Mehrshid Faraji Zonooz

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

A. Kariminejad, H. Najmabadi, Richard J. H. Smith, 2019, Iranian journal of public health.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

A. Kariminejad, F. Javadi, H. Najmabadi, 2017, Archives of Iranian medicine.

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

J. Uitto, A. Kariminejad, H. Najmabadi, 2016, The Journal of investigative dermatology.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

G. Ravenscroft, N. Laing, A. Kariminejad, 2017, Brain : a journal of neurology.

A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote

R. Hennekam, A. Kariminejad, H. Najmabadi, 2020, Clinical genetics.

CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2021, Archives of Iranian medicine.

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

K. Kahrizi, H. Najmabadi, P. Karimzadeh, 2022, Archives of Iranian medicine.

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

R. Hennekam, J. Uitto, A. Kariminejad, 2019, American journal of medical genetics. Part A.