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List of works by Maryam Abiri

Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort

scientific article published on 18 July 2018

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

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.

scientific article published on 28 December 2017

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

scientific article published on 27 October 2016

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

scientific article published on 21 November 2016

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

scientific article published on 24 January 2018

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

scientific article published on 01 January 2017

Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.

scientific article

In silico analysis of novel mutations in maple syrup urine disease patients from Iran.

scientific article

Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group

scientific article published on 4 June 2016

Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations

scientific article published on 22 May 2019

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

article

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

scientific article published on 19 August 2017

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

scientific article published on 11 November 2017

Replication of TCF7L2 rs7903146 association with type 2 diabetes in an Iranian population ⬇️

scientific article published on September 1, 2010

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