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Showing results (151-160 of 159) with videos related to

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American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.
American Journal of Human Genetics|March 5, 2016
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyTamar Harel, Gozde Yesil, Yavuz Bayram, et al.
American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.
The Journal of Clinical Investigation|December 13, 2016
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndromeLisa C Burnett, Charles A LeDuc, Carlos R Sulsona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Cell Metabolism|May 5, 2021
Obesity-associated hyperleptinemia alters the gliovascular interface of the hypothalamus to promote hypertensionTim Gruber, Chenchen Pan, Raian E Contreras, et al.
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
Diabetes|September 12, 2020
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early AdiposityHanieh Yaghootkar, Yiying Zhang, Cassandra N Spracklen, et al.
Nature Communications|February 3, 2016
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levelsTuomas O Kilpeläinen, Jayne F Martin Carli, Alicja A Skowronski, et al.
Pageof 16

Showing results (151-160 of 159) with videos related to

Sort By:
Pageof 16
You have reached the last page of results.This site can display upto 159 results.
American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.
American Journal of Human Genetics|March 5, 2016
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyTamar Harel, Gozde Yesil, Yavuz Bayram, et al.
American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.
The Journal of Clinical Investigation|December 13, 2016
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndromeLisa C Burnett, Charles A LeDuc, Carlos R Sulsona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Cell Metabolism|May 5, 2021
Obesity-associated hyperleptinemia alters the gliovascular interface of the hypothalamus to promote hypertensionTim Gruber, Chenchen Pan, Raian E Contreras, et al.
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
Diabetes|September 12, 2020
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early AdiposityHanieh Yaghootkar, Yiying Zhang, Cassandra N Spracklen, et al.
Nature Communications|February 3, 2016
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levelsTuomas O Kilpeläinen, Jayne F Martin Carli, Alicja A Skowronski, et al.
Pageof 16