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Publications by Che Kang Lim

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

Allergy, Asthma and Clinical Immunology

English

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Progranulin Mutation Analysis: Identification of One Novel Mutation in Exon 12 Associated With Frontotemporal Dementia

Neurobiology of Aging

Aging

Gerontology

Developmental Biology

English

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature Among Iranian Long QT Families

Iranian Biomedical Journal

Biochemistry

Clinical Biochemistry

Genetics

Molecular Biology

2019

English

Epstein-Barr Virus-Associated Γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation

Frontiers in Pediatrics

English

Identification and Functional Characterization of a Cytoplasmic Nucleophosmin Leukaemic Mutant Generated by a Novel Exon-11 NPM1 Mutation

English

MEF2C-related Epilepsy: Delineating the Phenotypic Spectrum From a Novel Mutation and Literature Review

Seizure : the journal of the British Epilepsy Association

Medicine

Neurology

2019

English

A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

BMC Medical Genetics

Genetics

2019

English

A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature

Clinical 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 Novel IL2RG Mutation Associated With Maternal T Lymphocyte Engraftment in a Patient With Severe Combined Immunodeficiency

Journal of Human Genetics

Genetics

2006

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Che Kang Lim

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

Related publications

Progranulin Mutation Analysis: Identification of One Novel Mutation in Exon 12 Associated With Frontotemporal Dementia

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature Among Iranian Long QT Families

Epstein-Barr Virus-Associated Γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation

Identification and Functional Characterization of a Cytoplasmic Nucleophosmin Leukaemic Mutant Generated by a Novel Exon-11 NPM1 Mutation

MEF2C-related Epilepsy: Delineating the Phenotypic Spectrum From a Novel Mutation and Literature Review

A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature

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 Novel IL2RG Mutation Associated With Maternal T Lymphocyte Engraftment in a Patient With Severe Combined Immunodeficiency