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Abnormality of T cell physiology
- Usher Syndrome (Genetic and Rare Diseases Information Center)Find symptoms and other information about Usher syndrome. ... Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National ...
- ... The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys ...
- ... in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda). 2005 Oct;20:292-302. doi: 10. ... Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best ...
- Talking Glossary of Genetic Terms (National Human Genome Research Institute)Genetic Testing/Reference Desk ... Genetic Testing ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene ...
- Definitions of Digestive Terms (International Foundation for Gastrointestinal Disorders)Digestive Diseases/Reference Desk ... Digestive Diseases ... Stomach Disorders/Reference Desk ... Stomach Disorders ... International Foundation for Gastrointestinal Disorders
- ... the role of HNF-1beta in kidney (patho)physiology. Pediatr Nephrol. 2019 Aug;34(8):1325-1335. ...
- ... transcription factor FOXL2: at the crossroads of ovarian physiology and pathology. Mol Cell Endocrinol. 2012 Jun 5; ... A, Khattra J, Turashvili G, Zhao Y, Zeng T, Glover JN, Vanderhyden B, Zhao C, ... Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med. ...
- ... of fuel and energy status in skeletal muscle. Physiology (Bethesda). 2006 Feb;21:48-60. doi: 10. ... E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D. A ... and disease pathogenesis. J Mol Cell Cardiol. 2003 Oct;35(10):1251-5. doi: ...
- ... KCNQ1 potassium channel: from gene to physiological function. Physiology (Bethesda). 2005 Dec;20:408-16. doi: 10. ... of HERG and KCNQ1 channel gating. J Mol Cell Cardiol. 2003 Jan;35(1):27-35. doi: ... Zareba W, Knilans T, Bowles NE, Towbin JA. Compound heterozygous mutations in ...
- ... The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy. Can J Cardiol. 2015 Nov;31( ...