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Publications by Shirui Han

A Novel Homozygous Missense Mutation in BHLHA9 Causes Mesoaxial Synostotic Syndactyly With Phalangeal Reduction in a Pakistani Family

Human Genome Variation

Molecular Biology

English

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A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

English

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics

English

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Frontiers in Genetics

Molecular Medicine

English

Novel Missense Alteration in LRP4 Gene Underlies Cenani‐Lenz Syndactyly Syndrome in a Consanguineous Family

Journal of Gene Medicine

Molecular Medicine

Molecular Biology

English

Mesoaxial Complete Syndactyly and Synostosis With Hypoplastic Thumbs: An Unusual Combination or Homozygous Expression of Syndactyly Type I?

Journal of Medical Genetics

English

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

BioMed Research International

Molecular Biology

English

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

English

Association of a Homozygous GCK Missense Mutation With Mild Diabetes

Molecular genetics & genomic medicine

Molecular Biology

English

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

BMC Medical Genetics

English