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Publications by Yangwei Li

Identification of a Novel Nonsense Mutation in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1: A Case Report

BMC Medical Genetics

English

Related publications

A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome

Multidisciplinary

English

Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

International Journal of Medical Sciences

English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

English

A Case of Mohr-Tranebjærg Syndrome Diagnosed in a Patient With X-Linked Agammaglobulinemia

Journal of Allergy and Clinical Immunology

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

A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report

BMC Medical Genetics

English

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

Journal of Human Genetics

English

A Novel BRCA1 Mutation in a Patient With Breast and Ovarian Cancer: A Case Report

Oncology Letters

Cancer Research

English

Nonsense Mutation of Islet-1 Gene (Q310X) Found in a Type 2 Diabetic Patient With a Strong Family History

Internal Medicine

English