Lista de obras -

A case report of 22q11 deletion syndrome confirmed by array-CGH method ⬇️

artículo científico publicado el 1 de marzo de 2012

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

artículo científico publicado en 2018

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.

artículo científico publicado en 2014

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

artículo científico publicado en 2012

A performance evaluation of probabilistic vs. deterministic spiking neural network

An insight into genetics of non-syndromic cleft palate.

scientific article published on 06 March 2013

Association between Mismatch Repair Gene MSH3 codons 1036 and 222 Polymorphisms and Sporadic Prostate Cancer in the Iranian Population ⬇️

artículo científico publicado el 1 de enero de 2012

Association of AHSG with alopecia and mental retardation (APMR) syndrome

artículo científico publicado en 2017

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant

artículo científico publicado en 2018

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

artículo científico publicado en 2013

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

artículo científico publicado en 2016

D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population

artículo científico publicado en 2015

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

artículo científico publicado en 2014

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

artículo científico publicado en 2018

Effects of early versus delayed excision and grafting on the return of the burned hand function

artículo científico publicado en 2016

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

artículo científico publicado en 2014

Evaluation of neural gene expression in serum treated embryonic stem cells in Alzheimer's patients ⬇️

artículo científico publicado el 1 de marzo de 2013

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population

artículo científico publicado en 2014

Gene mutation analysis in Iranian children with nephronophthisis: a two-center study

artículo científico publicado en 2015

Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome

scientific article published on 01 January 2019

Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.

artículo científico publicado en 2016

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

artículo científico

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation

artículo científico publicado en 2015

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

artículo científico publicado en 2015

Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

artículo científico publicado en 2013

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study

artículo científico publicado en 2019

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

artículo científico publicado en 2015

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP

scientific article published on 03 September 2019

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents

artículo científico publicado en 2016

Structural and functional impact of missense mutations in TPMT: An integrated computational approach.

artículo científico publicado en 2015

The impact of educating parents of leukaemic children on the healthy siblings' quality of life

artículo científico publicado en 2013

Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure

artículo científico publicado en 2017

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries

artículo científico publicado en 2013

Lista de obras de

A case report of 22q11 deletion syndrome confirmed by array-CGH method ⬇️

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

A performance evaluation of probabilistic vs. deterministic spiking neural network

An insight into genetics of non-syndromic cleft palate.

Association between Mismatch Repair Gene MSH3 codons 1036 and 222 Polymorphisms and Sporadic Prostate Cancer in the Iranian Population ⬇️

Association of AHSG with alopecia and mental retardation (APMR) syndrome

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

Effects of early versus delayed excision and grafting on the return of the burned hand function

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

Evaluation of neural gene expression in serum treated embryonic stem cells in Alzheimer's patients ⬇️

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population

Gene mutation analysis in Iranian children with nephronophthisis: a two-center study

Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome

Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents

Structural and functional impact of missense mutations in TPMT: An integrated computational approach.

The impact of educating parents of leukaemic children on the healthy siblings' quality of life

Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries