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Neuromuscular Disorders : NMD|April 17, 2007
Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?Nathalie Angeard, Marcela Gargiulo, Aurélia Jacquette, et al.
Clinical Dysmorphology|September 30, 2011
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritanceStéphanie Arpin, Alexandra Afenjar, Béatrice Dubern, et al.
Cancer Research|April 19, 2007
Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARFEric Pasmant, Ingrid Laurendeau, Delphine Héron, et al.
Neuromuscular Disorders : NMD|May 20, 2011
A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1)Nathalie Angeard, Aurélia Jacquette, Marcela Gargiulo, et al.
Prenatal Diagnosis|September 24, 2004
Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first casePhilippe Charron, Delphine Héron, Marcela Gargiulo, et al.
Plos One|January 27, 2017
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell NucleusAlice Barateau, Nathalie Vadrot, Patrick Vicart, et al.
European Child & Adolescent Psychiatry|June 23, 2009
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophyMarie Douniol, Aurélia Jacquette, Jean-Marc Guilé, et al.
Brain & Development|May 1, 2012
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosumCyril Mignot, Delphine Héron, Joseph Bursztyn, et al.
European Journal of Human Genetics : EJHG|June 16, 2016
Prenatal testing in Huntington disease: after the test, choices recommenceHanane Bouchghoul, Stéphane-Françoise Clément, Danièle Vauthier, et al.
Annales D'Endocrinologie|May 3, 2024
Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservationTiphaine Le Poulennec, Sophie Dubreuil, Michael Grynberg, et al.
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