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Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.Diabetes, Obesity & Metabolism|March 22, 2023
Clinical features of generalized lipodystrophy in Turkey: A cohort analysisIlgin Yildirim Simsir, Beyhan Tuysuz, Mehmet Nuri Ozbek, et al.Nature|January 1, 2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephalyCe Zhang, Dan Liang, A Gulhan Ercan-Sencicek, et al.Journal of Medical Genetics|March 26, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosisUmut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, et al.Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.The Journal of Clinical Investigation|January 10, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypesBo Yuan, Davut Pehlivan, Ender Karaca, et al.American Journal of Medical Genetics. Part A|January 18, 2024
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4Gulcin Akinci, Saif Alyaarubi, Nivedita Patni, et al.American Journal of Human Genetics|June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceDavut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.Pageof 5