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Prenatal Diagnosis|June 19, 2026
Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?A Gibbs, R Braham, V Ramachandran, et al.Clinical Genetics|September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major causeF Petit, F Escande, A S Jourdain, et al.Clinical Genetics|April 27, 2011
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary ciliaV Bennouna-Greene, S Kremer, C Stoetzel, et al.Clinical Genetics|June 25, 2013
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new familiesF Petit, A-S Jourdain, J Andrieux, et al.Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.Pageof 2