학술논문
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'학술논문'
에서 검색결과 396건 | 목록
1~20
Academic Journal
Harkness, J. Robert; McDermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D.S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J.M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovičová, Radka; Haberlová, Jana; Lauerová, Barbora; Trúsiková, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmüller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; AlMuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'Keefe, Raymond T.; Newman, William G.
Harkness, J R, McDermott, J H, Marsden, S, Jamieson, P, Metcalfe, K A, Khan, N, Macken, W L, Pitceathly, R D S, Record, C J, Maroofian, R, Kleopa, K, Christodoulou, K, Sabir, A, Islam, L, Santra, S, Durmusalioglu, E A, Atik, T, Isik, E, Cogulu, O, Urquhart , J E, Beaman, G M, Demain, L A, Jackson, A, Blakes, A J M, Byers, H J, Bennett, H, Lin, W H, Adamson, A, Patel, S, Yue, W W, Taylor, R W, Reunert, J, Marquardt, T, Buchert, R, Haack, T, Losch, H, Ryba, L, Lassuthova, P, Valkovičová, R, Haberlová, J, Lauerová, B, Trúsiková, E, Polavarapu, K, Kilicarslan, O A, Lochmüller, H, Zamani, M, Chamanrou, N, Shariati, G, Sadeghian, S, Azizimalamiri, R, Maddirevula, S, AlMuhaizea, M, Alkuraya, F S, Horvath, R, Gungor, S, Manzur, A, Munot, P, Matthews, R, Banka, S, Reilly, M M, Bennett, D, O'Keefe, R T & Newman, W G 2025, 'Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants : a case series', The Lancet Neurology, vol. 24, no. 8, pp. 667-680. https://doi.org/10.1016/S1474-4422(25)00198-X
Academic Journal
Smith, Thomas B. ; Kopajtich, Robert ; Demain, Leigh A.M. ; Rea, Alessandro ; Thomas, Huw B. ; Schiff, Manuel ; Beetz, Christian ; Joss, Shelagh ; Conway, Gerard S. ; Shukla, Anju ; Yeole, Mayuri ; Radhakrishnan, Periyasamy ; Azzouz, Hatem ; Ben Chehida, Amel ; Elmaleh-Bergès, Monique ; Glasgow, Ruth I.C. ; Thompson, Kyle ; Oláhová, Monika ; He, Langping ; Jenkinson, Emma M. ; Jahic, Amir ; Belyantseva, Inna A. ; Barzik, Melanie ; Urquhart, Jill E. ; O’Sullivan, James ; Williams, Simon G. ; Bhaskar, Sanjeev S. ; Carrera, Samantha ; Blakes, Alexander J.M. ; Banka, Siddharth ; Yue, Wyatt W. ; Ellingford, Jamie M. ; Houlden, Henry ; Munro, Kevin J. ; Friedman, Thomas B. ; Taylor, Robert W. ; Prokisch, Holger ; O’Keefe, Raymond T. ; Newman, William G.
In The American Journal of Human Genetics 2 January 2025 112(1):59-74
Academic Journal
Current Oncology, Vol 31, Iss 12, Pp 8010-8022 (2024)
Academic Journal
Cooles, Faye; Vidal-Pedrola, Gemma; Naamane, Najib; Pratt, Arthur; Barron-Millar, Ben; Anderson, Amy; Hilkens, Catharien; Casement, John; Bondet, Vincent; Duffy, Darragh; Zhang, Fan; Shukla, Ruchi; Isaacs, John; Little, Martin; Payne, Miranda; Coupe, Nicholas; Fairfax, Benjamin; Taylor, Chelsea Alice; Mackay, Sophie; Milotay, Gusztav; Bos, Saskia; Hunter, Bethany; Mcdonald, David; Merces, George; Sheldon, Georgia; Pradère, Pauline; Majo, Joaquim; Pulle, Julian; Vanstapel, Arno; Vanaudenaerde, Bart M; Vos, Robin; Filby, Andrew J; Fisher, Andrew J; Collier, Jack; Lambton, James; Suomi, Fumi; Prigent, Magali; Guissart, Claire; Erskine, Daniel; Rozanska, Agata; Mccorvie, Thomas; Trimouille, Aurélien; Imam, Aliza; Hobson, Emma; Mccullagh, Helen; Frengen, Eirik; Misceo, Doriana; Bjerre, Anna; Smeland, Marie; Klingenberg, Claus; Alkuraya, Fowzan; Mcfarland, Robert; Alston, Charlotte; Yue, Wyatt; Legouis, Renaud; Koenig, Michel; Lako, Majlinda; Mcwilliams, Thomas; Oláhová, Monika; Taylor, Rob; Newman, William; Harkness, Rob; McDermott, John; Metcalfe, Kay; Khan, Naz; Macken, William; Pitceathly, Robert; Record, Christopher; Maroofian, Reza; Sabir, Ataf; Santra, Saikat; Urquhart, Jill; Demain, Leigh; Byers, Helen; Beaman, Glenda; Taylor, Robert; Durmusalioglu, Enise; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Reunert, Janine; Marquardt, Thorsten; Ryba, Lukas; Buchert-Lo, Rebecca; Haack, Tobias; Lassuthova, Petra; Polavarapu, Kiran; Lochmuller, Hans; Horvath, Rita; Jamieson, Peter; Reilly, Mary; O'Keefe, Ray; Boggan, Róisín; Ng, Yi Shiau; Franklin, Imogen; Blakely, Emma; Büchner, Boriana; Bugiardini, Enrico; Colclough, Kevin; Feeney, Catherine; Hanna, Michael; Hattersley, Andrew; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; Patel, Kashyap; Pizzamiglio, Chiara; Prokisch, Holger; Schäfer, Jochen; Schaefer, Andrew; Shepherd, Maggie; Thaele, Annemarie; Thomas, Rhys; Turnbull, Doug; Gorman, Gráinne; Woodward, Cathy; McFarland, Robert; Cordell, Heather; Pickett, Sarah; Tsilifis, Christo; Pearce, Mark; Gennery, Andrew; Daly, Ann; Darlay, Rebecca; Zatorska, Michalina; Worthington, Sarah; Anstee, Quentin; Reeves, Helen; Nizami, Salem; Mauricio-Muir, Joao; McCain, Misti; Singh, Ranjeet; Wordsworth, James; Kadharusman, Marcello; Watson, Robyn; Masson, Steven; McPherson, Stuart; Burt, Alastair; Tiniakos, Dina; Littler, Peter; Nsengimana, Jeremie; Zhang, Sylvia; Mann, Derek; Jamieson, David; Leslie, Jack; Wilson, Caroline; Betts, Jill; Croall, Iain; Hoggard, Nigel; Bennett, Joshua; Hollingsworth, Kieren G; Pratt, Arthur G; Egail, Maha; Di Leo, Valeria; Taylor, Robert W; Dodds, Richard; Anderson, Amy E; Sayer, Avan Aihie; Isaacs, John D; McCracken, Celeste; Condurache, Dorina-Gabriela; Szabo, Liliana; Elghazaly, Hussein; Walter, Fiona; Meade, Adam; Chakraverty, Ronjon; Harvey, Nicholas; Manisty, Charlotte; Petersen, Steffen; Neubauer, Stefan; Raisi-Estabragh, Zahra; Allen, Lowri; Taylor, Peter; Carlsson, Annelie; Hagopian, William; Hedlund, Emma; Hill, Anita; Jones, Angus; Ludvigsson, Johnny; Onengut-Gumuscu, Suna; Redondo, Maria; Rich, Stephen; Gillespie, Kathleen; Dayan, Colin; Oram, Richard; Resteu, Anastasia; Wonders, Kristy; Schattenberg, Jörn; Straub, Beate; Ekstedt, Mattias; Berzigotti, Annalisa; Geier, Andreas; Francque, Sven; Driessen, Ann; Boursier, Jerome; Yki-Jarvinen, Hannele; Arola, Johanna; Aithal, Guruprasad; Holleboom, Adriaan; Verheij, Joanne; Yunis, Carla; Trylesinski, Aldo; Papatheodoridis, George; Petta, Salvatore; Romero-Gomez, Manuel; Bugianesi, Elisabetta; Paradis, Valerie; Ratziu, Vlad; Burton, Jenni; Ciminata, Giorgio; Geue, Claudia; Quinn, Terry; Glover, Emily; Morais, Mychel; Reynolds, Gary; Denby, Laura; Ali, Simi; Lennon, Rachel; Sheerin, Neil; Yang, Freda; Zounemat-Kermani, Nazanin; Dixey, Piers; Adcock, Ian M; Bloom, Chloe I; Chung, Kian Fan; Govaere, Olivier; Hasoon, Megan; Alexander, Leigh; Cockell, Simon; Schattenberg, Jörn M; Daly, Ann K; Anstee, Quentin M
QJM: An International Journal of Medicine.
Academic Journal
Harkness, J. Robert ; Thomas, Huw B. ; Urquhart, Jill E. ; Jamieson, Peter ; O'Keefe, Raymond T. ; Kingston, Helen M. ; Deshpande, Charulata ; Newman, William G.
In European Journal of Medical Genetics February 2024 67
Academic Journal
Harkness, J. Robert; Mcdermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D. S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J. M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei-Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovicova, Radka; Haberlova, Jana; Lauerova, Barbora; Trusikova, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmuller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; Almuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'keefe, Raymond T.; Newman, William G.
Academic Journal
Hochberg, Irit; Demain, Leigh A M; Richer, Julie; Thompson, Kyle; Urquhart, Jill E; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A; McMillan, Hugh J; Barzik, Melanie; Beaman, Glenda M; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G; Bhaskar, Sanjeev S; Lawrence, Isabella R; Jenkinson, Emma M; Zambonin, Jessica L; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Genomics England Research Consortium; Yue, Wyatt W; Zschocke, Johannes; Munro, Kevin J; Battersby, Brendan J; Friedman, Thomas B; Taylor, Robert W; O'Keefe, Raymond T; Newman, William G
Am J Hum Genet
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Institut de Recerca Germans Trias i Pujol (IGTP)
Hochberg, I, Demain, L, Richer, J, Thompson, K,Urquhart , J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, 'Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204. https://doi.org/10.1016/j.ajhg.2021.10.002
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Institut de Recerca Germans Trias i Pujol (IGTP)
Hochberg, I, Demain, L, Richer, J, Thompson, K,
Academic Journal
Madhu, Rajesh ; Beaman, Glenda M. ; Chandler, Kate E. ; O'Sullivan, James ; Urquhart, Jill E. ; Khan, Naz ; Martindale, Elizabeth ; Briggs, Tracy A. ; Clayton-Smith, Jill ; Higgs, Jenny ; Batra, Gauri ; Kerr, Bronwyn ; Woolf, Adrian S. ; Newman, William G.
In European Journal of Medical Genetics September 2020 63(9)
Academic Journal
Pottie, Lore ; Adamo, Christin S. ; Beyens, Aude ; Lütke, Steffen ; Tapaneeyaphan, Piyanoot ; De Clercq, Adelbert ; Salmon, Phil L. ; De Rycke, Riet ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Khan, Naz ; Urquhart, Jill E. ; Newman, William G. ; Metcalfe, Kay ; Efthymiou, Stephanie ; Maroofian, Reza ; Anwar, Najwa ; Maqbool, Shazia ; Rahman, Fatima ; Altweijri, Ikhlass ; Alsaleh, Monerah ; Abdullah, Sawsan Mohamed ; Al-Owain, Mohammad ; Hashem, Mais ; Houlden, Henry ; Alkuraya, Fowzan S. ; Sips, Patrick ; Sengle, Gerhard ; Callewaert, Bert
In The American Journal of Human Genetics 3 June 2021 108(6):1095-1114
Dissertation/ Thesis
Dissertation Abstracts International; Dissertation Abstract International; 72-01A.
Academic Journal
Silvia Vidali; Raffaele Gerlini; Kyle Thompson; Jill E Urquhart; Jana Meisterknecht; Juan Antonio Aguilar‐Pimentel; Oana V Amarie; Lore Becker; Catherine Breen; Julia Calzada‐Wack; Nirav F Chhabra; Yi‐Li Cho; Patricia da Silva‐Buttkus; René G Feichtinger; Kristine Gampe; Lillian Garrett; Kai P Hoefig; Sabine M Hölter; Elisabeth Jameson; Tanja Klein‐Rodewald; Stefanie Leuchtenberger; Susan Marschall; Philipp Mayer‐Kuckuk; Gregor Miller; Manuela A Oestereicher; Kristina Pfannes; Birgit Rathkolb; Jan Rozman; Charlotte Sanders; Nadine Spielmann; Claudia Stoeger; Marten Szibor; Irina Treise; John H Walter; Wolfgang Wurst; Johannes A Mayr; Helmut Fuchs; Ulrich Gärtner; Ilka Wittig; Robert W Taylor; William G Newman; Holger Prokisch; Valerie Gailus‐Durner; Martin Hrabě de Angelis
EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-19 (2021)
Academic Journal
Conte, Ivan; Hadfield, Kristen D.; Barbato, Sara; Carrella, Sabrina; Pizzo, Mariateresa; Bhat, Rajeshwari S.; Carissimo, Annamaria; Karali, Marianthi; Porter, Louise F.; Urquhart, Jill; Hateley, Sofie; O’Sullivan, James; Manson, Forbes D. C.; Neuhauss, Stephan C. F.; Banfi, Sandro; Black, Graeme C. M.
Proceedings of the National Academy of Sciences of the United States of America, 2015 Jun . 112(25), E3236-E3245.
Report
Foster, Jonathan B.; Rathborne, Jill M.; Sanhueza, Patricio; Claysmith, Chris; Whitaker, J. Scott; Jackson, James M.; Mascoop, Joshua L.; Wienen, Marion; Breen, Shari L.; Herpin, Fabrice; Duarte-Cabral, Ana; Csengeri, Timea; Contreras, Yanett; Indermuehle, Balt; Barnes, Peter J.; Walsh, Andrew J.; Cunningham, Maria R.; Britton, Tui R.; Voronkov, Maxim A.; Urquhart, James S.; Alves, João; Jordan, Christopher H.; Hill, Tracey; Hoq, Sadia; Brooks, Kate J.; Longmore, Steven N.
Academic Journal
Knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begona; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A; Perveen, Rahat; Preece, Mary A; Rogers, Yvonne; Treacy, Eileen P; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W; Robinson, Ian; Rodríguez-Pombo, Pilar; Olpin, Simon E; Banka, Siddharth
Digital.CSIC. Repositorio Institucional del CSIC
instname
Consejo Superior de Investigaciones Científicas (CSIC)
instname
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
Cooles, Faye; Vidal-Pedrola, Gemma; Naamane, Najib; Pratt, Arthur; Barron-Millar, Ben; Anderson, Amy; Hilkens, Catharien; Casement, John; Bondet, Vincent; Duffy, Darragh; Zhang, Fan; Shukla, Ruchi; Isaacs, John; Little, Martin; Payne, Miranda; Coupe, Nicholas; Fairfax, Benjamin; Taylor, Chelsea Alice; Mackay, Sophie; Milotay, Gusztav; Bos, Saskia; Hunter, Bethany; Mcdonald, David; Merces, George; Sheldon, Georgia; Pradere, Pauline; Majo, Joaquim; Pulle, Julian; Vanstapel, Arno; Vanaudenaerde, Bart M.; Vos, Robin; Filby, Andrew J.; Fisher, Andrew J.; Collier, Jack; Lambton, James; Suomi, Fumi; Prigent, Magali; Guissart, Claire; Erskine, Daniel; Rozanska, Agata; Mccorvie, Thomas; Trimouille, Aurelien; Imam, Aliza; Hobson, Emma; Mccullagh, Helen; Frengen, Eirik; Misceo, Doriana; Bjerre, Anna; Smeland, Marie; Klingenberg, Claus; Alkuraya, Fowzan; Mcfarland, Robert; Alston, Charlotte; Yue, Wyatt; Legouis, Renaud; Koenig, Michel; Lako, Majlinda; Mcwilliams, Thomas; Olahova, Monika; Taylor, Rob; Newman, William; Harkness, Rob; McDermott, John; Metcalfe, Kay; Khan, Naz; Macken, William; Pitceathly, Robert; Record, Christopher; Maroofian, Reza; Sabir, Ataf; Santra, Saikat; Urquhart, Jill; Demain, Leigh; Byers, Helen; Beaman, Glenda; Taylor, Robert; Durmusalioglu, Enise; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Reunert, Janine; Marquardt, Thorsten; Ryba, Lukas; Buchert-Lo, Rebecca; Haack, Tobias; Lassuthova, Petra; Polavarapu, Kiran; Lochmuller, Hans; Horvath, Rita; Jamieson, Peter; Reilly, Mary; O'Keefe, Ray; Boggan, Roisin; Ng, Yi Shiau; Franklin, Imogen; Blakely, Emma; Buechner, Boriana; Bugiardini, Enrico; Colclough, Kevin; Feeney, Catherine; Hanna, Michael; Hattersley, Andrew; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; Patel, Kashyap; Pizzamiglio, Chiara; Prokisch, Holger; Schaefer, Jochen; Schaefer, Andrew; Shepherd, Maggie; Thaele, Annemarie; Thomas, Rhys; Turnbull, Doug; Gorman, Grainne; Woodward, Cathy; McFarland, Robert; Cordell, Heather; Pickett, Sarah; Tsilifis, Christo; Pearce, Mark; Gennery, Andrew; Daly, Ann; Darlay, Rebecca; Zatorska, Michalina; Worthington, Sarah; Anstee, Quentin; Reeves, Helen; Nizami, Salem; Mauricio-Muir, Joao; McCain, Misti; Singh, Ranjeet; Wordsworth, James; Kadharusman, Marcello; Watson, Robyn; Masson, Steven; McPherson, Stuart; Burt, Alastair; Tiniakos, Dina; Littler, Peter; Nsengimana, Jeremie; Zhang, Sylvia; Mann, Derek; Jamieson, David; Leslie, Jack; Wilson, Caroline; Betts, Jill; Croall, Iain; Hoggard, Nigel; Bennett, Joshua; Hollingsworth, Kieren G.; Pratt, Arthur G.; Egail, Maha; Di Leo, Valeria; Taylor, Robert W.; Dodds, Richard; Anderson, Amy E.; Sayer, Avan Aihie; Isaacs, John D.; McCracken, Celeste; Condurache, Dorina-Gabriela; Szabo, Liliana; Elghazaly, Hussein; Walter, Fiona; Meade, Adam; Chakraverty, Ronjon; Harvey, Nicholas; Manisty, Charlotte; Petersen, Steffen; Neubauer, Stefan; Raisi-Estabragh, Zahra; Allen, Lowri; Taylor, Peter; Carlsson, Annelie; Hagopian, William; Hedlund, Emma; Hill, Anita; Jones, Angus; Ludvigsson, Johnny; Onengut-Gumuscu, Suna; Redondo, Maria; Rich, Stephen; Gillespie, Kathleen; Dayan, Colin; Oram, Richard; Resteu, Anastasia; Wonders, Kristy; Schattenberg, Joern; Straub, Beate; Ekstedt, Mattias; Berzigotti, Annalisa; Geier, Andreas; Francque, Sven; Driessen, Ann; Boursier, Jerome; Yki-Jarvinen, Hannele; Arola, Johanna; Aithal, Guruprasad; Holleboom, Adriaan; Verheij, Joanne; Yunis, Carla; Trylesinski, Aldo; Papatheodoridis, George; Petta, Salvatore; Romero-Gomez, Manuel; Bugianesi, Elisabetta; Paradis, Valerie; Ratziu, Vlad; Burton, Jenni; Ciminata, Giorgio; Geue, Claudia; Quinn, Terry; Glover, Emily; Morais, Mychel; Reynolds, Gary; Denby, Laura; Ali, Simi; Lennon, Rachel; Sheerin, Neil; Yang, Freda; Zounemat-Kermani, Nazanin; Dixey, Piers; Adcock, Ian M.; Bloom, Chloe I.; Chung, Kian Fan; Govaere, Olivier; Hasoon, Megan; Alexander, Leigh; Cockell, Simon; Schattenberg, Joern M.; Daly, Ann K.; Anstee, Quentin M.
Academic Journal
In European Journal of Medical Genetics October 2017 60(10):527-532
Academic Journal
Helbig, Katherine; Lauerer, Robert; Bahr, Jacqueline; Souza, Ivana; Myers, Candace; Uysal, Betül; Schwarz, Niklas; Gandini, Maria; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina; Soerensen, Kristina; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan; Klee, Eric; Tillema, Jan-Mendelt; Payne, Eric; Cousin, Margot; Kruisselbrink, Teresa; Wick, Myra; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica; Katsanis, Nicholas; Corbett, Mark; Maclennan, Alastair; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly; Asamoah, Alexander; Dimmock, David; Mccarrier, Julie; Botto, Lorenzo; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie; Nolan, Melinda; Snell, Russell; Lehnert, Klaus; Sadleir, Lynette; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael; Lyons, Michael; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle; Smith, Lacey; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren; Rankin, Julia; Zeman, Adam; Raymond, F Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike; Scheffer, Ingrid; Helbig, Ingo; Zamponi, Gerald; Lerche, Holger; Mefford, Heather; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; Mcdonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John
American Journal of Human Genetics, 103, 5, pp. 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
Deciphering Developmental Disorders Study, Task Force for Neonatal Genomics, 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, D V T, Héron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, C R, Soerensen, K P, Kibaek, M, Kamsteeg, E-J, Koolen, D A, Gunning, B, Schelhaas, H J, Kruer, M C, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, S C, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, Q, Zhu, C, Boysen, K, Vairo, F, Lanpher, B C, Klee, E W, Tillema, J-M, Payne, E T, Cousin, M A, Kruisselbrink, T M, Wick, M J, Baker, J, Haan, E, Kerr, B, Hughes, I & Banka, S 2019, 'Correction : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 104, no. 3, pp. P562. https://doi.org/10.1016/j.ajhg.2019.02.015
Deciphering Developmental Disorders Study 2018, 'De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678. https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, vol 103, iss 5
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
Deciphering Developmental Disorders Study, Task Force for Neonatal Genomics, 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, D V T, Héron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, C R, Soerensen, K P, Kibaek, M, Kamsteeg, E-J, Koolen, D A, Gunning, B, Schelhaas, H J, Kruer, M C, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, S C, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, Q, Zhu, C, Boysen, K, Vairo, F, Lanpher, B C, Klee, E W, Tillema, J-M, Payne, E T, Cousin, M A, Kruisselbrink, T M, Wick, M J, Baker, J, Haan, E, Kerr, B, Hughes, I & Banka, S 2019, 'Correction : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 104, no. 3, pp. P562. https://doi.org/10.1016/j.ajhg.2019.02.015
Deciphering Developmental Disorders Study 2018, 'De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678. https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, vol 103, iss 5
Academic Journal
Emma M Jenkinson; Mathieu P Rodero; Paul R Kasher; Carolina Uggenti; Anthony Oojageer; Laurence C Goosey; Yoann Rose; Christopher J Kershaw; Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; James O'Sullivan; Gabriela M Baerlocher; Monika Haubitz; Geraldine Aubert; Kristin W Barañano; Angela J Barnicoat; Roberta Battini; Andrea Berger; Edward M Blair; Janice E Brunstrom-Hernandez; Johannes A Buckard; David M Cassiman; Rosaline Caumes; Duccio M Cordelli; Liesbeth M De Waele; Alexander J Fay; Patrick Ferreira; Nicholas A Fletcher; Alan E Fryer; Himanshu Goel; Cheryl A Hemingway; Marco Henneke; Imelda Hughes; Rosalind J Jefferson; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenço; Timothy J Malpas; Sarju G Mehta; Imke Metz; Sakkubai Naidu; Katrin Õunap; Axel Panzer; Prab Prabhakar; Gerardine Quaghebeur; Raphael Schiffmann; Elliott H Sherr; Kanaga R Sinnathuray; Calvin Soh; Helen S Stewart; John Stone; Hilde Van Esch; Christine E G Van Mol; Adeline Vanderver; Emma L Wakeling; Andrea Whitney; Graham D Pavitt; Sam Griffiths-Jones; Gillian I Rice; Patrick Revy; Marjo S van der Knaap; John H Livingston; Raymond T O'Keefe; Yanick J Crow
Nat Genet
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J,Urquhart , J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185-1192. https://doi.org/10.1038/ng.3661
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y,Urquhart , J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185–1192. https://doi.org/10.1038/ng.3661
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J,
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y,
Academic Journal
Li, Yun; Pawlik, Barbara; Elcioglu, Nursel; Aglan, Mona; Kayserili, Hülya; Yigit, Gökhan; Percin, Ferda; Goodman, Frances; Nürnberg, Gudrun; Cenani, Asim; Urquhart, Jill; Chung, Boi Dinh; Ismail, Samira; Amr, Khalda; Aslanger, Ayca D.; Becker, Christian; Netzer, Christian; Scambler, Pete; Eyaid, Wafaa; Hamamy, Hanan; Clayton-Smith, Jill; Hennekam, Raoul; Nürnberg, Peter; Herz, Joachim; Temtamy, Samia A.; Wollnik, Bernd
Li, Y, Pawlik, B, Elcioglu, N, Aglan, M, Kayserili, H, Yigit, G, Percin, F, Goodman, F, Nürnberg, G, Cenani, A, Urquhart , J, Chung, B D, Ismail, S, Amr, K, Aslanger, A D, Becker, C, Netzer, C, Scambler, P, Eyaid, W, Hamamy, H, Clayton-Smith, J, Hennekam, R, Nürnberg, P, Herz, J, Temtamy, S A & Wollnik, B 2010, 'LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome', American Journal of Human Genetics, vol. 86, no. 5, pp. 696-706. https://doi.org/10.1016/j.ajhg.2010.03.004
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