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	1.	Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation. [electronic resource] by Magalhães, Joana Madureira, Núria Medeiros, Rita Fernandes, Paula C Oufadem, Myriam Amiel, Jeanne Estêvão, M Helena Reis, M Guilhermina Producer: 20160115 In: Sleep & breathing = Schlaf & Atmung vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism. [electronic resource] by Li, Dong Gordon, Christopher T Oufadem, Myriam Amiel, Jeanne Kanwar, Harsh S Bakay, Marina Wang, Tiancheng Hakonarson, Hakon Levine, Michael A Producer: 20190910 In: The Journal of clinical endocrinology and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. [electronic resource] by Gordon, Christopher T Chopra, Maya Oufadem, Myriam Alibeu, Olivier Bras, Marc Boddaert, Nathalie Bole-Feysot, Christine Nitschké, Patrick Abadie, Véronique Lyonnet, Stanislas Amiel, Jeanne Producer: 20180621 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. [electronic resource] by Guimier, Anne Gordon, Christopher T Hully, Marie Blauwblomme, Thomas Minard-Colin, Véronique Bole-Feysot, Christine Nitschké, Patrick Oufadem, Myriam Boddaert, Nathalie Sarnacki, Sabine Amiel, Jeanne Producer: 20200708 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. [electronic resource] by Yu, Kris P T Luk, Ho-Ming Gordon, Christopher T Fung, Genevieve Oufadem, Myriam Garcia-Barcelo, Maria M Amiel, Jeanne Chung, Brian H Y Lo, Ivan F M Tiong, Yang Tan Producer: 20180903 In: Clinical dysmorphology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. [electronic resource] by de Pontual, Loïc Yao, Evelyn Callier, Patrick Faivre, Laurence Drouin, Valérie Cariou, Sandra Van Haeringen, Arie Geneviève, David Goldenberg, Alice Oufadem, Myriam Manouvrier, Sylvie Munnich, Arnold Vidigal, Joana Alves Vekemans, Michel Lyonnet, Stanislas Henrion-Caude, Alexandra Ventura, Andrea Amiel, Jeanne Producer: 20111121 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Germline gain-of-function mutations of ALK disrupt central nervous system development. [electronic resource] by de Pontual, Loïc Kettaneh, Dania Gordon, Christopher T Oufadem, Myriam Boddaert, Nathalie Lees, Melissa Balu, Laurent Lachassinne, Eric Petros, Andy Mollet, Julie Wilson, Louise C Munnich, Arnold Brugière, Laurence Delattre, Olivier Vekemans, Michel Etchevers, Heather Lyonnet, Stanislas Janoueix-Lerosey, Isabelle Amiel, Jeanne Producer: 20120327 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. [electronic resource] by Gordon, Christopher T Petit, Florence Kroisel, Peter M Jakobsen, Linda Zechi-Ceide, Roseli Maria Oufadem, Myriam Bole-Feysot, Christine Pruvost, Solenn Masson, Cécile Tores, Frédéric Hieu, Thierry Nitschké, Patrick Lindholm, Pernille Pellerin, Philippe Guion-Almeida, Maria Leine Kokitsu-Nakata, Nancy Mizue Vendramini-Pittoli, Siulan Munnich, Arnold Lyonnet, Stanislas Holder-Espinasse, Muriel Amiel, Jeanne Producer: 20140212 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. [electronic resource] by Paul, Antoine Drecourt, Anthony Petit, Floriane Deguine, Delphine Dupin Vasnier, Christelle Oufadem, Myriam Masson, Cécile Bonnet, Crystel Masmoudi, Saber Mosnier, Isabelle Mahieu, Laurence Bouccara, Didier Kaplan, Josseline Challe, Georges Domange, Christelle Mochel, Fanny Sterkers, Olivier Gerber, Sylvie Nitschke, Patrick Bole-Feysot, Christine Jonard, Laurence Gherbi, Souad Mercati, Oriane Ben Aissa, Ines Lyonnet, Stanislas Rötig, Agnès Delahodde, Agnès Marlin, Sandrine Producer: 20171016 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)
	10.	Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. [electronic resource] by Guimier, Anne Gordon, Christopher T Godard, François Ravenscroft, Gianina Oufadem, Myriam Vasnier, Christelle Rambaud, Caroline Nitschke, Patrick Bole-Feysot, Christine Masson, Cécile Dauger, Stéphane Longman, Cheryl Laing, Nigel G Kugener, Béatrice Bonnet, Damien Bouvagnet, Patrice Di Filippo, Sylvie Probst, Vincent Redon, Richard Charron, Philippe Rötig, Agnès Lyonnet, Stanislas Dautant, Alain de Pontual, Loïc di Rago, Jean-Paul Delahodde, Agnès Amiel, Jeanne Producer: 20170502 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. [electronic resource] by Alessandri, Jean-Luc Gordon, Christopher T Jacquemont, Marie-Line Gruchy, Nicolas Ajeawung, Norbert F Benoist, Guillaume Oufadem, Myriam Chebil, Asma Duffourd, Yannis Dumont, Coralie Gérard, Marion Kuentz, Paul Jouan, Thibaud Filippini, Francesca Nguyen, Thi Tuyet Mai Alibeu, Olivier Bole-Feysot, Christine Nitschké, Patrick Omarjee, Asma Ramful, Duksha Randrianaivo, Hanitra Doray, Bérénice Faivre, Laurence Amiel, Jeanne Campeau, Philippe M Thevenon, Julien Producer: 20181221 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. [electronic resource] by Gordon, Christopher T Petit, Florence Oufadem, Myriam Decaestecker, Charles Jourdain, Anne-Sophie Andrieux, Joris Malan, Valérie Alessandri, Jean-Luc Baujat, Geneviève Baumann, Clarisse Boute-Benejean, Odile Caumes, Roseline Delobel, Bruno Dieterich, Klaus Gaillard, Dominique Gonzales, Marie Lacombe, Didier Escande, Fabienne Manouvrier-Hanu, Sylvie Marlin, Sandrine Mathieu-Dramard, Michèle Mehta, Sarju G Simonic, Ingrid Munnich, Arnold Vekemans, Michel Porchet, Nicole de Pontual, Loïc Sarnacki, Sabine Attie-Bitach, Tania Lyonnet, Stanislas Holder-Espinasse, Muriel Amiel, Jeanne Producer: 20130613 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. [electronic resource] by Lehalle, Daphné Gordon, Christopher T Oufadem, Myriam Goudefroye, Géraldine Boutaud, Lucile Alessandri, Jean-Luc Baena, Neus Baujat, Geneviève Baumann, Clarisse Boute-Benejean, Odile Caumes, Roseline Decaestecker, Charles Gaillard, Dominique Goldenberg, Alice Gonzales, Marie Holder-Espinasse, Muriel Jacquemont, Marie-Line Lacombe, Didier Manouvrier-Hanu, Sylvie Marlin, Sandrine Mathieu-Dramard, Michèle Morin, Gilles Pasquier, Laurent Petit, Florence Rio, Marlène Smigiel, Robert Thauvin-Robinet, Christel Vasiljevic, Alexandre Verloes, Alain Malan, Valérie Munnich, Arnold de Pontual, Loïc Vekemans, Michel Lyonnet, Stanislas Attié-Bitach, Tania Amiel, Jeanne Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. [electronic resource] by Gordon, Christopher T Weaver, K Nicole Zechi-Ceide, Roseli Maria Madsen, Erik C Tavares, Andre L P Oufadem, Myriam Kurihara, Yukiko Adameyko, Igor Picard, Arnaud Breton, Sylvain Pierrot, Sébastien Biosse-Duplan, Martin Voisin, Norine Masson, Cécile Bole-Feysot, Christine Nitschké, Patrick Delrue, Marie-Ange Lacombe, Didier Guion-Almeida, Maria Leine Moura, Priscila Padilha Garib, Daniela Gamba Munnich, Arnold Ernfors, Patrik Hufnagel, Robert B Hopkin, Robert J Kurihara, Hiroki Saal, Howard M Weaver, David D Katsanis, Nicholas Lyonnet, Stanislas Golzio, Christelle Clouthier, David E Amiel, Jeanne Producer: 20150529 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)
	15.	MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. [electronic resource] by Guimier, Anne Gabriel, George C Bajolle, Fanny Tsang, Michael Liu, Hui Noll, Aaron Schwartz, Molly El Malti, Rajae Smith, Laurie D Klena, Nikolai T Jimenez, Gina Miller, Neil A Oufadem, Myriam Moreau de Bellaing, Anne Yagi, Hisato Saunders, Carol J Baker, Candice N Di Filippo, Sylvie Peterson, Kevin A Thiffault, Isabelle Bole-Feysot, Christine Cooley, Linda D Farrow, Emily G Masson, Cécile Schoen, Patric Deleuze, Jean-François Nitschké, Patrick Lyonnet, Stanislas de Pontual, Loic Murray, Stephen A Bonnet, Damien Kingsmore, Stephen F Amiel, Jeanne Bouvagnet, Patrice Lo, Cecilia W Gordon, Christopher T 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)
	16.	A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. [electronic resource] by Palmer, Elizabeth E Kumar, Raman Gordon, Christopher T Shaw, Marie Hubert, Laurence Carroll, Renee Rio, Marlène Murray, Lucinda Leffler, Melanie Dudding-Byth, Tracy Oufadem, Myriam Lalani, Seema R Lewis, Andrea M Xia, Fan Tam, Allison Webster, Richard Brammah, Susan Filippini, Francesca Pollard, John Spies, Judy Minoche, Andre E Cowley, Mark J Risen, Sarah Powell-Hamilton, Nina N Tusi, Jessica E Immken, LaDonna Nagakura, Honey Bole-Feysot, Christine Nitschké, Patrick Garrigue, Alexandrine de Saint Basile, Geneviève Kivuva, Emma Scott, Richard H Rendon, Augusto Munnich, Arnold Newman, William Kerr, Bronwyn Besmond, Claude Rosenfeld, Jill A Amiel, Jeanne Field, Michael Gecz, Jozef Producer: 20180102 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)
	17.	Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. [electronic resource] by Gordon, Christopher T Vuillot, Alice Marlin, Sandrine Gerkes, Erica Henderson, Alex AlKindy, Adila Holder-Espinasse, Muriel Park, Sarah S Omarjee, Asma Sanchis-Borja, Mateo Bdira, Eya Ben Oufadem, Myriam Sikkema-Raddatz, Birgit Stewart, Alison Palmer, Rodger McGowan, Ruth Petit, Florence Delobel, Bruno Speicher, Michael R Aurora, Paul Kilner, David Pellerin, Philippe Simon, Marie Bonnefont, Jean-Paul Tobias, Edward S García-Miñaúr, Sixto Bitner-Glindzicz, Maria Lindholm, Pernille Meijer, Brigitte A Abadie, Véronique Denoyelle, Françoise Vazquez, Marie-Paule Rotky-Fast, Christa Couloigner, Vincent Pierrot, Sébastien Manach, Yves Breton, Sylvain Hendriks, Yvonne M C Munnich, Arnold Jakobsen, Linda Kroisel, Peter Lin, Angela Kaban, Leonard B Basel-Vanagaite, Lina Wilson, Louise Cunningham, Michael L Lyonnet, Stanislas Amiel, Jeanne Producer: 20131125 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. [electronic resource] by Gordon, Christopher T Xue, Shifeng Yigit, Gökhan Filali, Hicham Chen, Kelan Rosin, Nadine Yoshiura, Koh-Ichiro Oufadem, Myriam Beck, Tamara J McGowan, Ruth Magee, Alex C Altmüller, Janine Dion, Camille Thiele, Holger Gurzau, Alexandra D Nürnberg, Peter Meschede, Dieter Mühlbauer, Wolfgang Okamoto, Nobuhiko Varghese, Vinod Irving, Rachel Sigaudy, Sabine Williams, Denise Ahmed, S Faisal Bonnard, Carine Kong, Mung Kei Ratbi, Ilham Fejjal, Nawfal Fikri, Meriem Elalaoui, Siham Chafai Reigstad, Hallvard Bole-Feysot, Christine Nitschké, Patrick Ragge, Nicola Lévy, Nicolas Tunçbilek, Gökhan Teo, Audrey S M Cunningham, Michael L Sefiani, Abdelaziz Kayserili, Hülya Murphy, James M Chatdokmaiprai, Chalermpong Hillmer, Axel M Wattanasirichaigoon, Duangrurdee Lyonnet, Stanislas Magdinier, Frédérique Javed, Asif Blewitt, Marnie E Amiel, Jeanne Wollnik, Bernd Reversade, Bruno Producer: 20170905 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. [electronic resource] by Xu, Mingchu Xie, Yajing Angela Abouzeid, Hana Gordon, Christopher T Fiorentino, Alessia Sun, Zixi Lehman, Anna Osman, Ihab S Dharmat, Rachayata Riveiro-Alvarez, Rosa Bapst-Wicht, Linda Babino, Darwin Arno, Gavin Busetto, Virginia Zhao, Li Li, Hui Lopez-Martinez, Miguel A Azevedo, Liliana F Hubert, Laurence Pontikos, Nikolas Eblimit, Aiden Lorda-Sanchez, Isabel Kheir, Valeria Plagnol, Vincent Oufadem, Myriam Soens, Zachry T Yang, Lizhu Bole-Feysot, Christine Pfundt, Rolph Allaman-Pillet, Nathalie Nitschké, Patrick Cheetham, Michael E Lyonnet, Stanislas Agrawal, Smriti A Li, Huajin Pinton, Gaëtan Michaelides, Michel Besmond, Claude Li, Yumei Yuan, Zhisheng von Lintig, Johannes Webster, Andrew R Le Hir, Hervé Stoilov, Peter Amiel, Jeanne Hardcastle, Alison J Ayuso, Carmen Sui, Ruifang Chen, Rui Allikmets, Rando Schorderet, Daniel F Producer: 20170426 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)