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Journal Article
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2014, Volume 2, Issue 2, pp. 124 - 133
Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in... 
intrafamilial variability | Bardet–Biedl Syndrome | MKKS | NPHP4 | NGS | Biedl Syndrome | Bardet | Intrafamilial variability | Mutation | Phenotypes | Congenital diseases | Variability | Genes | Phenotypic variations | Epistasis | Gene sequencing | Heterogeneity | Genotype & phenotype | MKKS protein | Network analysis | Genetic testing | Deoxyribonucleic acid--DNA | Original
Journal Article
Therapeutics and Clinical Risk Management, ISSN 1176-6336, 2012, Volume 8, pp. 373 - 376
Background: Primary hyperoxaluria type 1 (PH1) is characterized by progressive renal insufficiency culminating in end-stage renal disease, and a wide range of... 
PH1 | Primary hyperoxaluria | Oxalosis | Intrafamilial variability | HETEROGENEITY | GENOTYPE | MUTATION | HEALTH CARE SCIENCES & SERVICES | oxalosis | PHENOTYPE | intrafamilial variability | primary hyperoxaluria | TRANSPLANTATION | Kidney diseases | Case Report
Journal Article
Journal of Endocrinological Investigation, ISSN 0391-4097, 5/2013, Volume 34, Issue 11, pp. 77 - 363
Journal Article