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Clinical Parkinsonism & Related Disorders|January 19, 2026
Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndromeArnaud Storck, Marie Thérèse Abiwarde, Gaelle Hardy, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 30, 2008
The genetic ablation of SRC-3 protects against obesity and improves insulin sensitivity by reducing the acetylation of PGC-1{alpha}Agnès Coste, Jean-Francois Louet, Marie Lagouge, et al.
Plos One|January 26, 2018
Quantitative and qualitative normative dataset for intraepidermal nerve fibers using skin biopsyNicolas Collongues, Brigitte Samama, Catherine Schmidt-Mutter, et al.
Plos One|September 22, 2010
Loss of STOP protein impairs peripheral olfactory neurogenesisKarelle Benardais, Basem Kasem, Alice Couegnas, et al.
American Journal of Medical Genetics. Part A|September 14, 2016
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literatureLaura Mary, Sophie Scheidecker, Monique Kohler, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 3, 2007
LRH-1-mediated glucocorticoid synthesis in enterocytes protects against inflammatory bowel diseaseAgnes Coste, Laurent Dubuquoy, Romain Barnouin, et al.
Annals of Transplantation|April 1, 2017
Senescence of Pancreas in Middle-Aged Rats with Normal Vascular FunctionMohamad Kassem, Zahid Rasul Niazi, Malak Abbas, et al.
The Journal of Investigative Dermatology|February 16, 2007
Malignant transformation of DMBA/TPA-induced papillomas and nevi in the skin of mice selectively lacking retinoid-X-receptor alpha in epidermal keratinocytesArup Kumar Indra, Eduardo Castaneda, Maria Cristina Antal, et al.
American Journal of Physiology. Endocrinology and Metabolism|April 7, 2016
SERMs have substance-specific effects on bone, and these effects are mediated via ERαAF-1 in female miceAnna E Börjesson, Helen H Farman, Sofia Movérare-Skrtic, et al.
European Journal of Medical Genetics|January 25, 2020
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrumBenjamin Durand, Corinne Stoetzel, Elise Schaefer, et al.
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