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Publications by Ehsan Ghayoor Karimiani

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

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

JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma

Indian Journal of Hematology and Blood Transfusion

English

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

English