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Journal of Human Genetics|August 8, 2020
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levelsJenna C Carlson, Daniel E Weeks, Nicola L Hawley, et al.Journal of Human Genetics|August 8, 2020
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicinHamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A Al-Hussaini, et al.Journal of Human Genetics|August 12, 2020
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent claviclesEsra Yıldız Bölükbaşı, Rana Muhammad Kamran Shabbir, Sajid Malik, et al.Journal of Human Genetics|August 2, 2020
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphismQandeel Zahra, Çağla Çakmak, Mine Koprulu, et al.Journal of Human Genetics|July 14, 2020
ALG3-CDG: lethal phenotype and novel variants in Chinese siblingsYue Bian, Chong Qiao, ShuGuang Zheng, et al.Journal of Human Genetics|July 14, 2020
Two novel TCTN2 mutations cause Meckel-Gruber syndromeManli Zhang, Zhijie Chang, Yaping Tian, et al.Journal of Human Genetics|August 10, 2020
Polygenic risk score as clinical utility in psychiatry: a clinical viewpointMasashi Ikeda, Takeo Saito, Tetsufumi Kanazawa, et al.Journal of Human Genetics|August 11, 2020
Personalized medicine for cardiovascular diseasesHayato Tada, Noboru Fujino, Akihiro Nomura, et al.Journal of Human Genetics|April 3, 2015
Genetic and linguistic correlation of the Kra-Dai-speaking groups in ThailandSuparat Srithawong, Metawee Srikummool, Pittayawat Pittayaporn, et al.Journal of Human Genetics|April 3, 2023
Hematologic traits and primary biliary cholangitis: a Mendelian randomization studyBin Ke, Chunyu Li, Huifang ShangPageof 351