Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Diana H. Lee

Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature

Case Reports in Medicine

English

Related publications

Theoretical Approach to Principles of Management: Literature Review

Serbian Journal of Engineering Management

English

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Frontiers in Neurology

English

Neglected Hip Dislocation: An Unusual Presentation, Its Management and Review of the Literature

Strategies in Trauma and Limb Reconstruction

Sports Medicine

English

Nocardia Scleritis—clinical Presentation and Management: A Report of Three Cases and Review of Literature

Journal of Ophthalmic Inflammation and Infection

Infectious Diseases

English

Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene

Genetics and Molecular Research

Molecular Biology

English

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Allergy, Asthma and Clinical Immunology

Respiratory Medicine

English

Pfeiffer Syndrome: Report of a Family and Review of the Literature.

Journal of Medical Genetics

English

Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation

American Journal of Human Genetics

English

BIGH3 Mutation in a Bangladeshi Family With a Variable Phenotype of LCDI

Sensory Systems

English