Recherche
Résultats 1-10 de 10
-
Biallelic variants in gle1 with survival beyond neonatal period
Clinical Genetics, 20-09-2020, 98 (6), 622-625Article dans une revue scientifique -
Phenotypic spectrum of tgfb3 disease-causing variants in a dutch-french cohort and first report of a homozygous patient
Clinical Genetics, 02-01-2020Article dans une revue scientifique -
Further delineation of the female phenotype with kdm5c disease causing variants: 19 new individuals and review of the literature
Clinical Genetics, 29-05-2020, 98Article dans une revue scientifique -
Wiedemann-steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 french cases
Clinical Genetics, 25-03-2018Article dans une revue scientifique -
Genetics of patella hypoplasia/agenesis
Clinical Genetics, 11-01-2018Article dans une revue scientifique -
Bardet-biedl syndrome - tantenatal presentation of 45 fetuses with biallelic pathogenic variants in known bbs genes
Clinical Genetics, 07-01-2019Article dans une revue scientifique -
Smith-magenis syndrome (sms): clinical and behavioral characteristics in a large retrospective cohort
Clinical Genetics, 27-12-2020Article dans une revue scientifique -
De novo missense variants in the rap1b gene identified in two patients with syndromic thrombocytopenia
Clinical Genetics, 06-07-2020Article dans une revue scientifique -
Pycnodysostosis: natural history and management guidelines from 27 french cases and a literature review
Clinical Genetics, 25-06-2019Article dans une revue scientifique -
Clinical and neuroimaging findings in 33 patients with mcap syndrome: a survey to evaluate relevant endpoints for future clinical trials
Clinical Genetics, 07-01-2021Article dans une revue scientifique