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American Journal of Human Genetics|July 30, 2019
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain AnomaliesAlexej Knaus, Fanny Kortüm, Tjitske Kleefstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2023
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published familiesAnnika Gottschalk, Henrike L Sczakiel, Wiebke Hülsemann, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndromeDenise Horn, Magdalena Chyrek, Saskia Kleier, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.
American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2021
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactylyDenise Horn, Elisa Fernández-Núñez, Ricardo Gomez-Carmona, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
FOXP1 mutations cause intellectual disability and a recognizable phenotypeAnna K Le Fevre, Sharelle Taylor, Neva H Malek, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
European Journal of Human Genetics : EJHG|June 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderKazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, et al.
Human Genetics|May 10, 2022
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4Heidemarie Neitzel, Raymonda Varon, Sana Chughtai, et al.
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