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Publications by J. A. Urtizberea

Mutations in the Nebulin Gene Associated With Autosomal Recessive Nemaline Myopathy

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

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

Neuromuscular Disorders

English

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English

Correction: Autosomal Recessive Lissencephaly With Cerebellar Hypoplasia Is Associated With Human RELN Mutations

Nature Genetics

English

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

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Founder Mutations in the Lipase H Gene in Families With Autosomal Recessive Woolly Hair/Hypotrichosis

Journal of Investigative Dermatology

Molecular Biology

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Newly Discovered Mutations in the GALNT3 Gene Causing Autosomal Recessive Hyperostosis-Hyperphosphatemia Syndrome

Acta Orthopaedica

Sports Medicine

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

A Rare Structural Myopathy: Nemaline Myopathy

Turk Pediatri Arsivi

English