Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Ariana Kariminejad

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

American Journal of Human Genetics

English

Brief Report: Peripheral Osteolysis in Adults Linked toASAH1(Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Arthritis and Rheumatology

English

Megalencephalic Leukoencephalopathy With Subcortical Cysts

English

Recessive Mutation in Tetraspanin CD151 Causes Kindler Syndrome-Like Epidermolysis Bullosa With Multi-Systemic Manifestations Including Nephropathy

Molecular Biology

English

Truncating CHRNG Mutations Associated With Interfamilial Variability of the Severity of the Escobar Variant of Multiple Pterygium Syndrome

English

Lethal Multiple Pterygium Syndrome, the Extreme End of the RYR1 Spectrum

BMC Musculoskeletal Disorders

Sports Medicine

English

Juvenile Nephronophthisis and Dysthyroidism: A Rare Association

CEN Case Reports

English