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Diagnosis
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Therapy
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Brain
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Prognosis
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Brain
2023 Aug 1;146(8):3273-3288.
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Donoghue SE,
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J Pediatr Endocrinol Metab
2018 Mar 28;31(4):451-459.
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PMID: 29455191
Fraidakis MJ
Transl Psychiatry
2013 Sep 3;3(9):e302.
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PMID: 24002088Free PMC Article
Digilio MC,
Dallapiccola B
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Clinical prediction guides
Mattioli F,
Worpenberg L,
Li CT,
Ibrahim N,
Naz S,
Sharif S,
Firouzabadi SG,
Vosoogh S,
Saraeva-Lamri R,
Raymond L,
Trujillo C,
Guex N,
Antonarakis SE,
Ansar M,
Darvish H,
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Reymond A
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Saffari A,
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Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
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Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
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PMID: 36757831Free PMC Article
Musante L,
Faletra F,
Meier K,
Tomoum H,
Najarzadeh Torbati P,
Blair E,
North S,
Gärtner J,
Diegmann S,
Beiraghi Toosi M,
Ashrafzadeh F,
Ghayoor Karimiani E,
Murphy D,
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Am J Med Genet A
2022 Sep;188(9):2652-2665.
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PMID: 35670379Free PMC Article
Zalewski CK,
Sydlowski SA,
King KA,
Bianconi S,
Dang Do A,
Porter FD,
Brewer CC
Am J Med Genet A
2021 Apr;185(4):1131-1141.
Epub 2021 Feb 2
doi: 10.1002/ajmg.a.62087.
PMID: 33529473Free PMC Article