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Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

Cell journal (Yakhteh), 2021-10, Vol.23 (5), p.598-602

2021

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Identification of a Novel Non-Stop Mutation in PDE6C Gene in an Iranian Family With Con-Rod Dystrophy

Acta medica Iranica, 2020, Vol.58 (6), p.297

2020

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Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

Cell journal (Yakhteh), 2018-04, Vol.20 (1), p.127-131

2018

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Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

Cell journal (Yakhteh), 2018-07, Vol.20 (2), p.290-292

2018

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Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature

International journal of pediatric otorhinolaryngology, 2017-12, Vol.103, p.103-108

2017

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Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family

Canadian journal of ophthalmology, 2018-06, Vol.53 (3), p.e87-e89

2018

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Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing

International journal of pediatric otorhinolaryngology, 2017-06, Vol.97, p.192-196

2017

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A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A

Gene, cell and tissue, 2016-01, Vol.3 (1)

2016

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Novel LDB3 Mutation in a Patient With Autosomal Dominant Myofibrillar Myopathy

Gene, cell and tissue, 2016-01, Vol.3 (1)

2016

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Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

Cell journal (Yakhteh), 2018-01, Vol.20 (2), p.290-292

2018

Volltextzugriff (PDF)

Frequency of GJB2 mutations in families with autosomal recessive non-syndromic hearing loss in Khuzestan province

Genetika (Beograd), 2018, Vol.50 (3), p.837-846

2018

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Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

Iranian biomedical journal, 2017-09, Vol.21 (5), p.338-342

2017

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PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

Cell journal, 2021, Vol.23 (5), p.598-602

2021

Volltextzugriff (PDF)

Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 2018, Vol.53 (3), p.e87-e89

2018

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Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma

The Journal of clinical investigation, 2023-10, Vol.133 (20), p.1-19

2023

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Assessments of genetic diversity in Iranian flax populations using retrotransposon microsatellite amplification polymorphisms (REMAP) markers

Nucleus (Calcutta), 2018-04, Vol.61 (1), p.55-60

2018

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Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

Identification of a Novel Non-Stop Mutation in PDE6C Gene in an Iranian Family With Con-Rod Dystrophy

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature

Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing

A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A

Novel LDB3 Mutation in a Patient With Autosomal Dominant Myofibrillar Myopathy

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

Frequency of GJB2 mutations in families with autosomal recessive non-syndromic hearing loss in Khuzestan province

Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family

Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma

Assessments of genetic diversity in Iranian flax populations using retrotransposon microsatellite amplification polymorphisms (REMAP) markers

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