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bardet-biedl syndrome (51) 51
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06/2012
Primary cilia are evolutionarily conserved organelles required in a number of signalling pathways influencing the development and behaviour of a diverse range... 
0369 | Caenorhabditis elegans | Ciliopathy | Bardet-Biedl Syndrom | Guanylate Cyclase | cGMP | Genetic modifier | 0381 | 0307 | Model organism | Cilia
Dissertation
Primary cilia are evolutionarily conserved organelles required in a number of signalling pathways influencing the development and behaviour of a diverse range... 
0369 | Ciliopathy | Caenorhabditis elegans | Bardet-Biedl Syndrom | Guanylate Cyclase | cGMP | Genetic modifier | 0381 | 0307 | Model organism | Cilia
Dissertation
Der Nephrologe, ISSN 1862-040X, 5/2019, Volume 14, Issue 3, pp. 192 - 198
Ziliopathien stellen eine genetisch und klinisch heterogene Gruppe hereditärer Erkrankungen dar, deren pathophysiologische Gemeinsamkeit in der... 
Nephrology | ARPKD | Nephronophthisis | Metabolic Diseases | Registry studies | Oncology | Angiology | Bardet-Biedl syndrome | HNF1β nephropathy cilia | Urology | Bardet-Biedl-Syndrom | Transplant Surgery | HNF1β-Nephropathie-Zilien | Autosomal recessive polycystic kidney disease | Medicine & Public Health | Nephronophthise | Registerstudien
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2018, Volume 30, Issue 4, pp. 461 - 468
Journal Article
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 09/2017, Volume 34, Issue 5, pp. 62 - 72
Journal Article
Medicina Clínica, ISSN 0025-7753, 2014, Volume 145, Issue 4, pp. 147 - 152
Resumen Fundamento y objetivo El síndrome de Bardet-Biedl (SBB) es una enfermedad genética multisistémica poco frecuente en población caucásica, caracterizada... 
Internal Medicine | Algoritmo diagnóstico | Prevalence | Prevalencia | Ciliopathies | Bardet-Biedl syndrome | Diagnosis algorithm | Ciliopatías | Síndrome de Bardet-Biedl
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2010, Volume 78, Issue 5, pp. 424 - 431
Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. A founder mutation in BBS2 is... 
RNA | Analysis | Genomics | Genetic research | Physiological aspects | Boycotts | Genetic aspects | Ophthalmology | Bardet-Biedl syndrome | Single-nucleotide polymorphism | Mutation
Journal Article
Journal Article
Klinische Padiatrie, ISSN 0300-8630, 2001, Volume 213, Issue 1, pp. 8 - 12
Journal Article
Medecine Therapeutique Medecine de la Reproduction, Gynecologie et Endocrinologie, ISSN 1774-640X, 04/2010, Volume 12, Issue 2, pp. 90 - 94
Journal Article
Bulletin de l'Academie Nationale de Medecine, ISSN 0001-4079, 2009, Volume 193, Issue 6, pp. 1281 - 1288
Journal Article
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