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Publications by O Akhan

A Large Turkish Kindred With Syndactyly Type II (Synpolydactyly). 2. Homozygous Phenotype?

Journal of Medical Genetics

English

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Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred

BMC Medical Genetics

English

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

Journal of Medical Genetics

English

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

English

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

American Journal of Human Genetics

English

Absence of Hypertensive Retinopathy in a Turkish Kindred With Autosomal Dominant Hypertension and Brachydactyly

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

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

Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study

Atherosclerosis

Cardiovascular Medicine

English

Craniosynostosis and Syndactyly: Expanding the 11q-- Chromosomal Deletion Phenotype.

Journal of Medical Genetics

English

A New Kindred With Pseudohypoaldosteronism Type II and a Novel Mutation (564D>H) in the Acidic Motif of the WNK4 Gene

Internal Medicine

English