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Journal of Human Genetics|May 23, 2018
Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patientsParaskevi Apostolou, Florentia Fostira, Vasiliki Mollaki, et al.Journal of Human Genetics|April 5, 2018
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation typeKaori Irahara-Miyana, Takanobu Otomo, Hidehito Kondo, et al.Journal of Human Genetics|May 16, 2018
LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cellsYuichi Kawamura, Akiko Suga, Takuro Fujimaki, et al.Journal of Human Genetics|May 19, 2018
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in KoreaDahye Kim, Jung Min Ko, Yoon-Myung Kim, et al.Journal of Human Genetics|January 16, 2010
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 regionLaura M F Costrop, Olivier O M Vanakker, Lut Van Laer, et al.Journal of Human Genetics|September 2, 2016
Genetic diversity of two Neolithic populations provides evidence of farming expansions in North ChinaYe Zhang, Jiawei Li, Yongbin Zhao, et al.Journal of Human Genetics|July 7, 2017
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in JapanKazuhiro Kobayashi, Reiko Kato, Eri Kondo-Iida, et al.Journal of Human Genetics|September 9, 2016
Effect of migration patterns on maternal genetic structure: a case of Tai-Kadai migration from China to ThailandJatupol Kampuansai, Wibhu Kutanan, Francesca Tassi, et al.Journal of Human Genetics|August 26, 2016
The microRNA signatures: aberrantly expressed microRNAs in head and neck squamous cell carcinomaKeiichi Koshizuka, Toyoyuki Hanazawa, Ichiro Fukumoto, et al.Journal of Human Genetics|June 1, 2018
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndromeNatsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, et al.Pageof 352