about
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.In silico analysis of novel mutations in maple syrup urine disease patients from Iran.Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous populationMultigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic ImplicationsHyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 GeneAutozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohortMaple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations
P50
Q30384719-6ECFEC28-F228-416A-BEE5-5D42AD285897Q40718887-CD3B6365-2BF5-4404-80D5-4634CBDEEABAQ47402496-C22DE272-59E1-4969-95B0-0EF48795E08AQ48339468-FCB13B2A-9DCF-4FAA-88CF-84A4C9673764Q48579555-9142054F-A5C8-4F4C-879F-ADBA958AE2A7Q49823306-41A51718-171D-4945-83E9-C6ACA47A9334Q50228042-952F85DA-2BF5-4062-B47F-BC45FA7F535EQ51296913-6486CC1A-F697-4740-A1DE-75DEFBDD5B32Q51305050-C3B023A5-AA0B-498D-BA39-05EBEA31AF3BQ64136531-70911FD0-6C67-4D4D-B248-986CEC7D2D64Q88828359-FF895886-0CA2-4CE5-B6E3-8F84E491B6D4Q89426790-84DEF2F4-99D0-484D-9062-CC6042878867Q90324744-6D82C78F-2608-462B-BBB9-4D4E4CDBD2BAQ92232527-8EB881A3-C228-401A-81CE-99C761273F63
P50
description
researcher ORCID ID = 0000-0002-5004-8390
@en
wetenschapper
@nl
name
Maryam Abiri
@ast
Maryam Abiri
@en
Maryam Abiri
@es
Maryam Abiri
@nl
type
label
Maryam Abiri
@ast
Maryam Abiri
@en
Maryam Abiri
@es
Maryam Abiri
@nl
prefLabel
Maryam Abiri
@ast
Maryam Abiri
@en
Maryam Abiri
@es
Maryam Abiri
@nl
P1153
36112922700
P31
P496
0000-0002-5004-8390