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A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Patients with Neonatal Diabetes.

artículo científico publicado en 2017

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

artículo científico publicado en 2020

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay

artículo científico publicado en 2019

Identification of GJB2 Variants in 75 Unrelated Iranian Autosomal Recessive Non-syndromic Hearing Loss Patients

artículo científico publicado en 2022

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing

scientific article published on 30 August 2020

Influencing of antioxidants' gene variants on risk of diabetes mellitus and its complications: a systematic review

artículo científico publicado en 2017

Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

scientific article published on 29 May 2018

Isolated Congenital Anosmia and CNGA2 Mutation

artículo científico publicado en 2017

Kabuki Syndrome: Identification of Two Novel Variants in <i>KMT2D</i> and <i>KDM6A</i>

publication published on 17 February 2021

Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease

scientific article published on 01 November 2018

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

artículo científico publicado en 2019

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

scientific article published on 18 November 2020

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

artículo científico publicado en 2018

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

scientific article published on 19 May 2020

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