Etiology
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van Karnebeek CD,
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van den Born LI,
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Hayashi T,
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Ueno S,
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Kominami T,
Nao-I N,
Mawatari G,
Mizota A,
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Kondo M,
Kato K,
Sekiryu T,
Nakamura M,
Kusuhara S,
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Yamamoto S,
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Kondo H,
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Hum Mutat
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Cherascu I,
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Stalter E,
Wang K,
Datta P,
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Seo S,
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2022 Sep 1;15(9)
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Diagnosis
Suga A,
Yoshitake K,
Minematsu N,
Tsunoda K,
Fujinami K,
Miyake Y,
Kuniyoshi K,
Hayashi T,
Mizobuchi K,
Ueno S,
Terasaki H,
Kominami T,
Nao-I N,
Mawatari G,
Mizota A,
Shinoda K,
Kondo M,
Kato K,
Sekiryu T,
Nakamura M,
Kusuhara S,
Yamamoto H,
Yamamoto S,
Mochizuki K,
Kondo H,
Matsushita I,
Kameya S,
Fukuchi T,
Hatase T,
Horiguchi M,
Shimada Y,
Tanikawa A,
Yamamoto S,
Miura G,
Ito N,
Murakami A,
Fujimaki T,
Hotta Y,
Tanaka K,
Iwata T
Hum Mutat
2022 Dec;43(12):2251-2264.
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Therapy
Chan CK,
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Prognosis
Balfoort BM,
Van Den Broeck F,
Brands MM,
van Karnebeek CD,
Bergen AA,
van den Born LI,
Houtkooper RH,
Wagenmakers MAEM,
De Zaeytijd J,
Leroy BP,
Boon CJF,
Diederen RMH
Graefes Arch Clin Exp Ophthalmol
2024 Nov;262(11):3589-3596.
Epub 2024 Jun 7
doi: 10.1007/s00417-024-06540-8.
PMID: 38847892Free PMC Article
Biswas P,
Borooah S,
Matsui H,
Voronchikhina M,
Zhou J,
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2021 Feb;42(2):189-199.
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Cold Spring Harb Mol Case Stud
2018 Aug;4(4)
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PMID: 29848554Free PMC Article
Clinical prediction guides
Shen C,
Yang Q,
Chen K,
Ma H,
Wang X,
Tong J,
Shen Y,
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Cell Commun Signal
2024 Jul 11;22(1):359.
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Chekuri A,
Currall B,
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Sci Rep
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Suga A,
Yoshitake K,
Minematsu N,
Tsunoda K,
Fujinami K,
Miyake Y,
Kuniyoshi K,
Hayashi T,
Mizobuchi K,
Ueno S,
Terasaki H,
Kominami T,
Nao-I N,
Mawatari G,
Mizota A,
Shinoda K,
Kondo M,
Kato K,
Sekiryu T,
Nakamura M,
Kusuhara S,
Yamamoto H,
Yamamoto S,
Mochizuki K,
Kondo H,
Matsushita I,
Kameya S,
Fukuchi T,
Hatase T,
Horiguchi M,
Shimada Y,
Tanikawa A,
Yamamoto S,
Miura G,
Ito N,
Murakami A,
Fujimaki T,
Hotta Y,
Tanaka K,
Iwata T
Hum Mutat
2022 Dec;43(12):2251-2264.
Epub 2022 Nov 7
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PMID: 36284460
Satue M,
Fuentes JL,
Vilades E,
Orduna E,
Vicente MJ,
Cordon B,
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Curr Eye Res
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Epub 2022 Apr 29
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PMID: 35438020
Biswas P,
Borooah S,
Matsui H,
Voronchikhina M,
Zhou J,
Zawaydeh Q,
Raghavendra PB,
Ferreyra H,
Riazuddin SA,
Wahlin K,
Frazer KA,
Ayyagari R
Hum Mutat
2021 Feb;42(2):189-199.
Epub 2020 Dec 13
doi: 10.1002/humu.24146.
PMID: 33252167Free PMC Article