S. Arzhangi

发表

Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2020, Archives of Iranian medicine.

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

D. Kolbe, M. Farhadi, M. Azizi, 2016, Archives of Iranian medicine.

Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

H. Ropers, A. Kariminejad, V. Kalscheuer, 2019, Clinical genetics.

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

H. Ropers, V. Kalscheuer, Y. Riazalhosseini, 2020, Molecular genetics & genomic medicine.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2019, International journal of pediatric otorhinolaryngology.

Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2019, Archives of Iranian medicine.

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

K. Kahrizi, H. Najmabadi, C. Nishimura, 2012, International journal of pediatric otorhinolaryngology.

Research Paper: The Impact of Time-use Training on the Quality of Time Management in the Mothers of Children With Intellectual Disabilities

M. Tafreshi, S. Hosseinzadeh, M. Hosseini, 2020 .

The effects of time use training on the level of stress among the mothers of female children with intellectual disabilities

M. Tafreshi, S. Hosseinzadeh, M. Hosseini, 2019, Nursing and Midwifery Studies.

Effect of inbreeding on intellectual disability revisited by trio sequencing

T. Wienker, H. Ropers, V. Kalscheuer, 2018, Clinical genetics.

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2019, International journal of pediatric otorhinolaryngology.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

PDZD7 and hearing loss: More than just a modifier

Allen C. Simpson, M. Schnieders, K. Kahrizi, 2015, American journal of medical genetics. Part A.

GJB2 mutations in Iranians with autosomal recessive non‐syndromic sensorineural hearing loss

M. Farhadi, K. Kahrizi, H. Najmabadi, 2002, Human mutation.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

Distinct genetic variation and heterogeneity of the Iranian population

R. Malekzadeh, F. Najafi, H. Poustchi, 2019, PLoS genetics.

Iranome: A catalog of genomic variations in the Iranian population

R. Malekzadeh, H. Poustchi, B. Timmermann, 2019, Human mutation.

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

K. Kahrizi, H. Najmabadi, H. Azaiez, 2020, Journal of Human Genetics.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Allen C. Simpson, M. Farhadi, K. Kahrizi, 2015, Journal of Medical Genetics.

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran

M. Nothnagel, F. Bahrami, K. Kahrizi, 2020, Clinical genetics.

Connexin-26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness in the Iranian population

Y. Riazalhosseini, M. Farhadi, K. Kahrizi, 2003 .

Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

M. Farhadi, H. Najmabadi, A. Daneshi, 2011, The Journal of Laryngology & Otology.

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

K. Kahrizi, H. Najmabadi, A. Shearer, 2012, American journal of medical genetics. Part A.

GJB2 mutations: Passage through Iran

Y. Riazalhosseini, M. Farhadi, K. Kahrizi, 2005, American journal of medical genetics. Part A.

The frequency of GJB2 mutations and the Δ (GJB6‐D13S1830) deletion as a cause of autosomal recessive non‐syndromic deafness in the Kurdish population

Y. Riazalhosseini, H. Najmabadi, C. Nishimura, 2004, Clinical genetics.

Variants in CIB2 cause DFNB48 and not USH1J

M. Tekin, A. El-Amraoui, D. Duman, 2018, Clinical genetics.

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2020, Archives of Iranian medicine.

Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease.

M. Farhadi, K. Kahrizi, H. Najmabadi, 2020, Archives of Iranian medicine.

S0022215110002999jra 455..459

M. Farhadi, H. Najmabadi, A. Daneshi, 2011 .

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease

K. Kahrizi, H. Najmabadi, M. Mohseni, 2022, Archives of Iranian medicine.

Frequency of Connexin26 Gene Mutations in Autosomal Recessive Non-syndromic Deafness in Kermanshah(2002-4)

H. Najmabadi, M. Totonchi, Richard J. H. Smith, 2005 .

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran

K. Kahrizi, H. Najmabadi, S. Nafissi, 2023, Archives of Iranian medicine.

Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort

K. Kahrizi, H. Najmabadi, Z. Fattahi, 2023, Archives of Iranian medicine.