Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
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Recurrence and Treatment after Renal Transplantation in Children with FSGSBiallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyMutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeGenetic testing in steroid-resistant nephrotic syndrome: when and how?Exploring the genetic basis of early-onset chronic kidney disease.Nucleoporin genes in human diseases.MAGI2 Mutations Cause Congenital Nephrotic Syndrome.The roles of the nuclear pore complex in cellular dysfunction, aging and disease.Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.Novel KCNB1 mutation associated with non-syndromic intellectual disability.Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.Monogenic Causes of Proteinuria in Children.Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.NUP107 mutations in children with steroid-resistant nephrotic syndrome.Zebrafish as a Model for Drug Screening in Genetic Kidney Diseases.Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeTriazophos-induced toxicity in zebrafish: inhibits
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P2860
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
description
2015 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
@ast
im Oktober 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
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vedecký článok (publikovaný 2015/10/01)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/10/01)
@nl
наукова стаття, опублікована в жовтні 2015
@uk
مقالة علمية (نشرت في أكتوبر 2015)
@ar
name
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@ast
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@en
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@nl
type
label
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@ast
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@en
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@nl
prefLabel
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@ast
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@en
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@nl
P2093
P2860
P50
P3181
P1476
Biallelic Mutations in Nuclear ...... d-Resistant Nephrotic Syndrome
@en
P2093
Akemi Shono
Akihide Ryo
Akiko Kitamura
Atsushi Fujita
Eriko Koshimizu
Hae Il Cheong
Hiroyasu Tsukaguchi
Kandai Nozu
Kazuhiro Ogata
Kazumoto Iijima
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P304
P3181
P356
10.1016/J.AJHG.2015.08.013
P407
P577
2015-10-01T00:00:00Z