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G Biesecker

Showing results (361-370 of 475) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|January 7, 2011
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistancePenelope P Feuillan, David Ng, Joan C Han, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2017
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy numberJonathan J Lyons, Stephanie C Stotz, Jack Chovanec, et al.
Cell|March 23, 2019
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersKym M Boycott, Taila Hartley, Leslie G Biesecker, et al.
Infection and Immunity|October 3, 2012
Microbial amyloids induce interleukin 17A (IL-17A) and IL-22 responses via Toll-like receptor 2 activation in the intestinal mucosaJessalyn H Nishimori, Tiffanny N Newman, Gertrude O Oppong, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Human Genetics|July 11, 2002
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patientsA M Slavotinek, C Searby, L Al-Gazali, et al.
Frontiers in Immunology|April 16, 2020
<i>TREML4</i> Promotes Inflammatory Programs in Human and Murine Macrophages and Alters Atherosclerosis Lesion Composition in the Apolipoprotein E Deficient MouseMarieli Gonzalez-Cotto, Liang Guo, Megan Karwan, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2021
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)Lora J H Bean, Maren T Scheuner, Michael F Murray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Pageof 48

Showing results (361-370 of 475) with videos related to

Sort By:
Pageof 48
The Journal of Clinical Endocrinology and Metabolism|January 7, 2011
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistancePenelope P Feuillan, David Ng, Joan C Han, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2017
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy numberJonathan J Lyons, Stephanie C Stotz, Jack Chovanec, et al.
Cell|March 23, 2019
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersKym M Boycott, Taila Hartley, Leslie G Biesecker, et al.
Infection and Immunity|October 3, 2012
Microbial amyloids induce interleukin 17A (IL-17A) and IL-22 responses via Toll-like receptor 2 activation in the intestinal mucosaJessalyn H Nishimori, Tiffanny N Newman, Gertrude O Oppong, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Human Genetics|July 11, 2002
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patientsA M Slavotinek, C Searby, L Al-Gazali, et al.
Frontiers in Immunology|April 16, 2020
<i>TREML4</i> Promotes Inflammatory Programs in Human and Murine Macrophages and Alters Atherosclerosis Lesion Composition in the Apolipoprotein E Deficient MouseMarieli Gonzalez-Cotto, Liang Guo, Megan Karwan, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2021
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)Lora J H Bean, Maren T Scheuner, Michael F Murray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Pageof 48