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Lista de obras de Shadab Salehpour

A double-blind, placebo-controlled comparison of letrozole to oxandrolone effects upon growth and puberty of children with constitutional delay of puberty and idiopathic short stature.

artículo científico publicado en 2010

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

artículo científico publicado en 2016

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

artículo científico publicado en 2024

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

artículo científico publicado en 2016

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

artículo científico publicado en 2024

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis

artículo científico publicado en 2009

Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.

artículo científico publicado en 2012

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection

artículo científico publicado en 2023

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

artículo científico publicado en 2022

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