.	New insights into the classification and nomenclature of cortical GABAergic interneurons. [electronic resource] by DeFelipe, Javier López-Cruz, Pedro L Benavides-Piccione, Ruth Bielza, Concha Larrañaga, Pedro Anderson, Stewart Burkhalter, Andreas Cauli, Bruno Fairén, Alfonso Feldmeyer, Dirk Fishell, Gord Fitzpatrick, David Freund, Tamás F González-Burgos, Guillermo Hestrin, Shaul Hill, Sean Hof, Patrick R Huang, Josh Jones, Edward G Kawaguchi, Yasuo Kisvárday, Zoltán Kubota, Yoshiyuki Lewis, David A Marín, Oscar Markram, Henry McBain, Chris J Meyer, Hanno S Monyer, Hannah Nelson, Sacha B Rockland, Kathleen Rossier, Jean Rubenstein, John L R Rudy, Bernardo Scanziani, Massimo Shepherd, Gordon M Sherwood, Chet C Staiger, Jochen F Tamás, Gábor Thomson, Alex Wang, Yun Yuste, Rafael Ascoli, Giorgio A Producer: 20130411 In: Nature reviews. Neuroscience vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	288.	Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. [electronic resource] by Al Turki, Saeed Manickaraj, Ashok K Mercer, Catherine L Gerety, Sebastian S Hitz, Marc-Phillip Lindsay, Sarah D'Alessandro, Lisa C A Swaminathan, G Jawahar Bentham, Jamie Arndt, Anne-Karin Louw, Jacoba Breckpot, Jeroen Gewillig, Marc Thienpont, Bernard Abdul-Khaliq, Hashim Harnack, Christine Hoff, Kirstin Kramer, Hans-Heiner Schubert, Stephan Siebert, Reiner Toka, Okan Cosgrove, Catherine Watkins, Hugh Lucassen, Anneke M O'Kelly, Ita M Salmon, Anthony P Bu'Lock, Frances A Granados-Riveron, Javier Setchfield, Kerry Thornborough, Chris Brook, J David Mulder, Barbara Klaassen, Sabine Bhattacharya, Shoumo Devriendt, Koen FitzPatrick, David R Wilson, David I Mital, Seema Hurles, Matthew E Publication details: American journal of human genetics Mar 2016 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	289.	Quantifying the contribution of recessive coding variation to developmental disorders. [electronic resource] by Martin, Hilary C Jones, Wendy D McIntyre, Rebecca Sanchez-Andrade, Gabriela Sanderson, Mark Stephenson, James D Jones, Carla P Handsaker, Juliet Gallone, Giuseppe Bruntraeger, Michaela McRae, Jeremy F Prigmore, Elena Short, Patrick Niemi, Mari Kaplanis, Joanna Radford, Elizabeth J Akawi, Nadia Balasubramanian, Meena Dean, John Horton, Rachel Hulbert, Alice Johnson, Diana S Johnson, Katie Kumar, Dhavendra Lynch, Sally Ann Mehta, Sarju G Morton, Jenny Parker, Michael J Splitt, Miranda Turnpenny, Peter D Vasudevan, Pradeep C Wright, Michael Bassett, Andrew Gerety, Sebastian S Wright, Caroline F FitzPatrick, David R Firth, Helen V Hurles, Matthew E Barrett, Jeffrey C Producer: 20190225 In: Science (New York, N.Y.) vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	290.	Rare variants in NR2F2 cause congenital heart defects in humans. [electronic resource] by Al Turki, Saeed Manickaraj, Ashok K Mercer, Catherine L Gerety, Sebastian S Hitz, Marc-Phillip Lindsay, Sarah D'Alessandro, Lisa C A Swaminathan, G Jawahar Bentham, Jamie Arndt, Anne-Karin Louw, Jacoba Low, Jacoba Breckpot, Jeroen Gewillig, Marc Thienpont, Bernard Abdul-Khaliq, Hashim Harnack, Christine Hoff, Kirstin Kramer, Hans-Heiner Schubert, Stephan Siebert, Reiner Toka, Okan Cosgrove, Catherine Watkins, Hugh Lucassen, Anneke M O'Kelly, Ita M Salmon, Anthony P Bu'lock, Frances A Granados-Riveron, Javier Setchfield, Kerry Thornborough, Chris Brook, J David Mulder, Barbara Klaassen, Sabine Bhattacharya, Shoumo Devriendt, Koen Fitzpatrick, David F Wilson, David I Mital, Seema Hurles, Matthew E Producer: 20140530 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	291.	Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. [electronic resource] by Kline, Antonie D Moss, Joanna F Selicorni, Angelo Bisgaard, Anne-Marie Deardorff, Matthew A Gillett, Peter M Ishman, Stacey L Kerr, Lynne M Levin, Alex V Mulder, Paul A Ramos, Feliciano J Wierzba, Jolanta Ajmone, Paola Francesca Axtell, David Blagowidow, Natalie Cereda, Anna Costantino, Antonella Cormier-Daire, Valerie FitzPatrick, David Grados, Marco Groves, Laura Guthrie, Whitney Huisman, Sylvia Kaiser, Frank J Koekkoek, Gerritjan Levis, Mary Mariani, Milena McCleery, Joseph P Menke, Leonie A Metrena, Amy O'Connor, Julia Oliver, Chris Pie, Juan Piening, Sigrid Potter, Carol J Quaglio, Ana L Redeker, Egbert Richman, David Rigamonti, Claudia Shi, Angell Tümer, Zeynep Van Balkom, Ingrid D C Hennekam, Raoul C Producer: 20190716 In: Nature reviews. Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	292.	Phenotypes and genotypes in individuals with SMC1A variants. [electronic resource] by Huisman, Sylvia Mulder, Paul A Redeker, Egbert Bader, Ingrid Bisgaard, Anne-Marie Brooks, Alice Cereda, Anna Cinca, Constanza Clark, Dinah Cormier-Daire, Valerie Deardorff, Matthew A Diderich, Karin Elting, Mariet van Essen, Anthonie FitzPatrick, David Gervasini, Cristina Gillessen-Kaesbach, Gabriele Girisha, Katta M Hilhorst-Hofstee, Yvonne Hopman, Saskia Horn, Denise Isrie, Mala Jansen, Sandra Jespersgaard, Cathrine Kaiser, Frank J Kaur, Maninder Kleefstra, Tjitske Krantz, Ian D Lakeman, Phillis Landlust, Annemiek Lessel, Davor Michot, Caroline Moss, Jo Noon, Sarah E Oliver, Chris Parenti, Ilaria Pie, Juan Ramos, Feliciano J Rieubland, Claudine Russo, Silvia Selicorni, Angelo Tümer, Zeynep Vorstenbosch, Rieneke Wenger, Tara L van Balkom, Ingrid Piening, Sigrid Wierzba, Jolanta Hennekam, Raoul C Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	293.	Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. [electronic resource] by Ansari, Morad Rainger, Jacqueline Hanson, Isabel M Williamson, Kathleen A Sharkey, Freddie Harewood, Louise Sandilands, Angela Clayton-Smith, Jill Dollfus, Helene Bitoun, Pierre Meire, Francoise Fantes, Judy Franco, Brunella Lorenz, Birgit Taylor, David S Stewart, Fiona Willoughby, Colin E McEntagart, Meriel Khaw, Peng Tee Clericuzio, Carol Van Maldergem, Lionel Williams, Denise Newbury-Ecob, Ruth Traboulsi, Elias I Silva, Eduardo D Madlom, Mukhlis M Goudie, David R Fleck, Brian W Wieczorek, Dagmar Kohlhase, Juergen McTrusty, Alice D Gardiner, Carol Yale, Christopher Moore, Anthony T Russell-Eggitt, Isabelle Islam, Lily Lees, Melissa Beales, Philip L Tuft, Stephen J Solano, Juan B Splitt, Miranda Hertz, Jens Michael Prescott, Trine E Shears, Deborah J Nischal, Ken K Doco-Fenzy, Martine Prieur, Fabienne Temple, I Karen Lachlan, Katherine L Damante, Giuseppe Morrison, Danny A van Heyningen, Veronica FitzPatrick, David R Producer: 20170221 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	294.	The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. [electronic resource] by Köhler, Sebastian Doelken, Sandra C Mungall, Christopher J Bauer, Sebastian Firth, Helen V Bailleul-Forestier, Isabelle Black, Graeme C M Brown, Danielle L Brudno, Michael Campbell, Jennifer FitzPatrick, David R Eppig, Janan T Jackson, Andrew P Freson, Kathleen Girdea, Marta Helbig, Ingo Hurst, Jane A Jähn, Johanna Jackson, Laird G Kelly, Anne M Ledbetter, David H Mansour, Sahar Martin, Christa L Moss, Celia Mumford, Andrew Ouwehand, Willem H Park, Soo-Mi Riggs, Erin Rooney Scott, Richard H Sisodiya, Sanjay Van Vooren, Steven Wapner, Ronald J Wilkie, Andrew O M Wright, Caroline F Vulto-van Silfhout, Anneke T de Leeuw, Nicole de Vries, Bert B A Washingthon, Nicole L Smith, Cynthia L Westerfield, Monte Schofield, Paul Ruef, Barbara J Gkoutos, Georgios V Haendel, Melissa Smedley, Damian Lewis, Suzanna E Robinson, Peter N Producer: 20140317 In: Nucleic acids research vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	295.	Evolution of pathogenicity and sexual reproduction in eight Candida genomes. [electronic resource] by Butler, Geraldine Rasmussen, Matthew D Lin, Michael F Santos, Manuel A S Sakthikumar, Sharadha Munro, Carol A Rheinbay, Esther Grabherr, Manfred Forche, Anja Reedy, Jennifer L Agrafioti, Ino Arnaud, Martha B Bates, Steven Brown, Alistair J P Brunke, Sascha Costanzo, Maria C Fitzpatrick, David A de Groot, Piet W J Harris, David Hoyer, Lois L Hube, Bernhard Klis, Frans M Kodira, Chinnappa Lennard, Nicola Logue, Mary E Martin, Ronny Neiman, Aaron M Nikolaou, Elissavet Quail, Michael A Quinn, Janet Santos, Maria C Schmitzberger, Florian F Sherlock, Gavin Shah, Prachi Silverstein, Kevin A T Skrzypek, Marek S Soll, David Staggs, Rodney Stansfield, Ian Stumpf, Michael P H Sudbery, Peter E Srikantha, Thyagarajan Zeng, Qiandong Berman, Judith Berriman, Matthew Heitman, Joseph Gow, Neil A R Lorenz, Michael C Birren, Bruce W Kellis, Manolis Cuomo, Christina A Producer: 20090610 In: Nature vol. 459 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	296.	An excess of chromosome 1 breakpoints in male infertility. [electronic resource] by Bache, Iben Assche, Elvire Van Cingoz, Sultan Bugge, Merete Tümer, Zeynep Hjorth, Mads Lundsteen, Claes Lespinasse, James Winther, Kirsten Niebuhr, Anita Kalscheuer, Vera Liebaers, Inge Bonduelle, Maryse Tournaye, Herman Ayuso, Carmen Barbi, Gotthold Blennow, Elisabeth Bourrouillou, Georges Brondum-Nielsen, Karen Bruun-Petersen, Gert Croquette, Marie-Francoise Dahoun, Sophie Dallapiccola, Bruno Davison, Val Delobel, Bruno Duba, Hans-Christoph Duprez, Laurence Ferguson-Smith, Malcolm Fitzpatrick, David R Grace, Elizabeth Hansmann, Ingo Hultén, Maj Jensen, Peter Ka Jonveaux, Philippe Kristoffersson, Ulf Lopez-Pajares, Isidora McGowan-Jordan, Jean Murken, Jan Orera, Maria Parkin, Tony Passarge, Eberhard Ramos, Carmen Rasmussen, Kirsten Schempp, Werner Schubert, Regine Schwinger, Eberhard Shabtai, Fiorella Smith, Kim Stallings, Raymond Stefanova, Margarita Tranebjerg, Lisbeth Turleau, Catherine van der Hagen, Carl Birger Vekemans, Michel Vokac, Nadja Kokalj Wagner, Klaus Wahlstroem, Jan Zelante, Leopoldo Tommerup, Niels Producer: 20050324 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	297.	Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. [electronic resource] by Shieh, Christine Jones, Natasha Vanle, Brigitte Au, Margaret Huang, Alden Y Silva, Ana P G Lee, Hane Douine, Emilie D Otero, Maria G Choi, Andrew Grand, Katheryn Taff, Ingrid P Delgado, Mauricio R Hajianpour, M J Seeley, Andrea Rohena, Luis Vernon, Hilary Gripp, Karen W Vergano, Samantha A Mahida, Sonal Naidu, Sakkubai Sousa, Ana Berta Wain, Karen E Challman, Thomas D Beek, Geoffrey Basel, Donald Ranells, Judith Smith, Rosemarie Yusupov, Roman Freckmann, Mary-Louise Ohden, Lisa Davis-Keppen, Laura Chitayat, David Dowling, James J Finkel, Richard Dauber, Andrew Spillmann, Rebecca Pena, Loren D M Metcalfe, Kay Splitt, Miranda Lachlan, Katherine McKee, Shane A Hurst, Jane Fitzpatrick, David R Morton, Jenny E V Cox, Helen Venkateswaran, Sunita Young, Juan I Marsh, Eric D Nelson, Stanley F Martinez, Julian A Graham, John M Kini, Usha Mackay, Joel P Pierson, Tyler Mark Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Apr 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)
	298.	GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. [electronic resource] by Shieh, Christine Jones, Natasha Vanle, Brigitte Au, Margaret Huang, Alden Y Silva, Ana P G Lee, Hane Douine, Emilie D Otero, Maria G Choi, Andrew Grand, Katheryn Taff, Ingrid P Delgado, Mauricio R Hajianpour, M J Seeley, Andrea Rohena, Luis Vernon, Hilary Gripp, Karen W Vergano, Samantha A Mahida, Sonal Naidu, Sakkubai Sousa, Ana Berta Wain, Karen E Challman, Thomas D Beek, Geoffrey Basel, Donald Ranells, Judith Smith, Rosemarie Yusupov, Roman Freckmann, Mary-Louise Ohden, Lisa Davis-Keppen, Laura Chitayat, David Dowling, James J Finkel, Richard Dauber, Andrew Spillmann, Rebecca Pena, Loren D M Metcalfe, Kay Splitt, Miranda Lachlan, Katherine McKee, Shane A Hurst, Jane Fitzpatrick, David R Morton, Jenny E V Cox, Helen Venkateswaran, Sunita Young, Juan I Marsh, Eric D Nelson, Stanley F Martinez, Julian A Graham, John M Kini, Usha Mackay, Joel P Pierson, Tyler Mark Producer: 20210427 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)
	299.	Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. [electronic resource] by Nellåker, Christoffer Alkuraya, Fowzan S Baynam, Gareth Bernier, Raphael A Bernier, Francois P J Boulanger, Vanessa Brudno, Michael Brunner, Han G Clayton-Smith, Jill Cogné, Benjamin Dawkins, Hugh J S deVries, Bert B A Douzgou, Sofia Dudding-Byth, Tracy Eichler, Evan E Ferlaino, Michael Fieggen, Karen Firth, Helen V FitzPatrick, David R Gration, Dylan Groza, Tudor Haendel, Melissa Hallowell, Nina Hamosh, Ada Hehir-Kwa, Jayne Hitz, Marc-Phillip Hughes, Mark Kini, Usha Kleefstra, Tjitske Kooy, R Frank Krawitz, Peter Küry, Sébastien Lees, Melissa Lyon, Gholson J Lyonnet, Stanislas Marcadier, Julien L Meyn, Stephen Moslerová, Veronika Politei, Juan M Poulton, Cathryn C Raymond, F Lucy Reijnders, Margot R F Robinson, Peter N Romano, Corrado Rose, Catherine M Sainsbury, David C G Schofield, Lyn Sutton, Vernon R Turnovec, Marek Van Dijck, Anke Van Esch, Hilde Wilkie, Andrew O M Publication details: Frontiers in genetics 2019 In: Frontiers in genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	300.	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. [electronic resource] by Gil-Rodríguez, María Concepción Deardorff, Matthew A Ansari, Morad Tan, Christopher A Parenti, Ilaria Baquero-Montoya, Carolina Ousager, Lilian B Puisac, Beatriz Hernández-Marcos, María Teresa-Rodrigo, María Esperanza Marcos-Alcalde, Iñigo Wesselink, Jan-Jaap Lusa-Bernal, Silvia Bijlsma, Emilia K Braunholz, Diana Bueno-Martinez, Inés Clark, Dinah Cooper, Nicola S Curry, Cynthia J Fisher, Richard Fryer, Alan Ganesh, Jaya Gervasini, Cristina Gillessen-Kaesbach, Gabriele Guo, Yiran Hakonarson, Hakon Hopkin, Robert J Kaur, Maninder Keating, Brendan J Kibaek, María Kinning, Esther Kleefstra, Tjitske Kline, Antonie D Kuchinskaya, Ekaterina Larizza, Lidia Li, Yun R Liu, Xuanzhu Mariani, Milena Picker, Jonathan D Pié, Ángeles Pozojevic, Jelena Queralt, Ethel Richer, Julie Roeder, Elizabeth Sinha, Anubha Scott, Richard H So, Joyce Wusik, Katherine A Wilson, Louise Zhang, Jianguo Gómez-Puertas, Paulino Casale, César H Ström, Lena Selicorni, Angelo Ramos, Feliciano J Jackson, Laird G Krantz, Ian D Das, Soma Hennekam, Raoul C M Kaiser, Frank J FitzPatrick, David R Pié, Juan Producer: 20151217 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. [electronic resource] by

Shieh, Christine
Jones, Natasha
Vanle, Brigitte
Au, Margaret
Huang, Alden Y
Silva, Ana P G
Lee, Hane
Douine, Emilie D
Otero, Maria G
Choi, Andrew
Grand, Katheryn
Taff, Ingrid P
Delgado, Mauricio R
Hajianpour, M J
Seeley, Andrea
Rohena, Luis
Vernon, Hilary
Gripp, Karen W
Vergano, Samantha A
Mahida, Sonal
Naidu, Sakkubai
Sousa, Ana Berta
Wain, Karen E
Challman, Thomas D
Beek, Geoffrey
Basel, Donald
Ranells, Judith
Smith, Rosemarie
Yusupov, Roman
Freckmann, Mary-Louise
Ohden, Lisa
Davis-Keppen, Laura
Chitayat, David
Dowling, James J
Finkel, Richard
Dauber, Andrew
Spillmann, Rebecca
Pena, Loren D M
Metcalfe, Kay
Splitt, Miranda
Lachlan, Katherine
McKee, Shane A
Hurst, Jane
Fitzpatrick, David R
Morton, Jenny E V
Cox, Helen
Venkateswaran, Sunita
Young, Juan I
Marsh, Eric D
Nelson, Stanley F
Martinez, Julian A
Graham, John M
Kini, Usha
Mackay, Joel P
Pierson, Tyler Mark

Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Apr 2020

In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22

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