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Publications by Sunita Bijarnia‐Mahay

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

JIMD Reports

English

Related publications

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

Clinical Diagnostic Laboratory Immunology

2003

English

A Functional Intronic Variant in the Tyrosine Hydroxylase (TH) Gene Confers Risk of Essential Hypertension in the Northern Chinese Han Population

Clinical Science

Medicine

2008

English

Tyrosine Hydroxylase and DOPA Decarboxylase Gene Variants in Personality Traits

Neuropsychobiology

Psychiatry

Mental Health

Physiological Psychology

Neuropsychology

Biological Psychiatry

2009

English

17 Hydroxylase Deficiency in an Adolescent Girl

English

Deletion of the 21-Hydroxylase Gene in Congenital Adrenal Hyperplasia

English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

Medicine

2019

English

Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

Molecular Medicine Reports

English

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics

Genetics

2000

English

The Combination of a Novel 2 Bp Deletion Mutation and p.D63H in CYP11B1 Cause Congenital Adrenal Hyperplasia Due to Steroid 11β-Hydroxylase Deficiency

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Sunita Bijarnia‐Mahay

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

Related publications

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

A Functional Intronic Variant in the Tyrosine Hydroxylase (TH) Gene Confers Risk of Essential Hypertension in the Northern Chinese Han Population

Tyrosine Hydroxylase and DOPA Decarboxylase Gene Variants in Personality Traits

17 Hydroxylase Deficiency in an Adolescent Girl

Deletion of the 21-Hydroxylase Gene in Congenital Adrenal Hyperplasia

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

The Combination of a Novel 2 Bp Deletion Mutation and p.D63H in CYP11B1 Cause Congenital Adrenal Hyperplasia Due to Steroid 11&beta;-Hydroxylase Deficiency

The Combination of a Novel 2 Bp Deletion Mutation and p.D63H in CYP11B1 Cause Congenital Adrenal Hyperplasia Due to Steroid 11β-Hydroxylase Deficiency