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Clinical Genetics|July 2, 2021
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndromeLeïla Ghesh, Marie Denis Musquer, Louise Devisme, et al.European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.Nature Genetics|August 24, 2005
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesisOlivier Gribouval, Marie Gonzales, Thomas Neuhaus, et al.Prenatal Diagnosis|June 15, 2016
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy casesHélène Duval, Laurence Michel-Calemard, Marie Gonzales, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.Journal of the American Society of Nephrology : JASN|June 23, 2006
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin systemMireille Lacoste, Yi Cai, Liliane Guicharnaud, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.American Journal of Human Genetics|January 25, 2005
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndromeHouda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, et al.Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.Pageof 4