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Molecular Genetics and Metabolism|February 8, 2012
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsErich Roessler, Jorge I Vélez, Nan Zhou, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 6, 2020
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specificCedrik Tekendo-Ngongang, Babajide Owosela, Maximilian Muenke, et al.American Journal of Medical Genetics. Part A|February 23, 2024
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature reviewBalram Gangaram, Virgina Lee, Anne SlavotinekPlos One|April 25, 2019
Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafishMax Krall, Stephanie Htun, Anne SlavotinekClinical Case Reports|June 22, 2026
Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic AstrocytomaMegan Glassford, Caroline Jennings, Anne SlavotinekAmerican Journal of Medical Genetics. Part A|March 26, 2022
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical traineesJirat Chenbhanich, Anne Slavotinek, Allison TamMolecular Genetics & Genomic Medicine|February 21, 2019
An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countriesManjit Kaur, Donald W Hadley, Maximilian Muenke, et al.Clinical Genetics|July 9, 2019
Novel heterozygous variants in KMT2D associated with holoprosencephalyCedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, et al.Human Molecular Genetics|March 28, 2018
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephalySungkook Hong, Ping Hu, Erich Roessler, et al.European Journal of Medical Genetics|April 10, 2022
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature reviewBalram Gangaram, W Patrick Devine, Anne SlavotinekPageof 42