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Nature Medicine|February 3, 2007
Targeted disruption of AdipoR1 and AdipoR2 causes abrogation of adiponectin binding and metabolic actionsToshimasa Yamauchi, Yasunori Nio, Toshiyuki Maki, et al.
Nature Genetics|January 31, 2012
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetesAmélie Bonnefond, Nathalie Clément, Katherine Fawcett, et al.
The Journal of Clinical Investigation|June 23, 2025
Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndromeSadia Saeed, Anna-Maria Siegert, Y C Loraine Tung, et al.
The Journal of Clinical Investigation|June 20, 2013
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresAmélie Bonnefond, Anne Raimondo, Fanny Stutzmann, et al.
Nature Genetics|May 29, 2007
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunityManuela Fanciulli, Penny J Norsworthy, Enrico Petretto, et al.
Human Molecular Genetics|April 21, 2009
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjectsHélène Choquet, Christine Cavalcanti-Proença, Cécile Lecoeur, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2021
Gain of Function of Malate Dehydrogenase 2 and Familial HyperglycemiaPrapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, et al.
Diabetes|April 21, 2023
Biallelic Mutations in P4HTM Cause Syndromic ObesitySadia Saeed, Lijiao Ning, Alaa Badreddine, et al.
Journal of Acquired Immune Deficiency Syndromes (1999)|November 26, 2010
Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDSSigrid Le Clerc, Cédric Coulonges, Olivier Delaneau, et al.
Cell Metabolism|February 7, 2006
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balanceYung Seng Lee, Ben G Challis, Darren A Thompson, et al.
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