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Publications by Shuhan Si
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
BMC Medical Genetics
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Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene
Genetics and Molecular Research
Medicine
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Molecular Biology
Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts
Molecular genetics & genomic medicine
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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
Endocrine Abstracts
A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Annals of Pediatric Endocrinology and Metabolism
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
Hematology
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
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
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
Genetics
