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Cherian A,
K P D,
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2023 Aug 1;36(4):292-301.
Epub 2023 May 24
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PMID: 37366140
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
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.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
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,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978