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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. Helbig KL, et al. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. Helbig KL, et al. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Development and perceptions of an academic success tool for pharmacy students.
Pitts MH, Smith NJ, Bates JA, Stevenson R, Fohner AM, Moser HM, Pahl B, Chen AMH. Pitts MH, et al. Among authors: smith nj. Res Social Adm Pharm. 2021 Aug 29:S1551-7411(21)00316-8. doi: 10.1016/j.sapharm.2021.08.012. Online ahead of print. Res Social Adm Pharm. 2021. PMID: 34483081
The novel Mechanical Ventilator Milano for the COVID-19 pandemic.
Abba A, Accorsi C, Agnes P, Alessi E, Amaudruz P, Annovi A, Desages FA, Back S, Badia C, Bagger J, Basile V, Batignani G, Bayo A, Bell B, Beschi M, Biagini D, Bianchi G, Bicelli S, Bishop D, Boccali T, Bombarda A, Bonfanti S, Bonivento WM, Bouchard M, Breviario M, Brice S, Brown R, Calvo-Mozota JM, Camozzi L, Camozzi M, Capra A, Caravati M, Carlini M, Ceccanti A, Celano B, Cela Ruiz JM, Charette C, Cogliati G, Constable M, Crippa C, Croci G, Cudmore S, Dahl CE, Dal Molin A, Daley M, Di Guardo C, D'Avenio G, Davignon O, Del Tutto M, De Ruiter J, Devoto A, Diaz Gomez Maqueo P, Di Francesco F, Dossi M, Druszkiewicz E, Duma C, Elliott E, Farina D, Fernandes C, Ferroni F, Finocchiaro G, Fiorillo G, Ford R, Foti G, Fournier RD, Franco D, Fricbergs C, Gabriele F, Galbiati C, Garcia Abia P, Gargantini A, Giacomelli L, Giacomini F, Giacomini F, Giarratana LS, Gillespie S, Giorgi D, Girma T, Gobui R, Goeldi D, Golf F, Gorel P, Gorini G, Gramellini E, Grosso G, Guescini F, Guetre E, Hackman G, Hadden T, Hawkins W, Hayashi K, Heavey A, Hersak G, Hessey N, Hockin G, Hudson K, Ianni A, Ienzi C, Ippolito V, James CC, Jillings C, Kendziora C, Khan S, Kim E, King M, King S, Kittmer A, Kochanek I, Kowalkowski J, Krücken R, Kushoro M, Kuula S, Laclaustra M, Leblond G, Lee L, Lennarz A, Leyton M, Li X, Liimatainen P, Lim C, Lindner T, Lomonaco T, Lu P, Lubna R, Lukhanin GA, Luzón G, MacDonald M, Magni G, Maharaj R, Manni S, Mapelli C, Margetak P, Martin L, Martin S, Martínez M, Massacret N, McClurg P, McDonald AB, Meazzi E, Migalla R, Mohayai T, Tosatti LM, Monzani G, Moretti C, Morrison B, Mountaniol M, Muraro A, Napoli P, Nati F, Natzke CR, Noble AJ, Norrick A, Olchanski K, Ortiz de Solorzano A, Padula F, Pallavicini M, Palumbo I, Panontin E, Papini N, Parmeggiano L, Parmeggiano S, Patel K, Patel A, Paterno M, Pellegrino C, Pelliccione P, Pesudo V, Pocar A, Pope A, Pordes S, Prelz F, Putignano O, Raaf JL, Ratti C, Razeti M, Razeto A, Reed D, Refsgaard J, Reilly T, Renshaw A, Retriere F, Riccobene E, Rigamonti D, Rizzi A, Rode J, Romualdez J, Russel L, Sablone D, Sala S, Salomoni D, Salvo P, Sandoval A, Sansoucy E, Santorelli R, Savarese C, Scapparone E, Schaubel T, Scorza S, Settimo M, Shaw B, Shawyer S, Sher A, Shi A, Skensved P, Slutsky A, Smith B, Smith NJT, Stenzler A, Straubel C, Stringari P, Suchenek M, Sur B, Tacchino S, Takeuchi L, Tardocchi M, Tartaglia R, Thomas E, Trask D, Tseng J, Tseng L, VanPagee L, Vedia V, Velghe B, Viel S, Visioli A, Viviani L, Vonica D, Wada M, Walter D, Wang H, Wang MHLS, Westerdale S, Wood D, Yates D, Yue S, Zambrano V. Abba A, et al. Among authors: smith njt. Phys Fluids (1994). 2021 Mar;33(3):037122. doi: 10.1063/5.0044445. Epub 2021 Mar 23. Phys Fluids (1994). 2021. PMID: 33897243 Free PMC article.
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