Showing results (811-820 of 3,504) with videos related to
Sort By:
Pageof 351
Journal of Human Genetics|June 12, 2024
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxiaZe-Hong Zheng, Chun-Yan Cao, Bi Cheng, et al.Journal of Human Genetics|May 7, 2024
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohortsNicolás Garzón Rodríguez, Ignacio Briceño-Balcázar, Humberto Nicolini, et al.Journal of Human Genetics|January 22, 2026
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotypeMohamed S Abdel-Hamid, Ghada M H Abdel-SalamJournal of Human Genetics|January 23, 2026
Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysisAaqib Zaffar Banday, Ishaq Malik, Anit Kaur, et al.Journal of Human Genetics|November 22, 2025
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizuresAyumi Matsumoto, Go Kasuya, Suvd Tumurbaatar, et al.Journal of Human Genetics|December 22, 2024
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patientSiqing Ma, Chunbo Ji, Jinlan Li, et al.Journal of Human Genetics|December 18, 2024
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findingsKiana Magee, William McGonigle, Rena Pressman, et al.Journal of Human Genetics|February 3, 2025
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa typeKaitao Ren, Niloofar Pirmarzdashti, Farzad Pakdel, et al.Journal of Human Genetics|December 9, 2024
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylationQuanquan Wang, Guangyu Wang, Bing Liang, et al.Journal of Human Genetics|December 22, 2023
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese populationLi Shan Chen, Cheng Wei Yu, Wei Jiun Li, et al.Pageof 351