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Publications by P. Nilyanimit

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

Related publications

Two Unrelated Patients With Rare Crigler-Najjar Syndrome Type I: Two Novel Mutations and a Patient With Loss of Heterozygosity of UGT1A1 Gene

Journal of Zhejiang University: Science B

English

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Drug Metabolism and Disposition

Pharmacology

Pharmaceutical Science

2018

English

Identification of a Novel Deletion in UDP-glucuronosyltransferase Gene in a Patient With Crigler–Najjar Syndrome Type I

Blood Cells, Molecules, and Diseases

English

A 2-Base Insertion in Exon 5 Is a Common Mutation of the TP53 Gene in Dogs With Histiocytic Sarcoma

Journal of Veterinary Medical Science

Veterinary

2017

English

Mutation in Exon 13 of the TCOF1 Gene in Patient With Treacher Collins Syndrome

Acta Fytotechnica et Zootechnica

English

A Novel Mutation (A886g) in Exon 5 of FGFR2 in Members of a Family With Crouzon Phenotype and Plagiocephaly.

Journal of Medical Genetics

Genetics

1997

English

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Allergy, Asthma and Clinical Immunology

English

An Exon 53 Frameshift Mutation in CUBN Abrogates Cubam Function and Causes Imerslund-Gräsbeck Syndrome in Dogs

Molecular Genetics and Metabolism

English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by P. Nilyanimit

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

Related publications

Two Unrelated Patients With Rare Crigler-Najjar Syndrome Type I: Two Novel Mutations and a Patient With Loss of Heterozygosity of UGT1A1 Gene

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Identification of a Novel Deletion in UDP-glucuronosyltransferase Gene in a Patient With Crigler–Najjar Syndrome Type I

A 2-Base Insertion in Exon 5 Is a Common Mutation of the TP53 Gene in Dogs With Histiocytic Sarcoma

Mutation in Exon 13 of the TCOF1 Gene in Patient With Treacher Collins Syndrome

A Novel Mutation (A886g) in Exon 5 of FGFR2 in Members of a Family With Crouzon Phenotype and Plagiocephaly.

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

An Exon 53 Frameshift Mutation in CUBN Abrogates Cubam Function and Causes Imerslund-Gräsbeck Syndrome in Dogs

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1