Showing results (31-40 of 335) with videos related to
Sort By:
Pageof 34
Case Reports in Genetics|February 22, 2020
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, et al.Case Reports in Genetics|February 28, 2015
Exceptional complex chromosomal rearrangements in three generationsHannie Kartapradja, Nanis Sacharina Marzuki, Mark D Pertile, et al.Case Reports in Genetics|April 17, 2015
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP MutationNivedita U Jerath, Cameron D Crockett, Steven A Moore, et al.Case Reports in Genetics|March 20, 2015
Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 geneTeva Brender, Donna Wallerstein, John Sum, et al.Case Reports in Genetics|September 23, 2022
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene DeletionDinusha Pandithan, Sonja Klebe, Grace McKavanagh, et al.Case Reports in Genetics|October 10, 2022
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer SyndromeRafat Mosalli, Alfia Fatma, Mohammed A Almatrafi, et al.Case Reports in Genetics|October 10, 2022
Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare CaseHossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, et al.Case Reports in Genetics|December 5, 2018
11p15.4 Microdeletion Associates with HemihypertrophySurasak Puvabanditsin, Mehrin Sadiq, Marianne Jacob, et al.Case Reports in Genetics|February 8, 2019
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular TachycardiaTaishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, et al.Case Reports in Genetics|September 10, 2020
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular DystrophyXiafei Dai, Rong Luo, Yang Chen, et al.Pageof 34