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Therapy
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Kuzeljevic B,
Yu AY,
Hudson M,
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Xu Y,
Dionne-Laporte A,
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Liang P,
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Zhang X,
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Ramírez N,
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van der Sluijs PJ,
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Dingemans AJM,
Parbhoo K,
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Dempsey JC,
Doherty D,
den Dunnen JT,
Gerkes EH,
Milller IM,
Moortgat S,
Regier DS,
Ruivenkamp CAL,
Schmalz B,
Smol T,
Stuurman KE,
Vincent-Delorme C,
de Vries BBA,
Sadikovic B,
Hickey SE,
Rosenfeld JA,
Maystadt I,
Santen GWE
Genes (Basel)
2021 Aug 20;12(8)
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PMID: 34440449Free PMC Article
Parenti I,
Lehalle D,
Nava C,
Torti E,
Leitão E,
Person R,
Mizuguchi T,
Matsumoto N,
Kato M,
Nakamura K,
de Man SA,
Cope H,
Shashi V;
Undiagnosed Diseases Network,
Friedman J,
Joset P,
Steindl K,
Rauch A,
Muffels I,
van Hasselt PM,
Petit F,
Smol T,
Le Guyader G,
Bilan F,
Sorlin A,
Vitobello A,
Philippe C,
van de Laar IMBH,
van Slegtenhorst MA,
Campeau PM,
Au PYB,
Nakashima M,
Saitsu H,
Yamamoto T,
Nomura Y,
Louie RJ,
Lyons MJ,
Dobson A,
Plomp AS,
Motazacker MM,
Kaiser FJ,
Timberlake AT,
Fuchs SA,
Depienne C,
Mignot C
Hum Genet
2021 Jul;140(7):1109-1120.
Epub 2021 May 4
doi: 10.1007/s00439-021-02283-2.
PMID: 33944996Free PMC Article
Callaghan DB,
Rogic S,
Tan PPC,
Calli K,
Qiao Y,
Baldwin R,
Jacobson M,
Belmadani M,
Holmes N,
Yu C,
Li Y,
Li Y,
Kurtzke FE,
Kuzeljevic B,
Yu AY,
Hudson M,
Mcaughton AJM,
Xu Y,
Dionne-Laporte A,
Girard S,
Liang P,
Separovic ER,
Liu X,
Rouleau G,
Pavlidis P,
Lewis MES
Clin Genet
2019 Sep;96(3):199-206.
Epub 2019 May 30
doi: 10.1111/cge.13556.
PMID: 31038196
Zhang X,
Lai TY,
Chiang SW,
Tam PO,
Liu DT,
Chan CK,
Pang CP,
Zhao C,
Chen LJ
Eye (Lond)
2013 Oct;27(10):1204-13.
Epub 2013 Jul 26
doi: 10.1038/eye.2013.137.
PMID: 23887765Free PMC Article