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Publications by P. Hilpela

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

English

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

Acta Orthopaedica

Sports Medicine

English

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