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Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, 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.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
Journal of Medical Genetics|October 4, 2002
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL Van Maldergem, J Magré, T E Khallouf, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|June 12, 2016
Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in FranceA de Rougemont, J Kaplon, C Fremy, et al.
Journal of Medical Genetics|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Nature Genetics|August 2, 2001
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magré, M Delépine, E Khallouf, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
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