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Therapy
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Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
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Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
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Møller RS,
Sadleir LG
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2022 Apr;63(4):974-991.
Epub 2022 Feb 18
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PMID: 35179230
Morlino S,
Nardella G,
Castellana S,
Micale L,
Copetti M,
Fusco C,
Castori M
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2021 Mar;185(3):955-965.
Epub 2020 Dec 27
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PMID: 33369135
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Reuter MS,
Musante L,
Hu H,
Diederich S,
Sticht H,
Ekici AB,
Uebe S,
Wienker TF,
Bartsch O,
Zechner U,
Oppitz C,
Keleman K,
Jamra RA,
Najmabadi H,
Schweiger S,
Reis A,
Kahrizi K
Am J Med Genet A
2014 Nov;164A(11):2753-63.
Epub 2014 Aug 14
doi: 10.1002/ajmg.a.36723.
PMID: 25125150
Zlotogora J
Hum Genet
2010 Nov;128(5):473-9.
Epub 2010 Sep 18
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PMID: 20852892