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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: North Carolina Macular Dystrophy[original query]
Genetic linkage studies of a North Carolina macular dystrophy family.
Medicina (Kaunas, Lithuania) 2016 52 (3): 180-6.
Audere Mareta, Rutka Katrina, Inaskina Inna, Peculis Raitis, Sepetiene Svetlana, Valeina Sandra, L?ce Bai
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 .
Richul Oh, Se Joon Woo, Kwangsic J
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.
Molecular vision 2024 4 30 58-66.
Yuri Seo, Kwangsic Joo, Junwon Lee, Amber Diaz, Sohyun Jang, Timothy J Cherry, Kinga M Bujakowska, Jinu Han, Se Joon Woo, Kent W Sma
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