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Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Clinical case reports, 2022-08, Vol.10 (8), p.n/a

2022

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An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

International journal of endocrinology, 2021-12, Vol.2021, p.4367028-5

2021

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Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions

Cancer cell international, 2024-01, Vol.24 (1), p.26-26, Article 26

2024

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

BMC medical genomics, 2024-01, Vol.17 (1), p.20-20, Article 20

2024

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Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome

Journal of molecular neuroscience, 2020, Vol.70 (1), p.21-25

2020

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

Neurological sciences, 2022-04, Vol.43 (4), p.2859-2863

2022

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Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

BMC medical genomics, 2024-02, Vol.17 (1), p.51-51, Article 51

2024

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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

BMC medical genomics, 2024-08, Vol.17 (1), p.1-15, Article 196

2024

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Primordial germ cells can be differentiated by retinoic acid and progesterone induction from embryonic stem cells

Journal of biosciences, 2021-09, Vol.46 (3), Article 87

2021

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Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

Molecular genetics and metabolism reports, 2024-09, Vol.40, p.101125, Article 101125

2024

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An immunocompetent patient with a nonsense mutation in NHEJ1 gene

BMC medical genetics, 2019-03, Vol.20 (1), p.45-45, Article 45

2019

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Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome

Heliyon, 2024-03, Vol.10 (6), p.e27434-e27434, Article e27434

2024

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Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review

Epilepsy & behavior reports, 2024-01, Vol.27, p.100702, Article 100702

2024

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Green Tea in Non-Alcoholic Fatty Liver Disease: A Double Blind Randomized Clinical Trial

Hepatitis monthly, 2017-12, Vol.17 (12)

2017

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A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Iranian journal of medical sciences, 2016-09, Vol.41 (5), p.456-458

2016

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Report of a Case with Trisomy 9 Mosaicism

Iranian journal of medical sciences, 2016-05, Vol.41 (3), p.249-252

2016

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The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders

Metabolic brain disease, 2023, Vol.38 (1), p.1-16

2023

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Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Cell journal (Yakhteh), 2016, Vol.18 (3), p.397-404

2016

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Co-culture of Mouse Embryonic Stem Cells with Sertoli Cells Promote in vitro Generation of Germ Cells

Iranian journal of basic medical sciences, 2013-06, Vol.16 (6), p.779-783

2013

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Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

Human genetics, 2023-08, Vol.142 (8), p.1001-1016

2023

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Clinical and genetic characterization of neuronal ceroid lipofuscinoses

Human genetics, 2023-08, Vol.142 (8)

2023

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A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

International journal of molecular and cellular medicine, 2016, Vol.5 (3), p.192-195

2016

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A vector-based system for the differentiation of mouse embryonic stem cells toward germ-line cells

Iranian journal of basic medical sciences, 2014-08, Vol.17 (8), p.566-570

2014

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A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities

Gene, 2016-01, Vol.576 (1), p.379-380

2016

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Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

Neuromuscular disorders : NMD, 2022-10, Vol.32 (10), p.806-810

2022

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Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions

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

Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome

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

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

Primordial germ cells can be differentiated by retinoic acid and progesterone induction from embryonic stem cells

Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

An immunocompetent patient with a nonsense mutation in NHEJ1 gene

Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review

Green Tea in Non-Alcoholic Fatty Liver Disease: A Double Blind Randomized Clinical Trial

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Report of a Case with Trisomy 9 Mosaicism

The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Co-culture of Mouse Embryonic Stem Cells with Sertoli Cells Promote in vitro Generation of Germ Cells

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

Clinical and genetic characterization of neuronal ceroid lipofuscinoses

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

A vector-based system for the differentiation of mouse embryonic stem cells toward germ-line cells

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

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