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Clinical Genetics|March 8, 2008
Three novel mutations in the PORCN gene underlying focal dermal hypoplasiaP Leoyklang, K Suphapeetiporn, S Wananukul, et al.Clinical Genetics|March 1, 1982
Degradation of keratan sulfate by beta-N-acetylhexosaminidases in GM2-gangliosidosisT Yutaka, S Okada, T Kato, et al.Clinical Genetics|March 22, 2001
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocationJ Seidel, S Schiller, C Kelbova, et al.Clinical Genetics|July 1, 1992
A fragile X family with high penetrance in females: risk heterogeneity?F Martínez, L Badía, F PrietoClinical Genetics|July 1, 1991
An apparently new mental retardation syndrome in three elderly sistersD L Viljoen, J Kallis, S Voges, et al.Clinical Genetics|July 1, 1981
An Indian family with postaxial polydactyly in four generationsK Kucheria, R K Kenue, N TanejaClinical Genetics|December 12, 2025
A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus SyndromeFiliz Ozen, Diyar Sayit, Zeynep YeginClinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.Clinical Genetics|March 30, 2026
Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental AbnormalitiesEugénie Koumakis, Céline Huber, Wendy Chung, et al.Clinical Genetics|May 15, 2026
Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary MicrocephalyBeyhan Tüysüz, Ahmet Okay Çağlayan, Büşra Kasap, et al.Pageof 719