학술논문
'학술논문'
에서 검색결과 54건 | 목록
1~10
Academic Journal
Academic Journal
Kaiser, Vera B.; Talmane, Lana; Kumar, Yatendra; Semple, Fiona; MacLennan, Marie; FitzPatrick, David R.; Taylor, Martin S.; Semple, Colin A.; Deciphering Dev Disorders Study
Academic Journal
Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; D'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J.; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B.; Krystal, Sidney; Kumar, Kishore R.; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A.; Milesi, Christophe; Mills, Kelly A.; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R.; Pal, Swasti; Pallais, Juan C.; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K.; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G.; Stevenson, David A.; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C.; de Vries, Bert B. A.; Wilson, Jenny L.; Wong, Derek A.; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C.; de Gusmao, Claudio M.; Friedman, Jennifer; Fung, Victor S. C.; King, Mary D.; Mohammad, Shekeeb S.; Rohena, Luis; Waugh, Jeff L.; Toro, Camilo; Raymond, F. Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M.; Kurian, Manju A.; Deciphering Dev Disorders Study; Genomics England Res Consortium; NIHR BioResource; Undiagnosed Dis Network
Academic Journal
Cordeddu, Viviana; Macke, Erica L.; Radio, Francesca Clementina; Lo Cicero, Stefania; Pantaleoni, Francesca; Tatti, Massimo; Bellacchio, Emanuele; Ciolfi, Andrea; Agolini, Emanuele; Bruselles, Alessandro; Brunetti-Pierri, Nicola; Suri, Mohnish; Josephs, Katherine S.; McEntagart, Meriel; Lanpher, Brendan; Nickels, Katherine C.; Haworth, Andrea; Reed, Laura; Cappuccio, Gerarda; Mammi, Isabella; Tarnowski, Jessica M.; Novelli, Antonio; Melis, Daniela; Callewaert, Bert; Dallapiccola, Bruno; Klee, Eric; Tartaglia, Marco; Deciphering Dev Disorders Study
Academic Journal
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J.; Deciphering Dev Disorders Study
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Academic Journal
Vaz, Frederic M.; McDermott, John H.; Alders, Marielle; Wortmann, Saskia B.; Koelker, Stefan; Pras-Raves, Mia L.; Vervaart, Martin A. T.; van Lenthe, Henk; Luyf, Angela C. M.; Elfrink, Hyung L.; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E.; Yarwood, Rebecca; Lowe, Martin P.; Lovell, Simon; Rogers, Richard C.; van Kampen, Antoine H. C.; Ruiter, Jos P. N.; Wanders, Ronald J. A.; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth; Deciphering Dev Disorders Study
Academic Journal
Bownass, Lucy; Abbs, Stephen; Armstrong, Ruth; Baujat, Genevieve; Behzadi, Gry; Berentsen, Ragnhild Drage; Burren, Christine; Calder, Alistair; Cormier-Daire, Valerie; Newbury-Ecob, Ruth; Foulds, Nicola; Juliusson, Petur B.; Kant, Sarina G.; Lefroy, Henrietta; Mehta, Sarju G.; Merckoll, Else; Michot, Caroline; Monsell, Fergal; Offiah, Amaka C.; Richards, Allan; Rosendahl, Karen; Rustad, Cecilie F.; Shears, Deborah; Tveten, Kristian; Wellesley, Diana; Wordsworth, Paul; Snnithson, Sarah; Deciphering Dev Disorders Study
Academic Journal
Kaplanis, Joanna; Akawi, Nadia; Gallone, Giuseppe; McRae, Jeremy F.; Prigmore, Elena; Wright, Caroline F.; Fitzpatrick, David R.; Firth, Helen V.; Barrett, Jeffrey C.; Hurles, Matthew E.; Deciphering Dev Disorders Study
Academic Journal
Douzgou, Sofia; Liang, Hui Wen; Metcalfe, Kay; Somarathi, Suresh; Tischkowitz, Marc; Mohamed, Wafik; Kini, Usha; McKee, Shane; Yates, Laura; Bertoli, Marta; Lynch, Sally Ann; Holder, Susan; Banka, Siddharth; Deciphering Dev Disorders Study
Academic Journal
Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; McCullagh, Gary; Millichap, John J.; Carvill, Gemma L.; Clayton-Smith, Jill; Maher, Eamonn R.; Raymond, F. Lucy; Kurian, Manju A.; Deciphering Dev Disorders Study; UK10K Consortium; NIHR BioResource
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[AR] Deciphering Dev Disorders Study
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