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Journal of Human Genetics|January 31, 2021
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermiaShoaib Nawaz, Muhammad Imran Ullah, Beenish Samreen Hamid, et al.Journal of Human Genetics|February 2, 2021
A Nepalese family with an REEP2 mutation: clinical and genetic studyHaitian Nan, Ryusuke Takaki, Takanori Hata, et al.Journal of Human Genetics|January 27, 2021
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 diseaseMonis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, et al.Journal of Human Genetics|January 29, 2021
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48Maxat Zhabagin, Zhaxylyk Sabitov, Inkar Tazhigulova, et al.Journal of Human Genetics|January 5, 2022
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in JapanMasayuki Sekine, Takayuki Enomoto, Masami Arai, et al.Journal of Human Genetics|March 21, 2021
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathyAya Inoue-Shibui, Tetsuya Niihori, Michio Kobayashi, et al.Journal of Human Genetics|March 23, 2012
Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomesHua-Wei Wang, Yu-Chun Li, Fei Sun, et al.Journal of Human Genetics|March 23, 2012
Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han ChineseFeng Lu, Yun Qian, Huizhang Li, et al.Journal of Human Genetics|March 4, 2011
Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastomaMidori Fujii, Kazuma Noguchi, Masahiro Urade, et al.Journal of Human Genetics|April 8, 2011
Common variants on 14q32 and 13q12 are associated with DLBCL susceptibilityVinod Kumar, Keitaro Matsuo, Atsushi Takahashi, et al.Pageof 351