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Publications by Şebnem Çalkavur

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: C.734A>C

Balkan Medical Journal

English

A Newborn Case of “C” Subgroup Mismatch Presenting With Severe Hemolysis and Anemia

The Journal of Pediatric Research

English

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Donor Splice Site Mutation in the Apolipoprotein (Apo) C-Ii Gene (Apo C-IIHamburg) of a Patient With Apo C-Ii Deficiency.

Journal of Clinical Investigation

English

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

Journal of Medical Case Reports

English

Three Japanese Patients With Beta-Ketothiolase Deficiency Who Share a Mutation, C.431A>C (H144P) in ACAT1

Internal Medicine

Molecular Biology

English

A Novel C.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome

Journal of Clinical Sleep Medicine

Respiratory Medicine

English

Mutation Analysis of the Lamin a/C Gene (LMNA) Among Patients With Different Cardiomuscular Phenotypes

Journal of Medical Genetics

English

1034 a Hypotonic Infant With Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency; Homozygous Mutation of C.1015T>G in MTFHR Gene

Archives of Disease in Childhood

English

A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta

Genetics and Molecular Research

Molecular Biology

English

Intermediate McAd Deficiency Associated With a Novel Mutation of theACADMGene: C.1052C>T

Case Reports in Genetics

English

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Frontiers in Genetics

Molecular Medicine

English