Etiology
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Shea CR,
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Stein SL,
Rosenblatt AE
Pediatr Dermatol
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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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Int J Pediatr Otorhinolaryngol
2014 Jun;78(6):899-904.
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Orphanet J Rare Dis
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Spear SL,
Kassan M
Clin Plast Surg
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Diagnosis
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
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PMID: 30630514Free PMC Article
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.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
PMID: 29897170Free PMC Article
Radhakrishnan J,
Bean J,
Piazza DJ,
Chin AC
J Pediatr Surg
2014 Aug;49(8):1326-31.
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PMID: 25092100
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
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PMID: 17958891Free PMC Article
Stanton DC
Facial Plast Surg
2003 Feb;19(1):75-86.
doi: 10.1055/s-2003-39130.
PMID: 12739183
Therapy
Warady BA,
Pergola PE,
Agarwal R,
Andreoli S,
Appel GB,
Bangalore S,
Block GA,
Chapman AB,
Chin MP,
Gibson KL,
Goldsberry A,
Iijima K,
Inker LA,
Kashtan CE,
Knebelmann B,
Mariani LH,
Meyer CJ,
Nozu K,
O'Grady M,
Rheault MN,
Silva AL,
Stenvinkel P,
Torra R,
Chertow GM
Clin J Am Soc Nephrol
2022 Dec;17(12):1763-1774.
Epub 2022 Nov 21
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PMID: 36411058Free PMC Article
van den Munckhof B,
Arzimanoglou A,
Perucca E,
van Teeseling HC,
Leijten FSS,
Braun KPJ,
Jansen FE;
RESCUE ESES study group
Trials
2020 Nov 23;21(1):957.
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PMID: 33228736Free PMC Article
Detsky ME,
Jivraj N,
Adhikari NK,
Friedrich JO,
Pinto R,
Simel DL,
Wijeysundera DN,
Scales DC
JAMA
2019 Feb 5;321(5):493-503.
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PMID: 30721300
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.
Epub 2018 Mar 14
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PMID: 29540584Free PMC Article
Devinsky O,
Cross JH,
Laux L,
Marsh E,
Miller I,
Nabbout R,
Scheffer IE,
Thiele EA,
Wright S;
Cannabidiol in Dravet Syndrome Study Group
N Engl J Med
2017 May 25;376(21):2011-2020.
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PMID: 28538134
Prognosis
Ryan TD,
Chin C
Semin Pediatr Surg
2017 Aug;26(4):206-212.
Epub 2017 Jul 26
doi: 10.1053/j.sempedsurg.2017.07.012.
PMID: 28964475
Alwadei S
J Contemp Dent Pract
2017 Mar 1;18(3):250-256.
PMID: 28258274
Guo L,
Zhao H,
Pei YH,
He QR,
Li WI,
Zhang T,
Zheng XY,
Zhou R,
Xie J
Chin Med J (Engl)
2011 Feb;124(3):374-9.
PMID: 21362336
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
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PMID: 17958891Free PMC Article
Maillefert JF,
Gazet-Maillefert MP,
Tavernier C,
Farge P
Joint Bone Spine
2000;67(2):86-93.
PMID: 10769099
Clinical prediction guides
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article
Ryan TD,
Chin C
Semin Pediatr Surg
2017 Aug;26(4):206-212.
Epub 2017 Jul 26
doi: 10.1053/j.sempedsurg.2017.07.012.
PMID: 28964475
Guo L,
Zhao H,
Pei YH,
He QR,
Li WI,
Zhang T,
Zheng XY,
Zhou R,
Xie J
Chin Med J (Engl)
2011 Feb;124(3):374-9.
PMID: 21362336
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
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PMID: 17958891Free PMC Article
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article