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Publications by Xianlong Shi

Heterozygous Mutation of C.3521C>T in COL1A1 May Cause Mild Osteogenesis Imperfecta/Ehlers-Danlos Syndrome in a Chinese Family

Intractable and Rare Diseases Research

English

Related publications

Splice Receptor-Site Mutation C.697-2a>g of the COL1A1 Gene in a Chinese Family With Osteogenesis Imperfecta

Intractable and Rare Diseases Research

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A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta

Genetics and Molecular Research

Molecular Biology

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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

Molecular Biology

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Ehlers-Danlos Syndrome and Periventricular Nodular Heterotopia in a Spanish Family With a Single FLNA Mutation

Journal of Medical Genetics

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

Human Genome Variation

Molecular Biology

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Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

American Journal of Human Genetics

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A Novel De Novo COL1A1 Mutation in a Thai Boy With Osteogenesis Imperfecta Born to Consanguineous Parents

Genetics and Molecular Biology

Molecular Biology

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Hypermobile Ehlers Danlos Syndrome

Balkan Medical Journal

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A Single Base Mutation in COL5A2 Causes Ehlers-Danlos Syndrome Type II.

Journal of Medical Genetics

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