학술논문
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'학술논문'
에서 검색결과 1,863건 | 목록
1~20
Academic Journal
Samaneh Farashi; Carla J. Abbott; Brendan R. E. Ansell; Zhichao Wu; Lebriz Altay; Ella Arnon; Louis Arnould; Yelena Bagdasarova; Konstantinos Balaskas; Fred K. Chen; Emily Chew; Itay Chowers; Steven Clarke; Catherine Cukras; Cécile Delcourt; Marie-Noëlle Delyfer; Anneke I. den Hollander; Sascha Fauser; Robert P. Finger; Pierre-Henry Gabrielle; Jiru Han; Lauren A. B. Hodgson; Ruth Hogg; Frank G. Holz; Carel Hoyng; Himeesh Kumar; Eleonora M. Lad; Aaron Lee; Ulrich F. O. Luhmann; Matthias M. Mauschitz; Amy J. McKnight; Samuel McLenachan; Aniket Mishra; Ismail Moghul; Luz D. Orozco; Danuta M. Sampson; Liam W. Scott; Vasilena Sitnilska; Scott Song; Amy Stockwell; Anand Swaroop; Jan H. Terheyden; Liran Tiosano; Adnan Tufail; Brian L. Yaspan; MACUSTAR consortium; NICOLA consortium; Alice Pébay; Erica L. Fletcher; Robyn H. Guymer; Melanie Bahlo; On behalf of the Reticular Pseudodrusen Consortium
Nature Communications, Vol 16, Iss 1, Pp 1-16 (2025)
Academic Journal
ce:underline>Schnegg, B. ; Devaz, R.; Barua, S.; Lo, P.; Chavali, S.; Capek, L.; Bruno, J.D.; Pavlicek-Bahlo, M.; Xourgia, E.; Muthiah, K.; Robson, D.; Zürcher, K.; Reineke, D.; Siepe, M.; Windecker, S.; Macdonald, P.; Hayward, C.
Journal of Heart and Lung Transplantation. 44(4):S73-S74
Academic Journal
Maryam Pavlicek-Bahlo; Barbara Hasse; Michelle Frank; Anna Conen; Matthaios Papadimitriou-Olivgeris; Benoit Guery; Alain M. Bernheim; Philipp K.A. Agyeman; Walter Knirsch; Michael M. Bornstein; Matthias Greutmann; Parham Sendi
Swiss Medical Weekly, Vol 155, Iss 6 (2025)
Academic Journal
V. E. Jackson; Y. Wu; R. Bonelli; J. P. Owen; L. W. Scott; S. Farashi; Y. Kihara; M. L. Gantner; C. Egan; K. M. Williams; B. R. E. Ansell; A. Tufail; A. Y. Lee; M. Bahlo
Nature Communications, Vol 16, Iss 1, Pp 1-19 (2025)
Academic Journal
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
Mathew Wallis; Simon D. Bodek; Jacob Munro; Haloom Rafehi; Mark F. Bennett; Zimeng Ye; Amy Schneider; Fiona Gardiner; Giulia Valente; Emma Murdoch; Eloise Uebergang; Jacquie Hunter; Chloe Stutterd; Aamira Huq; Lucinda Salmon; Ingrid Scheffer; Dhamidhu Eratne; Stephen Meyn; Chun Y. Fong; Tom John; Saul Mullen; Susan M. White; Natasha J. Brown; George McGillivray; Jesse Chen; Chris Richmond; Andrew Hughes; Emma Krzesinski; Andrew Fennell; Brian Chambers; Renee Santoreneos; Anna Le Fevre; Michael S. Hildebrand; Melanie Bahlo; John Christodoulou; Martin Delatycki; Samuel F. Berkovic
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Academic Journal
Braat, S; Fielding, KL; Han, J; Jackson, VE; Zaloumis, S; Xu, JXH; Moir-Meyer, G; Blaauwendraad, SM; Jaddoe, VWV; Gaillard, R; Parkin, PC; Borkhoff, CM; Keown-Stoneman, CDG; Birken, CS; Maguire, JL; Bahlo, M; Davidson, EM; Pasricha, S-R
Lancet Haematol
Academic Journal
Rhett G. Marchant; Samantha J. Bryen; Melanie Bahlo; Anita Cairns; Katherine R. Chao; Alastair Corbett; Mark R. Davis; Vijay S. Ganesh; Roula Ghaoui; Kristi J. Jones; Andrew J. Kornberg; Monkol Lek; Christina Liang; Daniel G. MacArthur; Emily C. Oates; Anne O'Donnell‐Luria; Gina L. O'Grady; Ikeoluwa A. Osei‐Owusu; Haloom Rafehi; Stephen W. Reddel; Richard H. Roxburgh; Monique M. Ryan; Sarah A. Sandaradura; Liam W. Scott; Elise Valkanas; Ben Weisburd; Helen Young; Frances J. Evesson; Leigh B. Waddell; Sandra T. Cooper
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
Academic Journal
Denis M. Nyaga; Michael S. Hildebrand; Guillem deValles‐Ibáñez; Ngaire F. Keenan; Zimeng Ye; Christy W. LaFlamme; Heather C. Mefford; Mark F. Bennett; Melanie Bahlo; Lynette G. Sadleir
Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)
Conference
Proceedings of International Frequency Control Symposium Frequency control Frequency Control Symposium, 1997., Proceedings of the 1997 IEEE International. :129-132 1997
Academic Journal
Stevelink R.; Campbell C.; Chen S.; Abou-Khalil B.; Adesoji O. M.; Afawi Z.; Amadori E.; Anderson A.; Anderson J.; Andrade D. M.; Annesi G.; Auce P.; Avbersek A.; Bahlo M.; Baker M. D.; Balagura G.; Balestrini S.; Barba C.; Barboza K.; Bartolomei F.; Bast T.; Baum L.; Baumgartner T.; Baykan B.; Bebek N.; Becker A. J.; Becker F.; Bennett C. A.; Berghuis B.; Berkovic S. F.; Beydoun A.; Bianchini C.; Bisulli F.; Blatt I.; Bobbili D. R.; Borggraefe I.; Bosselmann C.; Braatz V.; Bradfield J. P.; Brockmann K.; Brody L. C.; Buono R. J.; Busch R. M.; Caglayan H.; Campbell E.; Canafoglia L.; Canavati C.; Cascino G. D.; Castellotti B.; Catarino C. B.; Cavalleri G. L.; Cerrato F.; Chassoux F.; Cherny S. S.; Cheung C. -L.; Chinthapalli K.; Chou I. -J.; Chung S. -K.; Churchhouse C.; Clark P. O.; Cole A. J.; Compston A.; Coppola A.; Cosico M.; Cossette P.; Craig J. J.; Cusick C.; Daly M. J.; Davis L. K.; de Haan G. -J.; Delanty N.; Depondt C.; Derambure P.; Devinsky O.; Di Vito L.; Dlugos D. J.; Doccini V.; Doherty C. P.; El-Naggar H.; Elger C. E.; Ellis C. A.; Eriksson J. G.; Faucon A.; Feng Y. -C. A.; Ferguson L.; Ferraro T. N.; Ferri L.; Feucht M.; Fitzgerald M.; Fonferko-Shadrach B.; Fortunato F.; Franceschetti S.; Franke A.; French J. A.; Freri E.; Gagliardi M.; Gambardella A.; Geller E. B.; Giangregorio T.; Gjerstad L.; Glauser T.; Goldberg E.; Goldman A.; Granata T.; Greenberg D. A.; Guerrini R.; Gupta N.; Haas K. F.; Hakonarson H.; Hallmann K.; Hassanin E.; Hegde M.; Heinzen E. L.; Helbig I.; Hengsbach C.; Heyne H. O.; Hirose S.; Hirsch E.; Hjalgrim H.; Howrigan D. P.; Hucks D.; Hung P. -C.; Iacomino M.; Imbach L. L.; Inoue Y.; Ishii A.; Jamnadas-Khoda J.; Jehi L.; Johnson M. R.; Kalviainen R.; Kamatani Y.; Kanaan M.; Kanai M.; Kantanen A. -M.; Kara B.; Kariuki S. M.; Kasperaviciute D.; Kasteleijn-Nolst Trenite D.; Kato M.; Kegele J.; Kesim Y.; Khoueiry-Zgheib N.; King C.; Kirsch H. E.; Klein K. M.; Kluger G.; Knake S.; Knowlton R. C.; Koeleman B. P. C.; Korczyn A. D.; Koupparis A.; Kousiappa I.; Krause R.; Krenn M.; Krestel H.; Krey I.; Kunz W. S.; Kurki M. I.; Kurlemann G.; Kuzniecky R.; Kwan P.; Labate A.; Lacey A.; Lal D.; Landoulsi Z.; Lau Y. -L.; Lauxmann S.; Leech S. L.; Lehesjoki A. -E.; Lemke J. R.; Lerche H.; Lesca G.; Leu C.; Lewin N.; Lewis-Smith D.; Li G. H. -Y.; Li Q. S.; Licchetta L.; Lin K. -L.; Lindhout D.; Linnankivi T.; Lopes-Cendes I.; Lowenstein D. H.; Lui C. H. T.; Madia F.; Magnusson S.; Marson A. G.; May P.; McGraw C. M.; Mei D.; Mills J. L.; Minardi R.; Mirza N.; Moller R. S.; Molloy A. M.; Montomoli M.; Mostacci B.; Muccioli L.; Muhle H.; Muller-Schluter K.; Najm I. M.; Nasreddine W.; Neale B. M.; Neubauer B.; Newton C. R. J. C.; Nothen M. M.; Nothnagel M.; Nurnberg P.; O'Brien T. J.; Okada Y.; Olafsson E.; Oliver K. L.; Ozkara C.; Palotie A.; Pangilinan F.; Papacostas S. S.; Parrini E.; Pato C. N.; Pato M. T.; Pendziwiat M.; Petrovski S.; Pickrell W. O.; Pinsky R.; Pippucci T.; Poduri A.; Pondrelli F.; Powell R. H. W.; Privitera M.; Rademacher A.; Radtke R.; Ragona F.; Rau S.; Rees M. I.; Regan B. M.; Reif P. S.; Rhelms S.; Riva A.; Rosenow F.; Ryvlin P.; Saarela A.; Sadleir L. G.; Sander J. W.; Sander T.; Scala M.; Scattergood T.; Schachter S. C.; Schankin C. J.; Scheffer I. E.; Schmitz B.; Schoch S.; Schubert-Bast S.; Schulze-Bonhage A.; Scudieri P.; Sham P.; Sheidley B. R.; Shih J. J.; Sills G. J.; Sisodiya S. M.; Smith M. C.; Smith P. E.; Sonsma A. C. M.; Speed D.; Sperling M. R.; Stefansson H.; Stefansson K.; Steinhoff B. J.; Stephani U.; Stewart W. C.; Stipa C.; Striano P.; Stroink H.; Strzelczyk A.; Surges R.; Suzuki T.; Tan K. M.; Taneja R. S.; Tanteles G. A.; Tauboll E.; Thio L. L.; Thomas G. N.; Thomas R. H.; Timonen O.; Tinuper P.; Todaro M.; Topaloglu P.; Tozzi R.; Tsai M. -H.; Tumiene B.; Turkdogan D.; Unnsteinsdottir U.; Utkus A.; Vaidiswaran P.; Valton L.; van Baalen A.; Vetro A.; Vining E. P. G.; Visscher F.; von Brauchitsch S.; von Wrede R.; Wagner R. G.; Weber Y. G.; Weckhuysen S.; Weisenberg J.; Weller M.; Widdess-Walsh P.; Wolff M.; Wolking S.; Wu D.; Yamakawa K.; Yang W.; Yapici Z.; Yucesan E.; Zagaglia S.; Zahnert F.; Zara F.; Zhou W.; Zimprich F.; Zsurka G.; Zulfiqar Ali Q.
Nat Genet
Nature genetics
(2023).
info:cnr-pdr/source/autori:R Stevelink; C Campbell; S Chen; B Abou-Khalil; OM Adesoji; Z Afawi; E Amadori; A Anderson; J Anderson; D M Andrade; G Annesi; P Auce; A Avbersek; M Bahlo ; M D Baker; G Balagura; S Balestrini; International League Against Epilepsy Consortium on Complex Epilepsies:/titolo:GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture/doi:/rivista:Nature genetics (Print)/anno:2023/pagina_da:/pagina_a:/intervallo_pagine:/volume
Speed, D & International League Against Epilepsy Consortium on Complex Epilepsies 2023, 'GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture', Nature Genetics, vol. 55, no. 9, pp. 1471-1482. https://doi.org/10.1038/s41588-023-01485-w
Nature genetics
(2023).
info:cnr-pdr/source/autori:R Stevelink; C Campbell; S Chen; B Abou-Khalil; O
Speed, D & International League Against Epilepsy Consortium on Complex Epilepsies 2023, 'GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture', Nature Genetics, vol. 55, no. 9, pp. 1471-1482. https://doi.org/10.1038/s41588-023-01485-w
Academic Journal
Karen L. Oliver; Ingrid E. Scheffer; Colin A. Ellis; Bronwyn E. Grinton; Samuel F. Berkovic; Melanie Bahlo; Zaid Afawi; Dina Amrom; Eva Andermann; Jocelyn F. Bautista; Susannah T. Bellows; Judith Bluvstein; Gregory D. Cascino; Seo-Kyung Chung; Patrick Cossette; Sarah W. Curtis; Norman Delanty; Orrin Devinsky; Dennis Dlugos; Michael P. Epstein; Catharine Freyer; Micheline Gravel; Rebekah V. Harris; Erin L. Heinzen; Olivia J. Henry; Heidi E. Kirsch; Robert C. Knowlton; Eric H. Kossoff; Rebecca Loeb; Daniel H. Lowenstein; Anthony G. Marson; Heather C. Mefford; Paul V. Motika; Terence J. O'Brien; Ruth Ottman; Juliann M. Paolicchi; Slave Petrovski; William O. Pickrell; Mark I. Rees; Lynette G. Sadleir; Jerry J. Shih; Rani K. Singh; Michael C. Smith; Philip E.M. Smith; Rhys H. Thomas; Judith Weisenberg; Peter Widdess-Walsh; Melodie R. Winawer
EBioMedicine, Vol 109, Iss , Pp 105404- (2024)
Academic Journal
Schnegg, B.; Muster, C.; Wieser, M.; Pavlicek-Bahlo, M.; Wiedermann, S.; Dobner, S.; Bruno, J.; Capek, L.; Potratz, P.; Jenni, H.; Sidler, D.; Chanias, I.; Daskalakis, M.; Consiglio, J.; Schwitz, F.; Thomet, C.; Schwerzmann, M.; Immer, F.; Longnus, S.; Martinelli, M.; Hunziker, L.; Siepe, M.; Reineke, D.
Journal of Heart and Lung Transplantation. 42(4):S218-S218
Academic Journal
Benedikt Bernhard; Giulin Tanner; Davide Garachemani; Aaron Schnyder; Kady Fischer; Adrian T. Huber; Yasaman Safarkhanlo; Anselm W. Stark; Dominik P. Guensch; Jonathan Schütze; Simon Greulich; Jessica A. M. Bastiaansen; Maryam Pavlicek-Bahlo; Dominik C. Benz; Raymond Y. Kwong; Christoph Gräni
Journal of Cardiovascular Magnetic Resonance, Vol 25, Iss 1, Pp 1-14 (2023)
Academic Journal
Katie L. Ayers; Stefanie Eggers; Ben N. Rollo; Katherine R. Smith; Nadia M. Davidson; Nicole A. Siddall; Liang Zhao; Josephine Bowles; Karin Weiss; Ginevra Zanni; Lydie Burglen; Shay Ben-Shachar; Jenny Rosensaft; Annick Raas-Rothschild; Anne Jørgensen; Ralf B. Schittenhelm; Cheng Huang; Gorjana Robevska; Jocelyn van den Bergen; Franca Casagranda; Justyna Cyza; Svenja Pachernegg; David K. Wright; Melanie Bahlo; Alicia Oshlack; Terrence J. O’Brien; Patrick Kwan; Peter Koopman; Gary R. Hime; Nadine Girard; Chen Hoffmann; Yuval Shilon; Amnon Zung; Enrico Bertini; Mathieu Milh; Bochra Ben Rhouma; Neila Belguith; Anu Bashamboo; Kenneth McElreavey; Ehud Banne; Naomi Weintrob; Bruria BenZeev; Andrew H. Sinclair
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Academic Journal
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Academic Journal
Courtney R. Green; Roberto Bonelli; Brendan R.E. Ansell; Simone Tzaridis; Michal K. Handzlik; Grace H. McGregor; Barbara Hart; Jennifer Trombley; Mary M. Reilly; Paul S. Bernstein; Catherine Egan; Marcus Fruttiger; Martina Wallace; Melanie Bahlo; Martin Friedlander; Christian M. Metallo; Marin L. Gantner
Molecular Metabolism, Vol 72, Iss , Pp 101716- (2023)
Academic Journal
Jaramillo, S; Agathangelidis, A; Schneider, C; Bahlo, J; Robrecht, S; Tausch, E; Bloehdorn, J; Hoechstetter, M; Fischer, K; Eichhorst, B
HAEMATOLOGICA. 105(11):2598-2607
Academic Journal
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Maria Stella; van Baalen, Andreas; Valton, Luc; Vaidiswaran, Priya; Utkus, Algirdas; Uğur-İşeri, Sibel; Turkdogan, Dilsad; Tumiene, Birute; Tsai, Meng-Han; Topaloglu, Pınar; Todaro, Marian; Tinuper, Paolo; Timpson, Nicholas John; Timonen, Oskari; Tanteles, George A.; Taneja, Randip S.; Talkowski, Michael E.; Talarico, Mariagrazia; Suzuki, Toshimitsu; Surges, Rainer; Strzelczyk, Adam; Striano, Pasquale; Stipa, Carlotta; Stewart, William C.; Štěrbová, Katalin; Stephani, Ulrich; Steinhoff, Bernhard J.; Stamberger, Hannah; Sperling, Michael R.; Sparks, Kathryn R.; Spalletta, Gianfranco; Solomonson, Matthew; Smoller, Jordan W.; Sisodiya, Sanjay M.; Sills, Graeme J.; Siena, S. Anthony; Shiedley, Beth R.; Sham, Pak C.; Shain, Catherine; Sedláčková, Lucie; Scudieri, Paolo; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schneider, Natascha; Scheffer, Ingrid E.; Schankin, Christoph J.; Schaller, André; Schachter, Steven; Scala, Marcello; Sammarra, Ilaria; Salpietro, Vincenzo; Salmon, Andrea; Salman, Barış; Sadleir, Lynette G.; Saarela, Anni; Ryvlin, Philippe; Rosenow, Felix; Rojas, Enrique; Riva, Antonella; Ring, Susan M.; Rheims, Sylvain; Reinthaler, Eva; Reif, Andreas; Regan, Brigid M.; Rees, Mark I.; Raynes, Hillary R.; Rau, Sarah; Ramirez-Hamouz, Byron; Ragona, Francesca; Rademacher, Annika; Privitera, Michael; Powell, Robert H. W.; Posthuma, Danielle; Pondrelli, Federica; Poduri, Annapurna; Piras, Federica; Piras, Fabrizio; Pippucci, Tommaso; Pinto, Dalila; Pinsky, Rebecca; Pickrell, William O.; Petrovski, Slavé; Pennell, Page B.; Pendziwiat, Manuela; Pato, Michele; Pato, Carlos; Parrini, Elena; Papacostas, Savvas S.; Palotie, Aarno; Özkara, Çiğdem; Owusu-Agyei, Seth; O’Brien, Terence J.; Novod, Sam; Northstone, Kate; Noebels, Jeffrey L.; Newton, Charles R. J. C.; Neubauer, Bernd A.; Neaves, Samuel; Nasreddine, Wassim; Najm, Imad M.; Müller-Schlüter, Karen; Muhle, Hiltrud; Muccioli, Lorenzo; Mostacci, Barbara; Montomoli, Martino; Minardi, Raffaella; Millichap, John J.; Michel, Véronique; Mei, Davide; Meador, Kimford J.; McQuillan, Andrew; McIntosh, Andrew; McGraw, Christopher M.; McGoldrick, Patricia; McCarroll, Steven M.; McArdle, Wendy; Mayer, Thomas; May, Patrick; Matthews, Abigail G.; Marson, Anthony G.; Marques, Paula; Marcuse, Lara; Maillard, Louis; Magri, Stefania; Madia, Francesca; Madeleyn, Rene; Macedo-Souza, Lucia Inês; Lui, Colin H. 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TUDP Study Group & Broad Center for Mendelian Genomics 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 601-617. https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 4, pp. 601-617
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