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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2085, doi. 10.1093/brain/awae055
By:
- Liu, James;
- He, Yi;
- Lwin, Cara;
- Han, Marina;
- Guan, Bin;
- Naik, Amelia;
- Bender, Chelsea;
- Moore, Nia;
- Huryn, Laryssa A;
- Sergeev, Yuri V;
- Qian, Haohua;
- Zeng, Yong;
- Dong, Lijin;
- Liu, Pinghu;
- Lei, Jingqi;
- Haugen, Carl J;
- Prasov, Lev;
- Shi, Ruifang;
- Dollfus, Hélène;
- Aristodemou, Petros
Publication type:
Article
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 828, doi. 10.1002/ajmg.c.31843
By:
- Goetz, Kerry E.;
- Reeves, Melissa J.;
- Gagadam, Shaina;
- Blain, Delphine;
- Bender, Chelsea;
- Lwin, Cara;
- Naik, Amelia;
- Tumminia, Santa J.;
- Hufnagel, Robert B.
Publication type:
Article
Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Published in:
Clinical Genetics, 2023, v. 103, n. 6, p. 699, doi. 10.1111/cge.14312
By:
- Faridi, Rabia;
- Yousaf, Rizwan;
- Gu, Shoujun;
- Inagaki, Sayaka;
- Turriff, Amy E.;
- Pelstring, Keith;
- Guan, Bin;
- Naik, Amelia;
- Griffith, Andrew J.;
- Adadey, Samuel Mawuli;
- Aboagye, Elvis Twumasi;
- Awandare, Gordon A.;
- Morell, Robert J.;
- Tsilou, Ekaterini;
- Noyes, Amanda G.;
- Sulmonte, Laura A. G.;
- Wonkam, Ambroise;
- Schrauwen, Isabelle;
- Leal, Suzanne M.;
- Azaiez, Hela
Publication type:
Article
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03842-7
By:
- Aguilera, Nancy;
- Liu, Tao;
- Bower, Andrew J.;
- Li, Joanne;
- Abouassali, Sarah;
- Lu, Rongwen;
- Giannini, John;
- Pfau, Maximilian;
- Bender, Chelsea;
- Smelkinson, Margery G.;
- Naik, Amelia;
- Guan, Bin;
- Schwartz, Owen;
- Volkov, Andrei;
- Dubra, Alfredo;
- Liu, Zhuolin;
- Hammer, Daniel X.;
- Maric, Dragan;
- Fariss, Robert;
- Hufnagel, Robert B.
Publication type:
Article
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03842-7
By:
- Aguilera, Nancy;
- Liu, Tao;
- Bower, Andrew J.;
- Li, Joanne;
- Abouassali, Sarah;
- Lu, Rongwen;
- Giannini, John;
- Pfau, Maximilian;
- Bender, Chelsea;
- Smelkinson, Margery G.;
- Naik, Amelia;
- Guan, Bin;
- Schwartz, Owen;
- Volkov, Andrei;
- Dubra, Alfredo;
- Liu, Zhuolin;
- Hammer, Daniel X.;
- Maric, Dragan;
- Fariss, Robert;
- Hufnagel, Robert B.
Publication type:
Article

Found: 5

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.