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Genes|December 23, 2022
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype CorrelationsCarla Lintas, Irene Bottillo, Roberto Sacco, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|August 20, 2013
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutationFrancesco Nicita, Isabella Torrente, Alberto Spalice, et al.American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.BMC Medical Genetics|September 22, 2018
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case reportRuixiao Zhang, Jianhong Wang, Qing Wang, et al.Clinical Genetics|December 28, 2025
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic CardiomyopathyMaria Pia Ciccone, Filippo Maria Panfili, Francesca Bacigalupo, et al.American Journal of Medical Genetics. Part A|May 27, 2010
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletionIrene Bottillo, Isabella Torrente, Valentina Lanari, et al.American Journal of Nephrology|September 5, 2015
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3Xinsheng Wang, Xiangzhong Zhao, Xiaoling Wang, et al.Molecular Syndromology|October 23, 2014
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 MutationMarco Castori, Irene Bottillo, Daniela D'Angelantonio, et al.Human Mutation|April 14, 2025
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis ComplexQingqing You, Jingwei Liu, Ran Zhang, et al.Endocrine|February 22, 2019
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type IYue Han, Xiangzhong Zhao, Sai Wang, et al.Pageof 7