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List of works by 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.

scientific article published on 14 July 2010

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

scientific article published on 16 May 2016

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

scientific article published on 15 April 2024

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

scientific article published on 28 September 2016

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

scientific article published on 12 January 2024

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

scientific article published in July 2009

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

scientific article published on 8 November 2012

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

scientific article published on 15 July 2023

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

scientific article published on 31 January 2022

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