Etiology
Chee JM,
Lanoue L,
Clary D,
Higgins K,
Bower L,
Flenniken A,
Guo R,
Adams DJ,
Bosch F,
Braun RE,
Brown SDM,
Chin HG,
Dickinson ME,
Hsu CW,
Dobbie M,
Gao X,
Galande S,
Grobler A,
Heaney JD,
Herault Y,
de Angelis MH,
Mammano F,
Nutter LMJ,
Parkinson H,
Qin C,
Shiroishi T,
Sedlacek R,
Seong JK,
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International Mouse Phenotyping Consortium,
Brooks B,
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BMC Biol
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Priolo M,
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Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
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Zenker M,
Hennekam RC
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Diagnosis
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
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Dufresne CR,
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Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC
Hum Mutat
2018 Sep;39(9):1226-1237.
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J Pediatr Surg
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Garavelli L,
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Orphanet J Rare Dis
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Therapy
Bateman RJ,
Smith J,
Donohue MC,
Delmar P,
Abbas R,
Salloway S,
Wojtowicz J,
Blennow K,
Bittner T,
Black SE,
Klein G,
Boada M,
Grimmer T,
Tamaoka A,
Perry RJ,
Turner RS,
Watson D,
Woodward M,
Thanasopoulou A,
Lane C,
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Fontoura P,
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GRADUATE I and II Investigators and the Gantenerumab Study Group
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Warady BA,
Pergola PE,
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Andreoli S,
Appel GB,
Bangalore S,
Block GA,
Chapman AB,
Chin MP,
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Goldsberry A,
Iijima K,
Inker LA,
Kashtan CE,
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Mariani LH,
Meyer CJ,
Nozu K,
O'Grady M,
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Devinsky O,
Patel AD,
Thiele EA,
Wong MH,
Appleton R,
Harden CL,
Greenwood S,
Morrison G,
Sommerville K;
GWPCARE1 Part A Study Group
Neurology
2018 Apr 3;90(14):e1204-e1211.
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Devinsky O,
Cross JH,
Laux L,
Marsh E,
Miller I,
Nabbout R,
Scheffer IE,
Thiele EA,
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Cannabidiol in Dravet Syndrome Study Group
N Engl J Med
2017 May 25;376(21):2011-2020.
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PMID: 28538134
Prognosis
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
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PMID: 37761804Free PMC Article
Ryan TD,
Chin C
Semin Pediatr Surg
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J Contemp Dent Pract
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Joint Bone Spine
2000;67(2):86-93.
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Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
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Poling MI,
Dufresne CR,
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Semin Pediatr Surg
2017 Aug;26(4):206-212.
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