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Boris Utsch

Showing results (21-30 of 32) with videos related to

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Journal of Medical Genetics|July 10, 2007
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndromeJuliana Helou, Edgar A Otto, Massimo Attanasio, et al.
The Journal of Pediatrics|August 10, 2010
A hospital-based intermittent nocturnal hemodialysis program for children and adolescentsAnne Hoppe, Christina von Puttkamer, Ursula Linke, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 3, 2005
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkageMatthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|February 8, 2005
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney diseaseMark B Consugar, Sarah A Anderson, Sandro Rossetti, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 13, 2006
Novel OCRL1 mutations in patients with the phenotype of Dent diseaseBoris Utsch, Arend Bökenkamp, Marcus R Benz, et al.
Plos Genetics|March 13, 2015
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophyMarkus Draaken, Michael Knapp, Tracie Pennimpede, et al.
Geburtshilfe Und Frauenheilkunde|December 13, 2021
Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)Peter Oppelt, Helge Binder, Jacques Birraux, et al.
Geburtshilfe Und Frauenheilkunde|December 13, 2021
Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)Peter Oppelt, Helge Binder, Jacques Birraux, et al.
The Journal of Pediatrics|June 18, 2011
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and EuropeHeiko Reutter, Simeon A Boyadjiev, Lisa Gambhir, et al.
Nature Genetics|February 22, 2005
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A Otto, Bart Loeys, Hemant Khanna, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|July 10, 2007
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndromeJuliana Helou, Edgar A Otto, Massimo Attanasio, et al.
The Journal of Pediatrics|August 10, 2010
A hospital-based intermittent nocturnal hemodialysis program for children and adolescentsAnne Hoppe, Christina von Puttkamer, Ursula Linke, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 3, 2005
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkageMatthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|February 8, 2005
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney diseaseMark B Consugar, Sarah A Anderson, Sandro Rossetti, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 13, 2006
Novel OCRL1 mutations in patients with the phenotype of Dent diseaseBoris Utsch, Arend Bökenkamp, Marcus R Benz, et al.
Plos Genetics|March 13, 2015
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophyMarkus Draaken, Michael Knapp, Tracie Pennimpede, et al.
Geburtshilfe Und Frauenheilkunde|December 13, 2021
Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)Peter Oppelt, Helge Binder, Jacques Birraux, et al.
Geburtshilfe Und Frauenheilkunde|December 13, 2021
Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)Peter Oppelt, Helge Binder, Jacques Birraux, et al.
The Journal of Pediatrics|June 18, 2011
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and EuropeHeiko Reutter, Simeon A Boyadjiev, Lisa Gambhir, et al.
Nature Genetics|February 22, 2005
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A Otto, Bart Loeys, Hemant Khanna, et al.
Pageof 4