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European Journal of Medical Genetics|December 3, 2014
21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disordersFlorence Petit, Ghislaine Plessis, Matthieu Decamp, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin systemViolette Mesdag, Joris Andrieux, Capucine Coulon, et al.
BMC Medical Genetics|June 16, 2019
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literatureChamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, et al.
Journal of Medical Genetics|October 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndromeFlorence Petit, Louise Devisme, Dimitri Tchernitchko, et al.
Plos One|July 28, 2018
GnRH regulates the expression of its receptor accessory protein SET in pituitary gonadotropesCharlotte Avet, Chantal Denoyelle, David L'Hôte, et al.
European Journal of Medical Genetics|July 26, 2011
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic herniaFlorence Petit, Joris Andrieux, Muriel Holder-Espinasse, et al.
Clinical Genetics|June 21, 2026
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the LiteratureWafaa Alharbi, Abdul A Peer-Zada, Abeer S Alaqidi, et al.
Fertility and Sterility|January 9, 2010
Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriageAurore Perrin, Bruno Delobel, Joris Andrieux, et al.
American Journal of Medical Genetics. Part A|March 27, 2024
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG geneJulie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, et al.
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