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Ballinger ML, Pinese M, Thomas DM.
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Grand K, Levitt Katz LE, Crowley TB, Moss E, Lessig M, Bamba V, Lord K, Zackai EH, Emanuel BS, Valverde K, McDonald-McGinn DM.
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Rossi M, Balint B, Millar Vernetti P, Bhatia KP, Merello M.
Mov Disord Clin Pract. 2018 Jul 3;5(4):373-382. doi: 10.1002/mdc3.12635. eCollection 2018 Jul-Aug. Review.
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Shaukat Q, Hertecant J, El-Hattab AW, Ali BR, Suleiman J.
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In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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Case Rep Obstet Gynecol. 2018 Sep 25;2018:7927362. doi: 10.1155/2018/7927362. eCollection 2018.
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Trends Cancer. 2018 Nov;4(11):718-728. doi: 10.1016/j.trecan.2018.09.002. Epub 2018 Sep 20. Review.
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du Souich C, Raymond FL, Grzeschik KH, Boerkoel CF.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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Casari G, Marconi R.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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Stricker S, Balmer C, Guzman R, Soleman J.
Childs Nerv Syst. 2018 Oct 22. doi: 10.1007/s00381-018-3990-8. [Epub ahead of print]
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Rabin R, Millan F, Cabrera-Luque J, Pappas J.
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Nathan N, Berdah L, Borensztajn K, Clement A.
Expert Rev Respir Med. 2018 Oct 22:1-10. doi: 10.1080/17476348.2018.1538795. [Epub ahead of print]
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Phillips L, Trivedi JR.
Neurotherapeutics. 2018 Oct 19. doi: 10.1007/s13311-018-00678-0. [Epub ahead of print] Review.
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In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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Yeowell HN, Steinmann B.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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Moosajee M, Hingorani M, Moore AT.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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Su XW, Simmons Z.
Semin Neurol. 2018 Oct;38(5):505-514. doi: 10.1055/s-0038-1667382. Epub 2018 Oct 15.
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Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH.
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Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.
N Engl J Med. 2018 Oct 10. doi: 10.1056/NEJMoa1714458. [Epub ahead of print]
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Marzin P, Cormier-Daire V.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
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2009 Sep 22 [updated 2018 Oct 11].
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