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1.
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Pediatr Nephrol
; 35(6): 1125-1128, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32198635
2.
Eculizumab treatment in severe pediatric STEC-HUS: a multicenter retrospective study.
Pediatr Nephrol
; 33(8): 1385-1394, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29572749
3.
A very uncommon cause of acute kidney injury in infancy.
Kidney Int
; 100(4): 948-950, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34556303
4.
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Hum Mutat
; 35(2): 178-86, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24227627
5.
Efficacy and safety of intravenous immunoglobulin with rituximab versus rituximab alone in childhood-onset steroid-dependent and frequently relapsing nephrotic syndrome: protocol for a multicentre randomised controlled trial.
BMJ Open
; 10(9): e037306, 2020 09 23.
Article
in English
| MEDLINE | ID: mdl-32967877
6.
School level of children carrying a HNF1B variant or a deletion.
Eur J Hum Genet
; 28(1): 56-63, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31481685
7.
Molecular characterization of a recurrent 10.9â¯kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
Eur J Med Genet
; 62(11): 103577, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-30423445
8.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Clin J Am Soc Nephrol
; 7(5): 801-9, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22422540
9.
[Corticosensitive nephrotic syndrome (or nephrosis) in children. Therapeutic guideline proposed by the Pediatric Society of Nephrology]. / Syndrome néphrotique pur (ou néphrose) corticosensible de l'enfant. Protocole de traitement proposé par la Société de Néphrologie Pédiatrique.
Nephrol Ther
; 1(3): 150-6, 2005 Jul.
Article
in French
| MEDLINE | ID: mdl-16895680
10.
Comparison of multiplex PCR assays and conventional techniques for the diagnostic of respiratory virus infections in children admitted to hospital with an acute respiratory illness.
J Med Virol
; 78(11): 1498-504, 2006 Nov.
Article
in English
| MEDLINE | ID: mdl-16998894
11.
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol
; 17(5): 1437-43, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16611712
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