Resultados de procura - Boris Utsch
- Mostrando 1 - 7 Resultados de 7
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1
Urinalysis in Children and Adolescents por Boris Utsch, Günter Klaus
Publicado 2014Revisão -
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3
Evidence of Oligogenic Inheritance in Nephronophthisis por Julia Hoefele, Matthias T. F. Wolf, John F. O’Toole, Edgar A. Otto, Ulla T. Schultheiß, Georges DeCombining Circumflex Accentschenes, Massimo Attanasio, Boris Utsch, Corinne Antignac, Friedhelm Hildebrandt
Publicado 2007Artigo -
4
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome por Josiane Hélou, Edgar A. Otto, Massimo Attanasio, S. J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, S. Hashmi, Elisa Fazzi, Heymut Omran, John F. O’Toole, John A. Sayer, Friedhelm Hildebrandt
Publicado 2007Carta -
5
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) por Edgar A. Otto, Kálmán Tory, Massimo Attanasio, Weibin Zhou, Moumita Chaki, Yasaswi Paruchuri, Eric L. Wise, M T F Wolf, Boris Utsch, C. Becker, Gudrun Nürnberg, Peter Nürnberg, Ahmet Nayır, Sophie Saunier, Corinne Antignac, Friedhelm Hildebrandt
Publicado 2009Artigo -
6
Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex por Lisa Gambhir, Tobias Höller, Martín Müller, G. Schott, Hannes Vogt, B. Detlefsen, A. Ebert, Margit Fisch, Sylvie Beaudoın, Raimund Stein, Simeon A. Boyadjiev, John P. Gearhart, Wolfgang Rösch, Boris Utsch, Thomas M. Boemers, Heiko Reutter, Michael Ludwig
Publicado 2008Artigo -
7
Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy por Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna Magdalena Schmidt, Anne‐Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M. Boemers, Elisabeth Mangold, Stefanie Heilmann‐Heimbach, Kerstin U. Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G. Herrmann, Manuel Mattheisen, Markus M. Nöthen, Michael Ludwig, Heiko Reutter
Publicado 2015Revisão
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Nephronophthisis
Pediatrics
Phenotype
Compound heterozygosity
Joubert syndrome
Asymptomatic
Bladder exstrophy
Chromosomal region
Cirrhosis
Clinical epidemiology
Congenital hepatic fibrosis
Cystic kidney disease
Dipstick
Epidemiology
Epispadias
Exon
Family medicine
General surgery
Genetic association
Genome
Genome-wide association study
Genotype
Hypotonia
Kidney