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

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2011English

New Autosomal Recessive Faciodigitogenital Syndrome.

Journal of Medical Genetics
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1988English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics
Genetics
2012English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics
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2011English

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

Journal of Medical Genetics
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2001English

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

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2020English

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
1999English

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

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

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

Scientific Reports
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