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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

Journal of medical genetics, 2009-10, Vol.46 (10), p.663-670

2009

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Multinational Enterprises, Sustainability and Innovation

2023

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Multinational Enterprises, Sustainability and Innovation

2023

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Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis

Proceedings of the National Academy of Sciences - PNAS, 1998-05, Vol.95 (11), p.6337-6342

1998

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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Journal of medical genetics, 2002-11, Vol.39 (11), p.796-803

2002

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Circumcision for the prevention of significant bacteriuria in boys

Pediatric nephrology (Berlin, West), 2001-12, Vol.16 (12), p.1129-1134

NAYIR, Ahmet

2001

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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Journal of the American Society of Nephrology, 2015-06, Vol.26 (6), p.1279-1289

2015

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What Has Changed in Pediatric Kidney Transplantation in Turkey? Experience of an Evolving Center

Transplantation proceedings, 2013-04, Vol.45 (3), p.908-912

2013

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Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

Clinical journal of the American Society of Nephrology, 2014-06, Vol.9 (6), p.1109-1116

2014

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Methods of Improving Superconductive Fault Current Limiting Devices in Power Engineering

Elektronika ir elektrotechnika, 2013-01, Vol.19 (3), p.33

2013

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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Nephrology, dialysis, transplantation, 2010-09, Vol.25 (9), p.2970-2976

2010

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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Journal of medical genetics, 2011-02, Vol.48 (2), p.105-116

2011

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Frequency of renal malformations in turner syndrome: analysis of 82 Turkish children

Pediatric nephrology (Berlin, West), 2000-10, Vol.14 (12), p.1111-1114

2000

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Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

Nephron, 2012-08, Vol.120 (3), p.c139-c146

2012

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T-lymphocyte populations, cytokines and other growth factors in serum and urine of children with idiopathic nephrotic syndrome

Clinical nephrology, 1997-05, Vol.47 (5), p.289

1997

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Nature genetics, 2002-10, Vol.32 (2), p.300-305

2002

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Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Nature genetics, 2000-09, Vol.26 (1), p.71-75

2000

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Determination of urinary calculi by binocular stereoscopic microscopy

Pediatric nephrology (Berlin, West), 2002-06, Vol.17 (6), p.425-432

NAYIR, Ahmet

2002

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Hemostatic problems and thromboembolic complications in nephrotic children

Pediatric nephrology (Berlin, West), 2000-02, Vol.14 (2), p.138-142

2000

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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Nature genetics, 1999-01, Vol.21 (1), p.84-90

1999

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The effects of vaccination with inactivated uropathogenic bacteria in recurrent urinary tract infections of children

Vaccine, 1995, Vol.13 (11), p.987-990

1995

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Haemoperfusion in Amanita phalloides Poisoning

Journal of tropical pediatrics (1980), 1995-12, Vol.41 (6), p.371-374

1995

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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34

American journal of human genetics, 1999-12, Vol.65 (6), p.1656-1665

1999

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Isolated cerebellar involvement in a case of posterior reversible leukoencephalopathy

Clinical radiology, 2006-11, Vol.61 (11), p.983-986

2006

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A case of an enterorenal fistula and pyelonephritis with air in the renal pelvis

Pediatric radiology, 1995-05, Vol.25 (3), p.229-230

1995

Volltextzugriff (PDF)

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

Multinational Enterprises, Sustainability and Innovation

Multinational Enterprises, Sustainability and Innovation

Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Circumcision for the prevention of significant bacteriuria in boys

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

What Has Changed in Pediatric Kidney Transplantation in Turkey? Experience of an Evolving Center

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

Methods of Improving Superconductive Fault Current Limiting Devices in Power Engineering

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Frequency of renal malformations in turner syndrome: analysis of 82 Turkish children

Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

T-lymphocyte populations, cytokines and other growth factors in serum and urine of children with idiopathic nephrotic syndrome

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Determination of urinary calculi by binocular stereoscopic microscopy

Hemostatic problems and thromboembolic complications in nephrotic children

Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

The effects of vaccination with inactivated uropathogenic bacteria in recurrent urinary tract infections of children

Haemoperfusion in Amanita phalloides Poisoning

Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34

Isolated cerebellar involvement in a case of posterior reversible leukoencephalopathy

A case of an enterorenal fistula and pyelonephritis with air in the renal pelvis

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