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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Retinitis Pigmentosa and HGSNAT[original query]
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep .
Van Cauwenbergh Caroline, Van Schil Kristof, Cannoodt Robrecht, Bauwens Miriam, Van Laethem Thalia, De Jaegere Sarah, Steyaert Wouter, Sante Tom, Menten Björn, Leroy Bart P, Coppieters Frauke, De Baere Elfri
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Genes 2017 10 8 (10): .
Comander Jason, Weigel-DiFranco Carol, Maher Matthew, Place Emily, Wan Aliete, Harper Shyana, Sandberg Michael A, Navarro-Gomez Daniel, Pierce Eric
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 631-643.
Schiff Elena R, Daich Varela Malena, Robson Anthony G, Pierpoint Karen, Ba-Abbad Rola, Nutan Savita, Zein Wadih M, Ullah Ehsan, Huryn Laryssa A, Tuupanen Sari, Mahroo Omar A, Michaelides Michel, Burke Derek, Harvey Katie, Arno Gavin, Hufnagel Robert B, Webster Andrew
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