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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Nature genetics, 2006-06, Vol.38 (6), p.674-681

2006

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Estimated Glomerular Filtration Rates Calculated by New and Old Equations in Children and Adolescents With Type 1 Diabetes-What to Do With the Results?

Frontiers in endocrinology (Lausanne), 2020-02, Vol.11, p.52-52

2020

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Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

PLoS genetics, 2015-03, Vol.11 (3), p.e1005024-e1005024

2015

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A Hospital-Based Intermittent Nocturnal Hemodialysis Program for Children and Adolescents

The Journal of pediatrics, 2011, Vol.158 (1), p.64-99.e1

2011

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Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease

Nephrology, dialysis, transplantation, 2006-10, Vol.21 (10), p.2708-2717

2006

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Urinalysis in Children and Adolescents

Deutsches Ärzteblatt international, 2014-09

2014

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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Pediatric nephrology (Berlin, West), 2006-01, Vol.21 (1), p.32-35

2006

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Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe

The Journal of pediatrics, 2011-11, Vol.159 (5), p.825-831.e1

2011

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Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

Human molecular genetics, 2004-11, Vol.13 (22), p.2841-2851

2004

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Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3161-3168

2007

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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)

Geburtshilfe und Frauenheilkunde, 2021-12, Vol.81 (12), p.1329-1347

2021

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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)

Geburtshilfe und Frauenheilkunde, 2021-12, Vol.81 (12), p.1307-1328

2021

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Urinalysis in children and adolescents

Deutsches Ärzteblatt international, 2014-09, Vol.111 (37), p.617-25; quiz 626

2014

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Applicability of Neonatal Pain Scores depending on Level of Education and Work Experience in Child Care

Klinische Padiatrie, 2019-03, Vol.231 (2), p.87

2019

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Transvascular kidney biopsy in adolescent patients-safe alternative to open procedures

Clinical kidney journal, 2021-01, Vol.14 (1), p.451-453

2021

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Evidence of oligogenic inheritance in nephronophthisis

Journal of the American Society of Nephrology, 2007-10, Vol.18 (10), p.2789-2795

2007

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Epidemiologic study of the bladder exstrophy-epispadias complex: analysis of 198 families

Journal of pediatric urology, 2007, Vol.3, p.S72-S72

Lisa GAMBHIR, Heiko REUTTER , Boris UTSCH , Martin MÜLLER , Birte DETLEFSEN , Hannes VOGT, Thomas M. BOEMERS , Wolfgang H. RÖSCH and Michael LUDWIG

2007

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Novel NCCT Gene Mutations as a Cause of Gitelman’s Syndrome and a Systematic Review of Mutant and Polymorphic NCCT Alleles

Kidney & blood pressure research, 2002-01, Vol.25 (6), p.354-362

2002

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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Human molecular genetics, 2014-10, Vol.23 (20), p.5536-5544

2014

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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.657-663

2007

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Item Reduction to Improve Practicability of Neonatal Pain Assessment Tools - Comparison of NFCSshort and PIPP in Daily Clinical Practice

Klinische Padiatrie, 2022-03, Vol.234 (2), p.68

2022

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Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

American journal of kidney diseases, 2006-12, Vol.48 (6), p.942.e1-942.e14

2006

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Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization

Human genetics, 2005-07, Vol.117 (2-3), p.228-237

2005

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Estimated Glomerular Filtration Rates Calculated by New and Old Equations in Children and Adolescents With Type 1 Diabetes-What to Do With the Results?

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

A Hospital-Based Intermittent Nocturnal Hemodialysis Program for Children and Adolescents

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease

Urinalysis in Children and Adolescents

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome

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)

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)

Urinalysis in children and adolescents

Applicability of Neonatal Pain Scores depending on Level of Education and Work Experience in Child Care

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Transvascular kidney biopsy in adolescent patients-safe alternative to open procedures

Evidence of oligogenic inheritance in nephronophthisis

Epidemiologic study of the bladder exstrophy-epispadias complex: analysis of 198 families

Novel NCCT Gene Mutations as a Cause of Gitelman’s Syndrome and a Systematic Review of Mutant and Polymorphic NCCT Alleles

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy: e1005024

Item Reduction to Improve Practicability of Neonatal Pain Assessment Tools - Comparison of NFCSshort and PIPP in Daily Clinical Practice

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization

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