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Publications by Miep H Helfrich

RANK-dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

Journal of Bone and Mineral Research

Sports Medicine

English

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

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

New Autosomal Recessive Faciodigitogenital Syndrome.

Journal of Medical Genetics

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

Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness

Journal of Medical Genetics

English

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

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

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Molecular genetics & genomic medicine

Molecular Biology

English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

English