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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.
Audiology Research|February 23, 2024
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative VariantsWilliam Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, et al.
American Journal of Medical Genetics. Part A|August 3, 2023
A 22q13.1 duplication in mosaicism including SOX10William Bertani-Torres, Margaux Serey-Gaut, Judite de Oliveira, et al.
Clinical Genetics|September 14, 2020
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?Aude Tessier, Lucile Boutaud, Ange-Line Bruel, et al.
Human Genetics|February 7, 2025
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variantsMargaux Serey-Gaut, Ralyath Balogoun, Laurence Jonard, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrumVéronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.
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