Showing results (171-180 of 3,503) with videos related to
Sort By:
Pageof 351
Journal of Human Genetics|April 15, 2016
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1Mi-Ae Jang, Young-Eun Kim, Sun Kyung Kim, et al.Journal of Human Genetics|August 21, 2015
The genomic landscape of human immune-mediated diseasesXin Wu, Haiyan Chen, Huji XuJournal of Human Genetics|May 30, 2019
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in JapanHiroyuki Mishima, Hisato Suzuki, Michiko Doi, et al.Journal of Human Genetics|May 11, 2019
IRAK2 and TLR10 confer risk of Hashimoto's disease: a genetic association study based on the Han Chinese populationMiao Li, Wei Han, Li Zhu, et al.Journal of Human Genetics|May 16, 2019
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiersGiulia Pascolini, Nicole Fleischer, Alessandro Ferraris, et al.Journal of Human Genetics|May 16, 2019
MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndromeTadashi Shiohama, Katsunori Fujii, Toshiyuki Miyashita, et al.Journal of Human Genetics|May 9, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande, et al.Journal of Human Genetics|July 4, 2018
Periodic breathing in patients with NALCN mutationsDanielle K Bourque, David A Dyment, Ian MacLusky, et al.Journal of Human Genetics|July 21, 2018
Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese populationLulin Huang, Xiongze Zhang, Pancy O S Tam, et al.Journal of Human Genetics|October 8, 2021
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 geneSunita Bijarnia-Mahay, Puneeth H Somashekar, Parneet Kaur, et al.Pageof 351