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Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, et al.Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.American Journal of Medical Genetics. Part A|July 3, 2003
Perinatal-lethal Gaucher diseaseC Mignot, A Gelot, B Bessières, et al.Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.Neurology|September 23, 2009
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsS Passemard, L Titomanlio, M Elmaleh, et al.Prenatal Diagnosis|November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?F Coron, T Rousseau, G Jondeau, et al.Pageof 11