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Human Genetics|March 1, 2015
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesNuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, et al.Orphanet Journal of Rare Diseases|June 26, 2023
Real-world evidence in achondroplasia: considerations for a standardized data setYasemin Alanay, Klaus Mohnike, Ola Nilsson, et al.American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.Annals of Clinical and Translational Neurology|May 14, 2025
HPDL Variant Type Correlates With Clinical Disease Onset and SeverityEun Hye Lee, Olivia Kim-Mcmanus, Jennifer H Yang, et al.American Journal of Medical Genetics. Part A|January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disordersLorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.Frontiers in Pediatrics|July 19, 2024
Rapid genome sequencing for critically ill infants: an inaugural pilot study from TurkeyBengisu Guner Yilmaz, Ozlem Akgun-Dogan, Ozkan Ozdemir, et al.Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.Pageof 15