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Publications by SHU-KAI QIAO

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Related publications

A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

Journal of Blood Disorders & Transfusion

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

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

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis

Turkish Journal of Pediatric Disease

English

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English

Polyneuropathy in a Young Belgian Patient: A Novel Heterozygous Mutation in theWNK1/HSN2gene

Neurology: Genetics

English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

English

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 Is Responsible for Hypertriglyceridemia of a Patient

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

English