학술논문
'학술논문'
에서 검색결과 1,805,842건 | 목록
1~20
Editorial & Opinion
McNeill A; Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK. a.mcneill@sheffield.ac.uk.; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. a.mcneill@sheffield.ac.uk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Electronic Resource
Daga, S; Ding, J; Deltas, C; Savige, J; Lipska-Ziętkiewicz, BS; Hoefele, J; Flinter, F; Gale, DP; Aksenova, M; Kai, H; Perin, L; Barua, M; Torra, R; Miner, JH; Massella, L; Ljubanović, DG; Lennon, R; Weinstock, AB; Knebelmann, B; Cerkauskaite, A; Gear, S; Gross, O; Turner, AN; Baldassarri, M; Pinto, AM; Renieri, A
Electronic Resource
Genetica; Genetica Klinische Genetica; Child Health; Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J.M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L.E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J.K.; Bryant, Laura M.
Editorial & Opinion
McNeill A; Department of Neuroscience, The University of Sheffield, Sheffield, UK. a.mcneill@sheffield.ac.uk.; Sheffield Clinical Genetics Department, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. a.mcneill@sheffield.ac.uk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Electronic Resource
Genetica Klinische Genetica; Cancer; Child Health; Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S.
News
Plus Company Updates. December 20, 2024
Electronic Resource
Matic, Maja; Nijenhuis, Marga; Soree, Bianca; de Boer-Veger, Nienke J.; Buunk, Anne Marie; Houwink, Elisa J.F.; Mulder, Hans; Rongen, Gerard A.P.J.M.; Weide, Jan van der; Wilffert, Bob; Swen, Jesse J.; Guchelaar, Henk Jan; Deneer, Vera H.M.; van Schaik, Ron H.N.
Matic, M, Nijenhuis, M, Soree, B, de Boer-Veger, N J, Buunk, A M, Houwink, E J F, Mulder, H, Rongen, G A P J M, Weide, J V D, Wilffert, B, Swen, J J, Guchelaar, H J, Deneer, V H M & van Schaik, R H N 2022, 'Correction : Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone) (European Journal of Human Genetics , (2021), 10.1038/s41431-021-00920-y)', European Journal of Human Genetics , vol. 54, no. 10, pp. 936-944.
Academic Journal
Chan, R.W.Y.; Serpas, L.; Ni, M.; Volpi, S.; Hiraki, L.T.; Tam, L.-S.; Rashidfarrokhi, A.; Wong, P.C.H.; Tam, L.H.P.; Wang, Y.; Jiang, P.; Cheng, A.S.H.; Peng, W.; Han, D.S.C.; Tse, P.P.P.; Lau, P.K.; Lee, W.-S.; Magnasco, A.; Buti, E.; Sisirak, V.; AlMutairi, N.; Chan, K.C.A.; Chiu, R.W.K.; Reizis, B.; Lo, Y.M.D.
In: American Journal of Human Genetics . (American Journal of Human Genetics , 1 May 2025, 112(5):1247)
Academic Journal
DeBose-Scarlett, E.; Ressler, A.K.; Gallione, C.J.; Cantis, G.S.; Friday, C.; Weinsheimer, S.; Schimmel, K.; Spiekerkoetter, E.; Kim, H.; Gossage, J.R.; Faughnan, M.E.; Marchuk, D.A.
In: American Journal of Human Genetics . (American Journal of Human Genetics , 3 April 2025, 112(4):963)
Academic Journal
Daga, S.; Loberti, L.; Rollo, G.; Adamo, L.; Brunelli, G.; Zguro, K.; Ariani, F.; Renieri, A.; Colavecchio, O.L.; Tita, R.; Pinto, A.M.; D’Aurizio, R.; Tripodi, S.A.; Guarnieri, A.; Garosi, G.
In: European Journal of Human Genetics . (European Journal of Human Genetics , April 2025, 33(4):556-557)
Electronic Resource
Apotheek Klinische Farmacie; Hulshof, Emma C; Deenen, Maarten J; Nijenhuis, Marga; Soree, Bianca; de Boer-Veger, Nienke J; Buunk, Anne-Marie; Houwink, Elisa J F; Risselada, Arne; Rongen, Gerard A P J M; van Schaik, Ron H N; Touw, Daan J; van der Weide, Jan; van Westrhenen, Roos; Deneer, Vera H M; Guchelaar, Henk-Jan; Swen, Jesse J
Electronic Resource
de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Rodenburg, Richard J.; Coenen, Marieke J.H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E. L. M.
Solve-RD SNV-indel working group, Solve-RD-DITF-ITHACA, de Boer, E, Ockeloen, C W, Matalonga, L, Horvath, R, Rodenburg, R J, Coenen, M J H, Janssen, M, Henssen, D, Gilissen, C, Steyaert, W, Paramonov, I, Trimouille, A, Kleefstra, T, Verloes, A & Vissers, L E L M 2021, 'Correction : A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics , (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)', European Journal of Human Genetics , vol. 29, no. 9, pp. 1470-1471.
Electronic Resource
Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis
Solve-RD-DITF-RND, The Solve-RD Consortium, Schüle, R, Timmann, D, Erasmus, C E, Reichbauer, J, Wayand, M, van de Warrenburg, B, Schöls, L, Wilke, C, Bevot, A, Zuchner, S, Beltran, S, Laurie, S, Matalonga, L, Graessner, H & Synofzik, M 2021, 'Correction : Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics , (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)', European Journal of Human Genetics , vol. 29, no. 9, pp. 1462-1465.
Electronic Resource
Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E.L.M.; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A.C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisèle; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm
SOLVE-RD Consortium, Zurek, B, Ellwanger, K, Vissers, L E L M, Schüle, R, Synofzik, M, Töpf, A, de Voer, R M, Laurie, S, Matalonga, L, Gilissen, C, Ossowski, S, 't Hoen, P A C, Vitobello, A, Schulze-Hentrich, J M, Riess, O, Brunner, H G, Brookes, A J, Rath, A, Bonne, G, Gumus, G, Verloes, A, Hoogerbrugge, N, Evangelista, T, Harmuth, T, Swertz, M, Spalding, D, Hoischen, A, Beltran, S & Graessner, H 2021, 'Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (European journal of human genetics : EJHG (2021) 29 9 (1325-1331))', European journal of human genetics : EJHG, vol. 29, no. 9, pp. 1459-1461.
Academic Journal
Orimo, K.; Matsukawa, T.; Ishiura, H.; Toda, T.; Tsuji, S.; Mitsui, J.; Tanaka, M.; Nomoto, J.; Omae, Y.; Kawai, Y.; Tokunaga, K.; Takahashi, A.; Noguchi, M.; Tomita, T.; Ishibashi-Ueda, H.; Goto, Y.-I.; Matsumura, R.; Hattori, K.; Yoshida, S.; Iida, A.; Suzuki, S.; Shimomura, A.; Maruoka, Y.; Gatanaga, H.; Sugiyama, M.; Miyo, K.; Matsubara, Y.; Umezawa, A.; Hata, K.; Kaname, T.; Niida, S.; Watanabe, H.; Tokuda, H.; Ozaki, K.; Tokunaga, K.; Shimanuki, H.; Miyahara, R.; Kitajima, K.; Noiri, E.; Kawai, Y.
In: Journal of Human Genetics Journal of Human Genetics , December 2024, 69(12):679-680)
Academic Journal
Verlee, M.; D’haenens, E.; De Cock, L.; Muiño Mosquera, L.; Menten, B.; Symoens, S.; Coucke, P.; Van Damme, T.; Vergult, S.; Callewaert, B.; De Groote, K.; Vandekerckhove, K.; Panzer, J.; Roets, E.
In: European Journal of Human Genetics . (European Journal of Human Genetics , 2025)
검색 결과 제한하기
제한된 항목
[검색어] Journal of human genetics
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어