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Publications by Nuha Alrayes

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

Journal of Gene Medicine

Molecular Medicine

Molecular Biology

English

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Cenani-Lenz Syndrome

English

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

Human Genome Variation

Molecular Biology

English

Mutations in HOXD13 Underlie Syndactyly Type v and a Novel Brachydactyly-Syndactyly Syndrome

American Journal of Human Genetics

English

Novel Missense Variants in the RNF213 Gene From a European Family With Moyamoya Disease

Human Genome Variation

Molecular Biology

English

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology

English

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

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

Journal of Human Genetics

English

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

Frontiers in Physiology

English

Deletion Mutation in BSCL2 Gene Underlies Congenital Generalized Lipodystrophy in a Pakistani Family

Diagnostic Pathology

Forensic Medicine

English