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Publications by Naoko Amano

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients With Congenital Hypopituitarism

Multidisciplinary

English

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Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene

Child Neurology

English

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics

English

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

European Journal of Endocrinology

English

Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation

Journal of Bone and Mineral Research

Sports Medicine

English

TBX1 Loss‑of‑function Mutation Contributes to Congenital Conotruncal Defects

Experimental and Therapeutic Medicine

Cancer Research

English

A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Molecular Syndromology

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Juvenile Onset Autoinflammatory Disease Due to a Novel Mutation in TNFAIP3 (A20)

Arthritis Research & Therapy

English

Slowly Progressive Encephalopathy With Hearing Loss Due to a Mutation in the mtDNA tRNALeu(CUN) Gene

Journal of the Neurological Sciences

English

Familial Chilblain Lupus Due to a Novel Mutation in TREX1 Associated With Aicardi–Goutie’res Syndrome

Pediatric Rheumatology

English