학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A
American Journal of Human Genetics. 108(1)
Academic Journal
Chambers, Christina D; Coles, Claire; Kable, Julie; Akshoomoff, Natacha; Xu, Ronghui; Zellner, Jennifer A; Honerkamp‐Smith, Gordon; Manning, Melanie A; Adam, Margaret P; Jones, Kenneth Lyons
Alcoholism Clinical and Experimental Research. 43(12)
Academic Journal
Carter, Lauren B; Battaglia, Agatino; Cherry, Athena; Manning, Melanie A; Ruzhnikov, Maura RZ; Bird, Lynne M; Dowsett, Leah; Graham, John M; Alkuraya, Fowzan S; Hashem, Mais; Dinulos, Mary Beth; Vallee, Stephanie; Adam, Margaret P; Glass, Ian; Beck, Anita E; Stevens, Cathy A; Zackai, Elaine; McDougall, Carey; Keena, Beth; Peron, Angela; Vignoli, Aglaia; Seaver, Laurie H; Slavin, Thomas P; Hudgins, Louanne
American Journal of Medical Genetics Part A. 179(8)
Academic Journal
Chambers, Christina D; Johnson, Diana L; Xu, Ronghui; Luo, Yunjun; Lopez-Jimenez, Janina; Adam, Margaret P; Braddock, Stephen R; Robinson, Luther K; Vaux, Keith; Lyons Jones, Kenneth; OTIS Collaborative Research Group
PloS one. 14(10)
Academic Journal
Hoyme, H Eugene; Kalberg, Wendy O; Elliott, Amy J; Blankenship, Jason; Buckley, David; Marais, Anna-Susan; Manning, Melanie A; Robinson, Luther K; Adam, Margaret P; Abdul-Rahman, Omar; Jewett, Tamison; Coles, Claire D; Chambers, Christina; Jones, Kenneth L; Adnams, Colleen M; Shah, Prachi E; Riley, Edward P; Charness, Michael E; Warren, Kenneth R; May, Philip A
Pediatrics. 138(2)
Periodical
Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Fazio, Grazia; Bugarin, Cristina; Quadri, Manuel; Rebellato, Stefano; Chinello, Clizia; Pagani, Lisa; Malighetti, Federica; González Gutiérrez-Solana, Luis; Denti, Vanna; Emam Mousavi, Fatemeh; Raspall-Chaure, Miquell; Andrea, Martin-Nalda; Barredo, Estibaliz; Adams, David; Melanie, O'Leary; D'Souza, Precilla; Macnamara, Ellen; Rosenzweig, Sergio; Kuehn, Hye Sun; Stoddard, Jennifer; Mefford, Heather C; Mandrile, Giorgia; Pavinato, Lisa; Brusco, Alfredo; Velez Santamaria, Patricia Valentina; Pujol, Aurora; Michaud, Vincent; Roubertie, Agathe; Nelson, Zoe; Adam, Margaret P; Lo, Bernice; Uhlig, Holm; Salter, Claire G; Baple, Emma; Crosby, Andrew H; Bhatia, Sanil; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Giovanni; Piazza, Rocco; Biondi, Andrea; Barberis, Matteo
Blood; November 2023, Vol. 142 Issue: 1, Number 1 Supplement 1 p153-153, 1p
Periodical
Adam, Margaret P; Banka, Siddharth; Bjornsson, Hans T; Bodamer, Olaf; Chudley, Albert E; Harris, Jaqueline; Kawame, Hiroshi; Lanpher, Brendan C; Lindsley, Andrew W; Merla, Giuseppe; Miyake, Noriko; Okamoto, Nobuhiko; Stumpel, Constanze T; Niikawa, Norio
Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 2 p89-95, 7p
Electronic Resource
Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, Jill; Cocco, Isabella; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Dupont Garcia, Juliette; Gastaldi, Roberto; Giordano, Lucio; Guala, Andrea; Hoei-Hansen, Christina; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Møller, Rikke S; Muschke, Petra; Otelli, Valeria; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Marín Reina, Purificación; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Simonte, Graziella; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Schrier Vergano, Samantha; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maria Elisabeth; Iughetti, Lorenzo; Bernasconi, Sergio; Giorgi Rossi, Paolo; Garavelli, Livia
Ivanovski , I , Djuric , O , Broccoli , S , Caraffi , S G , Accorsi , P , Adam , M P , Avela , K , Badura-Stronka , M , Bayat , A , Clayton-Smith , J , Cocco , I , Cordelli , D M , Cuturilo , G , Di Pisa , V , Dupont Garcia , J , Gastaldi , R , Giordano , L , Guala , A , Hoei-Hansen , C , Inaba , M , Iodice , A , Nielsen , J E K , Kuburovic , V , Lazalde-Medina , B , Malbora , B , Mizuno , S , Moldovan , O , Møller , R S , Muschke , P , Otelli , V , Pantaleoni , C , Piscopo , C , Poch-Olive , M L , Prpic , I , Marín Reina , P , Raviglione , F , Ricci , E , Scarano , E , Simonte , G , Smigiel , R , Tanteles , G , Tarani , L , Trimouille , A , Valera , E T , Schrier Vergano , S , Writzl , K , Callewaert , B , Savasta , S , Street , M E , Iughetti , L , Bernasconi , S , Giorgi Rossi , P & Garavelli , L 2020 , ' Mowat-Wilson syndrome : growth charts ' , Orphanet Journal of Rare Diseases , vol. 15 , 151 .
Academic Journal
Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(9):965-975
Academic Journal
Bruno, Damien L; Anderlid, Britt-Marie; Lindstrand, Anna; van Ravenswaaij-Arts, Conny; Ganesamoorthy, Devika; Lundin, Johanna; Martin, Christa Lese; Douglas, Jessica; Nowak, Catherine; Adam, Margaret P; Kooy, R Frank; Van der Aa, Nathalie; Reyniers, Edwin; Vandeweyer, Geert; Stolte-Dijkstra, Irene; Dijkhuizen, Trijnie; Yeung, Alison; Delatycki, Martin; Borgström, Birgit; Thelin, Lena; Cardoso, Carlos; van Bon, Bregje; Pfundt, Rolph; de Vries, Bert B; Wallin, Anders; Amor, David J; James, Paul A; Slater, Howard R; Schoumans, Jacqueline
Journal of Medical Genetics. May 01, 2010 47(5):299-311
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[AR] Adam, Margaret P
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