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Publications by Semih BOLU

A Novel p.Arg179Ser (C.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany With Biotidinase Deficiency in Case With Ambiguous External Genitalia

Konuralp Tıp Dergisi

2017

English

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

Case Reports in Genetics

2015

English

Molecular Epidemiology of C9 Deficiency Heterozygotes With an Arg95Stop Mutation of the C9 Gene in Japan

Journal of Human Genetics

Genetics

1999

English

Inconsistent Expression of Both Centromeres of a Dicentric Y Chromosome in a Child With Ambiguous External Genitalia.

Journal of Medical Genetics

Genetics

1978

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 Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene

Clinical Pediatric Endocrinology

English

Ambiguous Genitalia

English

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

Genetics and Molecular Research

English

A Nonsense Mutation in the 3-Hydroxy-3-Methylglutaryl-CoA Lyase Gene Produces Exon Skipping in Two Patients of Different Origin With 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Semih BOLU

A Novel p.Arg179Ser (C.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany With Biotidinase Deficiency in Case With Ambiguous External Genitalia

Related publications

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

Molecular Epidemiology of C9 Deficiency Heterozygotes With an Arg95Stop Mutation of the C9 Gene in Japan

Inconsistent Expression of Both Centromeres of a Dicentric Y Chromosome in a Child With Ambiguous External Genitalia.

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

A Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene

Ambiguous Genitalia

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

A Nonsense Mutation in the 3-Hydroxy-3-Methylglutaryl-CoA Lyase Gene Produces Exon Skipping in Two Patients of Different Origin With 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency