Showing results (241-250 of 335) with videos related to

Sort By:
Pageof 34
Case Reports in Genetics|January 6, 2025
A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy CaseJose G Acuña-Ochoa, Norma A Balderrábano-Saucedo, Ana C Cepeda-Nieto, et al.
Case Reports in Genetics|November 29, 2023
A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH LevelsKousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, et al.
Case Reports in Genetics|January 11, 2024
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental DisorderDaniel Arbide, Nour Elkhateeb, Ewa Goljan, et al.
Case Reports in Genetics|September 12, 2024
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North IndiaInusha Panigrahi, Sudha Rao, Shalu Verma Kumar, et al.
Case Reports in Genetics|October 25, 2023
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and DyskinesiaLuna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, et al.
Case Reports in Genetics|September 6, 2023
Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of IranHossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, et al.
Case Reports in Genetics|April 27, 2026
Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case ReportEsther Levy, Leighton Elliott, Michal A Miller, et al.
Case Reports in Genetics|June 8, 2026
A Case of Pallister-Killian Syndrome in a NewbornGiulia Di Donato, Chiara Cauzzo, Paola Cicioni, et al.
Case Reports in Genetics|June 8, 2026
A Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki SyndromeRameshwar Prasad, Sudipta Sahoo, Richie Dalai, et al.
Case Reports in Genetics|September 9, 2022
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and PyridoxineJiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, et al.
Pageof 34