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Publications by Çiğdem Seher Kasapkara

BCS1L Gene Mutation Causing GRACILE Syndrome: Case Report

Intensive Care Medicine

English

Siblings With Ethylmalonic Encephalopathy: Case Report

The Journal of Pediatric Research

English

Related publications

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics

Molecular Medicine

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

Depilation Position Causing Wartenberg Syndrome: Case Report

Turkiye Klinikleri Journal of Case Reports

English

Hyaline Fibromatosis Syndrome With Mutation C.1074delT of the CMG2 Gene: A Case Report

Journal of Medical Case Reports

English

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

English

Cervical Epidural Haematoma Causing Brown-Sequard Syndrome: A Case Report

Journal of Orthopaedic Surgery

English

A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report

BMC Medical Genetics

English

Gene Repair of an Usher Syndrome Causing Mutation by Zinc-Finger Nuclease Mediated Homologous Recombination

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Case Report: A Case of PAI-1 4g/5g Heterozygosity Causing Budd-Chiari Syndrome

Molecular Biology

English