Browse Items (7 total)
- Tags: mutations
Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma
An overview of rickets in children
Tags: 2020, animal-model, August 2020 List, Chanchlani R, Chronic kidney disease, d-receptor, d-resistant rickets, Department of Anatomy & Neurobiology, Department of Internal Medicine, hereditary hypophosphatemic rickets, hypocalcemia, hypophosphatemia, journalArticle, Kidney International Reports, Krishnappa V, mutations, Nemer L, Nemer P, NEOMED College of Medicine, NEOMED College of Medicine Student, phosphate, phosphorus, Prevention, Raina R, Safadi F, Sinha R, Sochett E, targeted ablation, Vitamin D, vitamin-d-deficiency, x-linked hypophosphatemia
Variable Penetrance And Expressivity Of The Splice Altering 5t Sequence In The Cystic Fibrosis Gene
Pili Torti: Clinical Findings, Associated Disorders, and New Insights Into Mechanisms of Hair Twisting
Transcriptional activation of the cholesterol 7 alpha-hydroxylase gene (CYP7A) by nuclear hormone receptors
Tags: 1998, alpha-hydroxylase, bile acid response element, Bile acid synthesis, Biochemistry & Molecular Biology, Chiang J Y L, cholesterol 7, Crestani M, cytochrome P450, elements, expression, factor coup-tf, Galli G, gene transcription and regulation, hormone receptor, Journal Article or Conference Abstract Publication, Journal of lipid research, Liver, messenger-rna, Metabolism, mutations, nuclear, promoter, rat, retinoic acid receptors, Sadeghpour A, Stroup D
Reduced Paneth cell alpha-defensins in ileal Crohn's disease
Tags: 2005, Bacteria, Bevins C L, Chu H T, expression, Feathers R W, Fellermann K, Ganz T, gene, human intestinal defensin, inflammatory bowel disease, Innate, Innate immunity, Intestine, Journal Article, Lima H, Linzmeier R, mechanisms, microflora, mutations, Nuding S, Peptides, Petras R E, Porter E, Proceedings of the National Academy of Sciences of the United States of America, Salzman N H, Schaeffeler E, Schwab M, Science & Technology - Other Topics, Shen B, Stange E F, Wehkamp J, Weichenthal M
Overview of Monogenic or Mendelian Forms of Hypertension
Tags: 2019, aldosteronism, Amin Harshesh, apparent mineralocorticoid excess, congenital adrenal hyperplasia, Das Abhijit, Department of Internal Medicine, Disease, familial, familial hyperaldosteronism, features, Frontiers in pediatrics, Genes, Gordon syndrome, hyperaldosteronism, Krishnappa Vinod, Kusumi Kirsten, Liddle syndrome, mineralocorticoid excess, monogenic hypertension, mutations, Nair Nikhil R, NEOMED College of Graduate Studies Student, NEOMED College of Medicine, NEOMED College of Medicine Student, NEOMED Student Publications, Pediatrics, Prevalence, Radhakrishnan Yeshwanter, Raina Rupesh, September 2019 Update, stroke, update