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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Nature (London), 2012-02, Vol.482 (7383), p.98-102

2012

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Editorial: Hereditary and acquired disorders of calcium homeostasis

Frontiers in endocrinology (Lausanne), 2022-12, Vol.13, p.1124762-1124762

2022

Volltextzugriff (PDF)

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Proceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (45), p.19096-19101

2009

Volltextzugriff (PDF)

Editorial: Nephrotic Syndrome in Children

Frontiers in pediatrics, 2021-11, Vol.9, p.803923-803923

2021

Volltextzugriff (PDF)

Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome

Frontiers in endocrinology (Lausanne), 2018-05, Vol.9, p.240

2018

Volltextzugriff (PDF)

Norovirus: a novel etiologic agent in hemolytic uremic syndrome in an infant

BMC nephrology, 2019-07, Vol.20 (1), p.247-247, Article 247

2019

Volltextzugriff (PDF)

Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III

Nature genetics, 1997-10, Vol.17 (2), p.171-178

1997

Volltextzugriff (PDF)

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients

Frontiers in pediatrics, 2020-09, Vol.8, p.591-591

2020

Volltextzugriff (PDF)

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

Science (American Association for the Advancement of Science), 1999-07, Vol.285 (5424), p.103-106

1999

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Acute Kidney Injury Post-cardiac Surgery in Infants and Children: A Single-Center Experience in a Developing Country

Frontiers in pediatrics, 2021-07, Vol.9, p.637463-637463

2021

Volltextzugriff (PDF)

Distinctive vasculopathy with systemic involvement due to levamisole long-term therapy: a case report

Journal of medical case reports, 2018-07, Vol.12 (1), p.209-209, Article 209

2018

Volltextzugriff (PDF)

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2

Nature genetics, 1996-06, Vol.13 (2), p.183-188

1996

Volltextzugriff (PDF)

Current Understanding of Nephrotic Syndrome in Children

The Pediatric clinics of North America, 2022-12, Vol.69 (6), p.1079

2022

Volltextzugriff (PDF)

Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link?

Case Reports in Nephrology, 2017-01, Vol.2017, p.9852912-4

2017

Volltextzugriff (PDF)

Etiology of hypertension in children and adolescents

Maġallat al-ṭibbiyat al-lubnāniyyat, 2010-07, Vol.58 (3), p.142-145

Sanjad, Sami A

2010

Volltextzugriff (PDF)

Severe hypoalphalipoproteinaemia in a child with acute post-streptococcal glomerulonephritis (APSGN)

BMJ case reports, 2013-11, Vol.2013, p.bcr2013200952

2013

Volltextzugriff (PDF)

A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype

Pediatric nephrology (Berlin, West), 2007-04, Vol.22 (4), p.503-508

2007

Volltextzugriff (PDF)

Response to steroids in early-onset nephrotic syndrome

Saudi journal of kidney diseases and transplantation, 2013-05, Vol.24 (3), p.590-591

2013

Volltextzugriff (PDF)

Renal venous thrombosis in a newborn with prothrombotic risk factors

Blood coagulation & fibrinolysis, 2009-09, Vol.20 (6), p.458-460

2009

Volltextzugriff (PDF)

Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption

Science (American Association for the Advancement of Science), 1999-07, Vol.285 (5424), p.103-106

1999

Volltextzugriff (PDF)

Pyloric Atresia: An Unusual Presentation

Journal of case reports, 2016-03, p.104-108

2016

Volltextzugriff (PDF)

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

Journal of pediatric endocrinology & metabolism : JPEM, 2017-04, Vol.30 (4), p.437

2017

Volltextzugriff (PDF)

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

Nature genetics, 1996-10, Vol.14 (2), p.152-156

1996

Volltextzugriff (PDF)

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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Editorial: Hereditary and acquired disorders of calcium homeostasis

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Editorial: Nephrotic Syndrome in Children

Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome

Norovirus: a novel etiologic agent in hemolytic uremic syndrome in an infant

Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

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

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

Acute Kidney Injury Post-cardiac Surgery in Infants and Children: A Single-Center Experience in a Developing Country

Distinctive vasculopathy with systemic involvement due to levamisole long-term therapy: a case report

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2

Current Understanding of Nephrotic Syndrome in Children

Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link?

Etiology of hypertension in children and adolescents

Severe hypoalphalipoproteinaemia in a child with acute post-streptococcal glomerulonephritis (APSGN)

A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype

Response to steroids in early-onset nephrotic syndrome

Renal venous thrombosis in a newborn with prothrombotic risk factors

Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption

Pyloric Atresia: An Unusual Presentation

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

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