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Publications by N. Hekim
1034 a Hypotonic Infant With Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency; Homozygous Mutation of C.1015T>G in MTFHR Gene
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Related publications
Anesthetic Management of a Parturient With Methylene Tetrahydrofolate Reductase (MTHFR) Mutations: A Case Report
The Journal of Medical Research
707 Homocystinuria Due to Methylene Tetrahydrofolate Re-Ductase (Mthfr) Deficiency: Response to a High-Protein Diet
Pediatric Research
Child Health
Pediatrics
Perinatology
Methylene-Tetrahydrofolate Reductase Contributes to Allergic Airway Disease
PLoS ONE
Multidisciplinary
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant Without Obvious Maternal Virilisation
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Homozygous R396H Mutation of the RAG1 Gene in a Saudi Infant With Omenn's Syndrome: A Case Report
Cases Journal
Nucleotide Sequence ofmetF, theE. Colistructural Gene for 5–10 Methylene Tetrahydrofolate Reductase and of Its Control Region
Nucleic Acids Research
Genetics
A Homozygous Nonsense Mutation (C.214C->A) in the Biliverdin Reductase Alpha Gene (BLVRA) Results in Accumulation of Biliverdin During Episodes of Cholestasis
Journal of Medical Genetics
Genetics
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: C.734A>C
Balkan Medical Journal
Medicine
Determination of Methyl Tetrahydrofolate Reductase, TEAD2 and PAX3 Gene Polymorphisms in Patients With Spina Bifida
Cocuk Cerrahisi Dergisi
Child Health
Surgery
Pediatrics
Perinatology