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Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

Journal of human genetics, 2014-07, Vol.59 (7), p.387-392

2014

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LMNA mutations in atypical Werner's syndrome

The Lancet (British edition), 2003-08, Vol.362 (9382), p.440-445

2003

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Identification of CANT1 Mutations in Desbuquois Dysplasia

American journal of human genetics, 2009-11, Vol.85 (5), p.706-710

2009

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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

Cell journal (Yakhteh), 2019-10, Vol.21 (3), p.337-349

2019

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Frontiers in pediatrics, 2019-05, Vol.7, p.210

2019

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Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

Journal of human genetics, 2014-07, Vol.59 (7), p.417-417

2014

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Yunis-Varón syndrome: the first report of two Iranian cases

Acta medica Iranica, 2014, Vol.52 (1), p.85-87

2014

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Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family

Acta medica Iranica, 2013-12, Vol.51 (12), p.907

2013

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Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome

Journal of cellular biochemistry, 2021-09, Vol.122 (9), p.1229-1238

2021

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Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer

Cell journal (Yakhteh), 2012-01, Vol.14 (1), p.19-24

2012

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Unilateral Kidney Agenesis in a Child with Fraser Syndrome: A Case Report

Gene, cell and tissue, 2017-10, Vol.4 (4)

2017

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Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series

Journal of child neurology, 2013-12, Vol.28 (12), p.1599-1606

2013

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Journal of medical genetics, 2007-02, Vol.44 (2), p.89-98

2007

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Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Molecular syndromology, 2020-06, Vol.11 (2), p.62-72

2020

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Fraser syndrome due to homozygosity for a splice site mutation of FREM2

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.529-531

2008

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Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1

Gene, 2013-04, Vol.518 (2), p.461-466

2013

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Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene

Archives of Iranian medicine, 2008-05, Vol.11 (3), p.330

2008

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Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

European journal of pediatrics, 2010-12, Vol.169 (12), p.1535-1539

2010

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C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I

Annals of clinical and laboratory science, 2013, Vol.43 (1), p.76-80

2013

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L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature

Archives of Iranian medicine, 2006-04, Vol.9 (2), p.165

2006

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Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18

Indian journal of human genetics, 2011-05, Vol.17 (2), p.111-113

2011

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Molecular analysis of the neuronal apoptosis inhibitory protein gene in families with spinal muscular atrophy

Archives of Iranian medicine, 2007-10, Vol.10 (4), p.509

2007

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Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy

Annals of the Academy of Medicine, Singapore, 2009-02, Vol.38 (2), p.139-141

2009

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Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3223-3226

2008

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Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

LMNA mutations in atypical Werner's syndrome

Identification of CANT1 Mutations in Desbuquois Dysplasia

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

Yunis-Varón syndrome: the first report of two Iranian cases

Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family

Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome

Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer

Unilateral Kidney Agenesis in a Child with Fraser Syndrome: A Case Report

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Fraser syndrome due to homozygosity for a splice site mutation of FREM2

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1

Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I

L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature

Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18

Molecular analysis of the neuronal apoptosis inhibitory protein gene in families with spinal muscular atrophy

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

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