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Publications by Baijun Xu
A Heterozygous Duplication Variant of the HOXD13 Gene Caused Synpolydactyly Type 1 With Variable Expressivity in a Chinese Family
BMC Medical Genetics
Genetics
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A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia
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Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene
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Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts
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A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-Truncating Variant in the PCSK9 Gene
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Heterozygous Glucokinase Splicing Mutation - Identical Genotype With Variable Phenotype in a Single Family
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A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
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Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
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Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene
British Journal of Ophthalmology
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Assessment of the Contribution of the LOC387715 Gene Polymorphism in a Family With Exudative Age-Related Macular Degeneration and Heterozygous CFH Variant (Y402H)
Journal of Human Genetics
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