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Publications by Roxana Kariminejad

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English

An Autosomal Recessive Syndrome of Severe Mental Retardation, Cataract, Coloboma and Kyphosis Maps to the Pericentromeric Region of Chromosome 4

European Journal of Human Genetics

English

Related publications

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Early-Onset Autosomal Recessive Cerebellar Ataxia Associated With Retinal Dystrophy: New Human Hotfoot Phenotype Caused by Homozygous GRID2 Deletion

Genetics in Medicine

English

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

BMC Medical Genetics

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

English

Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Dominantly Inherited Distal Nemaline/Cap Myopathy Caused by a Large Deletion in the Nebulin Gene

Neuromuscular Disorders

English

A Novel Homozygous Mutation in CIITA Resulting in MHC Class II Deficiency in an Adult Patient

LymphoSign Journal

English

Deletion of the SIM1 Gene (6q16.2) in a Patient With a Prader-Willi-Like Phenotype

Journal of Medical Genetics

English

Characterization of a Novel Large Deletion Caused by Double-Stranded Breaks in 6-Bp Microhomologous Sequences of Intron 11 and 12 of the F13A1 Gene

Human Genome Variation

Molecular Biology

English