Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M. Mahdi Motazacker

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American Journal of Human Genetics

English

Related publications

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

American Journal of Human Genetics

English

GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability

American Journal of Medical Genetics, Part A

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American Journal of Human Genetics

English

TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype

European Journal of Human Genetics

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

Genetics in Medicine

English