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	1.	[Should the knowledge be imperative? The key challenge of high throughput genetics]. [electronic resource] by Isidor, Bertrand Julia, Sophie Nizon, Mathilde Vincent, Marie Producer: 20190404 In: Medecine sciences : M/S vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability. [electronic resource] by Pacault, Mathilde Nizon, Mathilde Pichon, Olivier Vincent, Marie Le Caignec, Cédric Isidor, Bertrand Producer: 20200312 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Clinical and neuroradiological features of the 9p deletion syndrome. [electronic resource] by Spazzapan, Peter Arnaud, Eric Baujat, Genevieve Nizon, Mathilde Malan, Valerie Brunelle, Francis Di Rocco, Federico Producer: 20161102 In: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. [electronic resource] by Le Grignou, Marie Bleriot, Alice Nizon, Mathilde Pacquement, Hélène Houdayer, Claude Thebaud, Estelle Le Meur, Guylène Isidor, Bertrand Producer: 20200403 In: Ophthalmic genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	IMPAD1 mutations in two Catel-Manzke like patients. [electronic resource] by Nizon, Mathilde Alanay, Yasemin Tuysuz, Beyhan Kiper, Pelin Ozlem Simsek Geneviève, David Sillence, David Huber, Celine Munnich, Arnold Cormier-Daire, Valérie 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)
	6.	A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. [electronic resource] by Arthuis, Chloé J Nizon, Mathilde Kömhoff, Martin Beck, Bodo B Riehmer, Vera Bihouée, Tiphaine Bruel, Alexandra Benbrik, Nadir Winer, Norbert Isidor, Bertrand Producer: 20190906 In: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. [electronic resource] by Nizon, Mathilde Boutron, Audrey Boddaert, Nathalie Slama, Abdelhamid Delpech, Hélène Sardet, Claude Brassier, Anaïs Habarou, Florence Delahodde, Agnès Correia, Isabelle Ottolenghi, Chris de Lonlay, Pascale Producer: 20141219 In: Mitochondrion vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. [electronic resource] by Thevenon, Julien Michot, Caroline Bole, Christine Nitschke, Patrick Nizon, Mathilde Faivre, Laurence Munnich, Arnold Lyonnet, Stanislas Bonnefont, Jean-Paul Portes, Vincent Des Amiel, Jeanne Producer: 20160419 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Familial autosomal dominant severe ankyloglossia with tooth abnormalities. [electronic resource] by Lenormand, Anaëlle Khonsari, Roman Corre, Pierre Perrin, Jean Philippe Boscher, Cécile Nizon, Mathilde Pichon, Olivier David, Albert Le Caignec, Cedric Bertin, Helios Isidor, Bertrand Producer: 20190520 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)
	10.	11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. [electronic resource] by Conrad, Solène Demurger, Florence Moradkhani, Kamran Pichon, Olivier Le Caignec, Cédric Pascal, Cécile Thomas, Caroline Bayart, Sophie Perlat, Antoinette Dubourg, Christèle Jaillard, Sylvie Nizon, Mathilde Producer: 20200610 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)
	11.	Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. [electronic resource] by Vallat, Jean-Michel Nizon, Mathilde Magee, Alex Isidor, Bertrand Magy, Laurent Péréon, Yann Richard, Laurence Ouvrier, Robert Cogné, Benjamin Devaux, Jérôme Zuchner, Stephan Mathis, Stéphane Producer: 20170620 In: Journal of neuropathology and experimental neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. [electronic resource] by Nizon, Mathilde Ottolenghi, Chris Valayannopoulos, Vassili Arnoux, Jean-Baptiste Barbier, Valérie Habarou, Florence Desguerre, Isabelle Boddaert, Nathalie Bonnefont, Jean-Paul Acquaviva, Cécile Benoist, Jean-François Rabier, Daniel Touati, Guy de Lonlay, Pascale Producer: 20140717 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. [electronic resource] by Pacault, Mathilde Vincent, Marie Besnard, Thomas Kannengiesser, Caroline Bénéteau, Claire Barbarot, Sébastien Latypova, Xénia Belabbas, Khaldia Lamazière, Antonin Winer, Norbert Joubert, Madeleine Bézieau, Stéphane Isidor, Bertrand Mercier, Sandra Nizon, Mathilde Leclerc-Mercier, Stéphanie Hadj-Rabia, Smail Dufernez, Fabienne Producer: 20190328 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)
	14.	Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. [electronic resource] by Nizon, Mathilde Cogne, Benjamin Vallat, Jean-Michel Joubert, Madeleine Liet, Jean-Michel Simon, Laure Vincent, Marie Küry, Sébastien Boisseau, Pierre Schmitt, Sébastien Mercier, Sandra Bénéteau, Claire Larrose, Catherine Coste, Marianne Latypova, Xénia Péréon, Yann Mussini, Jean-Marie Bézieau, Stéphane Isidor, Bertrand Producer: 20170726 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study. [electronic resource] by Viguier, Agnès Lauwers-Cances, Valérie Cintas, Pascal Manel, Véronique Peudenier, Sylviane Desguerre, Isabelle Quijano-Roy, Susana Vanhulle, Catherine Fradin, Mélanie Isapof, Arnaud Jokic, Michaël Mathieu-Dramard, Michèle Dieterich, Klaus Petit, Florence Magdelaine, Corinne Giuliano, Fabienne Gras, Domitille Haye, Damien Nizon, Mathilde Magen, Maryse Bieth, Eric Cances, Claude Producer: 20200429 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. [electronic resource] by Nizon, Mathilde Laugel, Vincent Flanigan, Kevin M Pastore, Matthew Waldrop, Megan A Rosenfeld, Jill A Marom, Ronit Xiao, Rui Gerard, Amanda Pichon, Olivier Le Caignec, Cédric Gérard, Marion Dieterich, Klaus Truitt Cho, Megan McWalter, Kirsty Hiatt, Susan Thompson, Michelle L Bézieau, Stéphane Wadley, Alexandrea Wierenga, Klaas J Egly, Jean-Marc Isidor, Bertrand Producer: 20200501 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)
	17.	Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. [electronic resource] by Nizon, Mathilde Laugel, Vincent Flanigan, Kevin M Pastore, Matthew Waldrop, Megan A Rosenfeld, Jill A Marom, Ronit Xiao, Rui Gerard, Amanda Pichon, Olivier Le Caignec, Cédric Gérard, Marion Dieterich, Klaus Truitt Cho, Megan McWalter, Kirsty Hiatt, Susan Thompson, Michelle L Bézieau, Stéphane Wadley, Alexandrea Wierenga, Klaas J Egly, Jean-Marc Isidor, Bertrand Publication details: Genetics in medicine : official journal of the American College of Medical Genetics 11 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)
	18.	Searching for secondary findings: considering actionability and preserving the right not to know. [electronic resource] by Isidor, Bertrand Julia, Sophie Saugier-Veber, Pascale Weil-Dubuc, Paul-Loup Bézieau, Stéphane Bieth, Eric Bonnefont, Jean-Paul Munnich, Arnold Bourdeaut, Franck Bourgain, Catherine Chassaing, Nicolas Corradini, Nadège Haye, Damien Plaisancie, Julie Dupin-Deguine, Delphine Calvas, Patrick Mignot, Cyril Cogné, Benjamin Manouvrier, Sylvie Pasquier, Laurent Héron, Delphine Boycott, Kym M Turrini, Mauro Vears, Danya F Nizon, Mathilde Vincent, Marie Producer: 20200616 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. [electronic resource] by Trimouille, Aurélien Houcinat, Nada Vuillaume, Marie-Laure Fergelot, Patricia Boucher, Cécile Toutain, Jérôme Caignec, Cédric Le Vincent, Marie Nizon, Mathilde Andrieux, Joris Vanlerberghe, Clémence Delobel, Bruno Duban, Bénédicte Mansour, Sahar Baple, Emma McKeown, Colina Poke, Gemma Robertshaw, Kate Fifield, Eve Fabretto, Antonella Pecile, Vanna Gasparini, Paolo Carrozzi, Marco Lacombe, Didier Arveiler, Benoît Rooryck, Caroline Moutton, Sébastien Producer: 20181211 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)
	20.	Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? [electronic resource] by Le Gall, Jessica Nizon, Mathilde Pichon, Olivier Andrieux, Joris Audebert-Bellanger, Séverine Baron, Sabine Beneteau, Claire Bilan, Frédéric Boute, Odile Busa, Tiffany Cormier-Daire, Valérie Ferec, Claude Fradin, Mélanie Gilbert-Dussardier, Brigitte Jaillard, Sylvie Jønch, Aia Martin-Coignard, Dominique Mercier, Sandra Moutton, Sébastien Rooryck, Caroline Schaefer, Elise Vincent, Marie Sanlaville, Damien Le Caignec, Cédric Jacquemont, Sébastien David, Albert Isidor, Bertrand Producer: 20171212 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 36 results.