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Journal of Human Genetics|October 14, 2016
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutationMaria Rossing, Anders Albrechtsen, Anne-Bine Skytte, et al.Journal of Human Genetics|March 22, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South SpainMaría A Bueno, Domingo González-Lamuño, Carmen Delgado-Pecellín, et al.Journal of Human Genetics|September 26, 2014
The influence of admixture and consanguinity on population genetic diversity in Middle EastXiong Yang, Suzanne Al-Bustan, Qidi Feng, et al.Journal of Human Genetics|October 3, 2014
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathyJacopo Azzollini, Davide Rovina, Cristina Gervasini, et al.Journal of Human Genetics|September 19, 2014
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentationToshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, et al.Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.Journal of Human Genetics|August 1, 2014
Isolation, contact and social behavior shaped genetic diversity in West TimorMeryanne K Tumonggor, Tatiana M Karafet, Sean Downey, et al.Journal of Human Genetics|August 1, 2014
Geography has more influence than language on maternal genetic structure of various northeastern Thai ethnicitiesWibhu Kutanan, Silvia Ghirotto, Giorgio Bertorelle, et al.Journal of Human Genetics|November 22, 2013
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type IIIJae Sung Ko, Jin Soo Moon, Jeong Kee Seo, et al.Journal of Human Genetics|July 25, 2014
Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian childrenNeeraj Sharma, Indu Jaiswal, Raju K Mandal, et al.Pageof 352