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BMC MEDICAL GENETICS, ISSN 1471-2350, 08/2019, Volume 20, Issue 1, pp. 145 - 7
Background Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses... 
EPIDERMAL DIFFERENTIATION | Mal de Meleda | Palmoplantar keratoderma | SLURP1 | Variant | GENE-ENCODING SLURP-1 | Exome sequencing | GENETICS & HEREDITY | DSG1 | DESMOGLEIN-1 | Mutation | MUTATIONS | MELEDA | Genodermatosis | Ethics | Consent | Genes | Desmoglein 1 | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2018, Volume 14, Issue 8, p. e1007504
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2017, Volume 13, Issue 1, p. e1006470
Journal Article
02/2008
Objective : The present study was undertaken to evaluate the aqueous extract of K. pinnata for its protective effects on gentamicin-induced nephrotoxicity in... 
nephrotoxicity | gentamicin | Bryophyllum pinnata | Antioxidant
Web Resource
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 657 - 662
The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in... 
DIAGNOSIS | PROTEIN | MIDBODY | BIOCHEMISTRY & MOLECULAR BIOLOGY | NONSENSE MUTATION | GENETICS & HEREDITY | Dysplasia | Embryogenesis | Cytokinesis | Hydranencephaly | Cell cycle | Potter sequence | Meckel-like | hydranencephaly | renal dysplasia | CEP55 | Meckel syndrome | whole exome sequencing
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 3137 - 3146
Journal Article
Journal Article
EYE, ISSN 0950-222X, 08/2019, Volume 33, Issue 8, pp. 1339 - 1346
Purpose To investigate eight previously unreported Pakistani families with genetically undefined OCA for mutations in TYR. Methods Sanger sequencing of TYR has... 
OPHTHALMOLOGY | SERIES | IDENTIFICATION | TYPE-1 | Literature reviews | Phenotypes | Albinism | TYR gene | Genetic diversity | Mutation | Population genetics | Bioinformatics | Structure-function relationships
Journal Article
Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1157 - 1161
Journal Article
Journal Article
Indian Journal of Pharmacology, ISSN 0253-7613, 10/2007, Volume 39, Issue 4, pp. 201 - 205
Objective: The present study was undertaken to evaluate the aqueous extract of K. pinnata for its protective effects on gentamicin-induced nephrotoxicity in... 
Bryophyllum pinnata | Antioxidant | Nephrotoxicity | Gentamicin | antioxidant | nephrotoxicity | LIPID-PEROXIDATION | CISPLATIN | LIVER | gentamicin | PHARMACOLOGY & PHARMACY | EXTRACT | Medicinal plants | Pharmacology, Experimental | Pharmacognosy | Research | Kidney diseases | Drug therapy
Journal Article
Journal Article