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List of works by Horia C Stanescu

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

scientific article

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research

scientific article

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

scientific article

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings

scientific article

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

scientific article

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle? ⬇️

scientific article published on September 1, 2011

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

scientific article

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

scientific article

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies

scientific article published on 4 February 2016

Genetics of membranous nephropathy

scientific article

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

scientific article

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

scientific article

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy

scientific article published on 21 February 2013

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

scientific article published on 3 April 2017

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy

scientific journal article

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