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Publications by Reza Maroofian

Growth Disrupting Mutations in Epigenetic Regulatory Molecules Are Associated With Abnormalities of Epigenetic Aging

Genome Research

English

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

American Journal of Human Genetics

English

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects

Nature Communications

Molecular Biology

English

Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function

English

Unbalanced Segregation of a Paternal T(9;11)(p24.3;p15.4) Translocation Causing Familial Beckwith-Wiedemann Syndrome: A Case Report

BMC Medical Genomics

English

A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Molecular Syndromology

English

Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an ALS2 Founder Variant

Neurological Sciences

English