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List of works by Maryam Sedghi

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

scientific article published on March 1, 2012

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

scientific article

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

scientific article

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

scientific article published on January 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 ⬇️

scientific article published on January 1, 2012

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

scientific article published on 4 January 2017

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

scientific article published on 03 December 2018

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

scientific article published on 13 April 2013

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

scientific article published on 4 May 2016

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

scientific article published on 10 November 2015

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

scientific article

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

scientific article published on 05 October 2018

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

scientific article published on 7 November 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

scientific article published on 27 January 2014

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

scientific article published on March 2013

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

scientific article published on 16 September 2014

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

scientific article published in March 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.

scientific article

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

scientific article published on 27 January 2014

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

scientific article published on 15 June 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

scientific article

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

scientific article published on 12 September 2013

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

scientific article published on 27 September 2019

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

scientific article

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

scientific article published on 08 April 2016

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

scientific article

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

scientific article published in February 2013

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

scientific article published on January 2017

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

scientific article published on 22 November 2013

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