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Publications by Azadeh Moshtagh

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

Clinical Case Reports

English

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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