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Publications by Alina Kurolap

A Missense Mutation in ALDH1A3 Causes Isolated Microphthalmia/Anophthalmia in Nine Individuals From an Inbred Muslim Kindred

European Journal of Human Genetics

English

Related publications

Anophthalmia and Microphthalmia

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

NovelSOX2mutations and Genotypeâphenotype Correlation in Anophthalmia and Microphthalmia

American Journal of Medical Genetics, Part A

English

Genes Related to Inherited Microphthalmia and Anophthalmia

Gaceta Medica de Mexico

English

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

BioMed Research International

Molecular Biology

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

Functional Vision and Quality of Life in Children With Microphthalmia/Anophthalmia/Coloboma—a Cross-Sectional Study

Journal of AAPOS

English

A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome

American Journal of Medical Genetics, Part A

English

National Study of Microphthalmia, Anophthalmia, and Coloboma (MAC) in Scotland: Investigation of Genetic Aetiology

Journal of Medical Genetics

English

Rare LPL Gene Missense Mutation in an Infant With Hypertriglyceridemia

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English