Human genetics - JoVE Visualize

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Human Genetics|December 18, 1998

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneityT Raz, T Barrett, R Szargel, et al.

Human Genetics|December 18, 1998

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type IbK Ihara, R Kuromaru, T Hara

Human Genetics|December 18, 1998

Screening with the FMR1 protein test among mentally retarded malesB B de Vries, S Mohkamsing, A M van den Ouweland, et al.

Human Genetics|December 22, 1998

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1N Rahman, F Abidi, D Ford, et al.

Human Genetics|December 22, 1998

Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndromeM Sakamoto, J Ono, S Okada, et al.

Human Genetics|December 22, 1998

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese familyW L Lee, A Tay, H T Ong, et al.

Human Genetics|October 9, 2009

An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese populationXing Gu, Peng Qi, Feiguo Zhou, et al.

Human Genetics|May 22, 2008

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3Karina Lezirovitz, Sylvia Regina Pedrosa Maestrelli, Nelson Henderson Cotrim, et al.

Human Genetics|February 4, 2025

Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2Arvind Srinivasan, Dorota Magner, Piotr Kozłowski, et al.

Human Genetics|January 27, 2025

An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significanceDinesh Joshi, Swatantra Pradhan, Rakshanda Sajeed, et al.

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Showing results (1441-1450 of 9,569) with videos related to

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Pageof 957

Human Genetics|December 18, 1998

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneityT Raz, T Barrett, R Szargel, et al.

Human Genetics|December 18, 1998

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type IbK Ihara, R Kuromaru, T Hara

Human Genetics|December 18, 1998

Screening with the FMR1 protein test among mentally retarded malesB B de Vries, S Mohkamsing, A M van den Ouweland, et al.

Human Genetics|December 22, 1998

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1N Rahman, F Abidi, D Ford, et al.

Human Genetics|December 22, 1998

Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndromeM Sakamoto, J Ono, S Okada, et al.

Human Genetics|December 22, 1998

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese familyW L Lee, A Tay, H T Ong, et al.

Human Genetics|October 9, 2009

An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese populationXing Gu, Peng Qi, Feiguo Zhou, et al.

Human Genetics|May 22, 2008

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3Karina Lezirovitz, Sylvia Regina Pedrosa Maestrelli, Nelson Henderson Cotrim, et al.

Human Genetics|February 4, 2025

Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2Arvind Srinivasan, Dorota Magner, Piotr Kozłowski, et al.

Human Genetics|January 27, 2025

An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significanceDinesh Joshi, Swatantra Pradhan, Rakshanda Sajeed, et al.

Pageof 957