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	1.	Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome. [electronic resource] by Xavier, Jean Bourvis, Nadège Tanet, Antoine Ramos, Tatiana Perisse, Didier Marey, Isabelle Cohen, David Consoli, Angèle Producer: 20180105 In: Journal of child and adolescent psychopharmacology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome. [electronic resource] by Brioude, Frederic Nicolas, Carole Marey, Isabelle Gaillard, Stephan Bernier, Michèle Das Neves, Cristina Le Bouc, Yves Touraine, Philippe Netchine, Irene Producer: 20170407 In: Hormone research in paediatrics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Craniosynostosis: A rare complication of pycnodysostosis. [electronic resource] by Osimani, Sara Husson, Isabelle Passemard, Sandrine Elmaleh, Monique Perrin, Laurence Quelin, Chloé Marey, Isabelle Delalande, Olivier Filocamo, Mirella Verloes, Alain Producer: 20100714 In: European journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. [electronic resource] by Rambaud, Jérôme Marey, Isabelle Dupont, Céline Perrin-Sabourin, Laurence Capri, Yline Tabet, Anne Claude Benzacken, Brigitte Verloes, Alain Aboura, Azzedine Gérard, Marion Producer: 20121109 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Anthropometric charts and congenital anomalies in newborns with Down syndrome. [electronic resource] by Mircher, Clotilde Toulas, Jeanne Cieuta-Walti, Cécile Marey, Isabelle Conte, Martine González Briceño, Laura Tanguy, Marie-Laure Rethore, Marie-Odile Ravel, Aime 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)
	6.	Acute Regression in Young People with Down Syndrome. [electronic resource] by Mircher, Clotilde Cieuta-Walti, Cécile Marey, Isabelle Rebillat, Anne-Sophie Cretu, Laura Milenko, Eliane Conte, Martine Sturtz, Franck Rethore, Marie-Odile Ravel, Aimé Publication details: Brain sciences May 2017 In: Brain sciences vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms. [electronic resource] by Marey, Isabelle Ben Yaou, Rabah Deburgrave, Nathalie Vasson, Aurélie Nectoux, Juliette Leturcq, France Eymard, Bruno Laforet, Pascal Behin, Anthony Stojkovic, Tanya Mayer, Michèle Tiffreau, Vincent Desguerre, Isabelle Boyer, François Constant Nadaj-Pakleza, Aleksandra Ferrer, Xavier Wahbi, Karim Becane, Henri-Marc Claustres, Mireille Chelly, Jamel Cossee, Mireille Producer: 20180315 In: Journal of neuromuscular diseases vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. [electronic resource] by Ito, Yoko Carss, Keren J Duarte, Sofia T Hartley, Taila Keren, Boris Kurian, Manju A Marey, Isabelle Charles, Perinne Mendonça, Carla Nava, Caroline Pfundt, Rolph Sanchis-Juan, Alba van Bokhoven, Hans van Essen, Anthony van Ravenswaaij-Arts, Conny Boycott, Kym M Kernohan, Kristin D Dyack, Sarah Raymond, F Lucy Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. [electronic resource] by Yates, Thabo M Drucker, Morgan Barnicoat, Angela Low, Karen Gerkes, Erica H Fry, Andrew E Parker, Michael J O'Driscoll, Mary Charles, Perrine Cox, Helen Marey, Isabelle Keren, Boris Rinne, Tuula McEntagart, Meriel Ramachandran, Vijaya Drury, Suzanne Vansenne, Fleur Sival, Deborah A Herkert, Johanna C Callewaert, Bert Tan, Wen-Hann Balasubramanian, Meena Producer: 20210721 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial. [electronic resource] by Mircher, Clotilde Sacco, Silvia Bouis, Charles Gallard, Jennifer Pichot, Aude Le Galloudec, Eric Cieuta, Cécile Marey, Isabelle Greiner-Mahler, Oliver Dorison, Nathalie Gambarini, Alicia Stora, Samantha Durand, Sophie Polak, Michel Baruchel, André Schlumberger, Emilie Dewailly, Jean Azar-Kolakez, Ahlam Guéant-Rodriguez, Rosa-Maria Guéant, Jean-Louis Borderie, Didier Bonnefont-Rousselot, Dominique Blondiaux, Elodie Ravel, Aimé Sturtz, Franck G Producer: 20200608 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)
	11.	Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability. [electronic resource] by Heide, Solveig Keren, Boris Billette de Villemeur, Thierry Chantot-Bastaraud, Sandra Depienne, Christel Nava, Caroline Mignot, Cyril Jacquette, Aurélia Fonteneau, Eric Lejeune, Elodie Mach, Corinne Marey, Isabelle Whalen, Sandra Lacombe, Didier Naudion, Sophie Rooryck, Caroline Toutain, Annick Caignec, Cédric Le Haye, Damien Olivier-Faivre, Laurence Masurel-Paulet, Alice Thauvin-Robinet, Christel Lesne, Fabien Faudet, Anne Ville, Dorothée des Portes, Vincent Sanlaville, Damien Siffroi, Jean-Pierre Moutard, Marie-Laure Héron, Delphine Producer: 20170905 In: The Journal of pediatrics vol. 185 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. [electronic resource] by Bar, Claire Barcia, Giulia Jennesson, Mélanie Le Guyader, Gwenaël Schneider, Amy Mignot, Cyril Lesca, Gaetan Breuillard, Delphine Montomoli, Martino Keren, Boris Doummar, Diane Billette de Villemeur, Thierry Afenjar, Alexandra Marey, Isabelle Gerard, Marion Isnard, Hervé Poisson, Alice Dupont, Sophie Berquin, Patrick Meyer, Pierre Genevieve, David De Saint Martin, Anne El Chehadeh, Salima Chelly, Jamel Guët, Agnès Scalais, Emmanuel Dorison, Nathalie Myers, Candace T Mefford, Heather C Howell, Katherine B Marini, Carla Freeman, Jeremy L Nica, Anca Terrone, Gaetano Sekhara, Tayeb Lebre, Anne-Sophie Odent, Sylvie Sadleir, Lynette G Munnich, Arnold Guerrini, Renzo Scheffer, Ingrid E Kabashi, Edor Nabbout, Rima Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. [electronic resource] by Mignot, Cyril von Stülpnagel, Celina Nava, Caroline Ville, Dorothée Sanlaville, Damien Lesca, Gaetan Rastetter, Agnès Gachet, Benoit Marie, Yannick Korenke, G Christoph Borggraefe, Ingo Hoffmann-Zacharska, Dorota Szczepanik, Elżbieta Rudzka-Dybała, Mariola Yiş, Uluç Çağlayan, Hande Isapof, Arnaud Marey, Isabelle Panagiotakaki, Eleni Korff, Christian Rossier, Eva Riess, Angelika Beck-Woedl, Stefanie Rauch, Anita Zweier, Christiane Hoyer, Juliane Reis, André Mironov, Mikhail Bobylova, Maria Mukhin, Konstantin Hernandez-Hernandez, Laura Maher, Bridget Sisodiya, Sanjay Kuhn, Marius Glaeser, Dieter Weckhuysen, Sarah Myers, Candace T Mefford, Heather C Hörtnagel, Konstanze Biskup, Saskia Lemke, Johannes R Héron, Delphine Kluger, Gerhard Depienne, Christel Producer: 20171030 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). [electronic resource] by Bramswig, Nuria C Bertoli-Avella, Aida M Albrecht, Beate Al Aqeel, Aida I Alhashem, Amal Al-Sannaa, Nouriya Bah, Maissa Bröhl, Katharina Depienne, Christel Dorison, Nathalie Doummar, Diane Ehmke, Nadja Elbendary, Hasnaa M Gorokhova, Svetlana Héron, Delphine Horn, Denise James, Kiely Keren, Boris Kuechler, Alma Ismail, Samira Issa, Mahmoud Y Marey, Isabelle Mayer, Michèle McEvoy-Venneri, Jennifer Megarbane, Andre Mignot, Cyril Mohamed, Sarar Nava, Caroline Philip, Nicole Ravix, Cecile Rolfs, Arndt Sadek, Abdelrahim Abdrabou Segebrecht, Lara Stanley, Valentina Trautman, Camille Valence, Stephanie Villard, Laurent Wieland, Thomas Engels, Hartmut Strom, Tim M Zaki, Maha S Gleeson, Joseph G Lüdecke, Hermann-Josef Bauer, Peter Wieczorek, Dagmar Producer: 20180924 In: Human genetics vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A framework to identify contributing genes in patients with Phelan-McDermid syndrome. [electronic resource] by Tabet, Anne-Claude Rolland, Thomas Ducloy, Marie Lévy, Jonathan Buratti, Julien Mathieu, Alexandre Haye, Damien Perrin, Laurence Dupont, Céline Passemard, Sandrine Capri, Yline Verloes, Alain Drunat, Séverine Keren, Boris Mignot, Cyril Marey, Isabelle Jacquette, Aurélia Whalen, Sandra Pipiras, Eva Benzacken, Brigitte Chantot-Bastaraud, Sandra Afenjar, Alexandra Héron, Delphine Le Caignec, Cédric Beneteau, Claire Pichon, Olivier Isidor, Bertrand David, Albert El Khattabi, Laila Kemeny, Stephan Gouas, Laetitia Vago, Philippe Mosca-Boidron, Anne-Laure Faivre, Laurence Missirian, Chantal Philip, Nicole Sanlaville, Damien Edery, Patrick Satre, Véronique Coutton, Charles Devillard, Françoise Dieterich, Klaus Vuillaume, Marie-Laure Rooryck, Caroline Lacombe, Didier Pinson, Lucile Gatinois, Vincent Puechberty, Jacques Chiesa, Jean Lespinasse, James Dubourg, Christèle Quelin, Chloé Fradin, Mélanie Journel, Hubert Toutain, Annick Martin, Dominique Benmansour, Abdelamdjid Leblond, Claire S Toro, Roberto Amsellem, Frédérique Delorme, Richard Bourgeron, Thomas Publication details: NPJ genomic medicine 2017 In: NPJ genomic medicine vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome. [electronic resource] by Tabet, Anne-Claude Rolland, Thomas Ducloy, Marie Lévy, Jonathan Buratti, Julien Mathieu, Alexandre Haye, Damien Perrin, Laurence Dupont, Céline Passemard, Sandrine Capri, Yline Verloes, Alain Drunat, Séverine Keren, Boris Mignot, Cyril Marey, Isabelle Jacquette, Aurélia Whalen, Sandra Pipiras, Eva Benzacken, Brigitte Chantot-Bastaraud, Sandra Afenjar, Alexandra Héron, Delphine Le Caignec, Cédric Beneteau, Claire Pichon, Olivier Isidor, Bertrand David, Albert El Khattabi, Laila Kemeny, Stephan Gouas, Laetitia Vago, Philippe Mosca-Boidron, Anne-Laure Faivre, Laurence Missirian, Chantal Philip, Nicole Sanlaville, Damien Edery, Patrick Satre, Véronique Coutton, Charles Devillard, Françoise Dieterich, Klaus Vuillaume, Marie-Laure Rooryck, Caroline Lacombe, Didier Pinson, Lucile Gatinois, Vincent Puechberty, Jacques Chiesa, Jean Lespinasse, James Dubourg, Christèle Quelin, Chloé Fradin, Mélanie Journel, Hubert Toutain, Annick Martin, Dominique Benmansour, Abdelamdjid Leblond, Claire S Toro, Roberto Amsellem, Frédérique Delorme, Richard Bourgeron, Thomas Publication details: NPJ genomic medicine 2019 In: NPJ genomic medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. [electronic resource] by Zawerton, Ash Mignot, Cyril Sigafoos, Ashley Blackburn, Patrick R Haseeb, Abdul McWalter, Kirsty Ichikawa, Shoji Nava, Caroline Keren, Boris Charles, Perrine Marey, Isabelle Tabet, Anne-Claude Levy, Jonathan Perrin, Laurence Hartmann, Andreas Lesca, Gaetan Schluth-Bolard, Caroline Monin, Pauline Dupuis-Girod, Sophie Guillen Sacoto, Maria J Schnur, Rhonda E Zhu, Zehua Poisson, Alice El Chehadeh, Salima Alembik, Yves Bruel, Ange-Line Lehalle, Daphné Nambot, Sophie Moutton, Sébastien Odent, Sylvie Jaillard, Sylvie Dubourg, Christèle Hilhorst-Hofstee, Yvonne Barbaro-Dieber, Tina Ortega, Lucia Bhoj, Elizabeth J Masser-Frye, Diane Bird, Lynne M Lindstrom, Kristin Ramsey, Keri M Narayanan, Vinodh Fassi, Emily Willing, Marcia Cole, Trevor Salter, Claire G Akilapa, Rhoda Vandersteen, Anthony Canham, Natalie Rump, Patrick Gerkes, Erica H Klein Wassink-Ruiter, Jolien S Bijlsma, Emilia Hoffer, Mariëtte J V Vargas, Marcelo Wojcik, Antonina Cherik, Florian Francannet, Christine Rosenfeld, Jill A Machol, Keren Scott, Daryl A Bacino, Carlos A Wang, Xia Clark, Gary D Bertoli, Marta Zwolinski, Simon Thomas, Rhys H Akay, Ela Chang, Richard C Bressi, Rebekah Sanchez Russo, Rossana Srour, Myriam Russell, Laura Goyette, Anne-Marie E Dupuis, Lucie Mendoza-Londono, Roberto Karimov, Catherine Joseph, Maries Nizon, Mathilde Cogné, Benjamin Kuechler, Alma Piton, Amélie Klee, Eric W Lefebvre, Véronique Clark, Karl J Depienne, Christel Producer: 20210203 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)