학술논문
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'학술논문'
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Gregory Scott Aaen; Nicholas S. Abend; Laura Ann Adang; Amina Ahmed; Ayse Akcan Arikan; Kimberly A. Aldinger; Elizabeth Alva; Kimberly Amburgey; Catherine Amlie-Lefond; Susan Apkon; Bhooma Aravamuthan; Thaís Armangué; Ravindra Arya; Stephen Ashwal; Samieh Askari; Erika Fullwood Augustine; Paul Avan; Robert A. Avery; Erika J.T. Axeen; Brenda Banwell; Kristin W. Barañano; Matthew J. Barkovich; Ute Katharina Bartels; Ori Barzilai; Beatrice Battistini; David R. Bearden; Liat Ben-Sira; Timothy J. Bernard; Elizabeth Berry-Kravis; Lauren A. Beslow; Joanna S. Blackburn; Beatrice Bocca; Varina Louise Boerwinkle; Jeffrey Bolton; Sonia Lomeli Bonifacio; Daniel J. Bonthius; Glendaliz Bosques; Brian R. Branchford; John F. Brandsema; Kathryn M. Brennan; J. Nicholas Brenton; Laura Brickman; Christina Briscoe Abath; Jordan Broman-Fulks; Audrey C. Brumback; Jeffrey Buchhalter; Carsten G. Bönnemann; Daniel G. Calame; Carol S. Camfield; Peter R. 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Swaiman's Pediatric Neurology ISBN: 9780443109447
Book
Swaiman's Pediatric Neurology ISBN: 9780443109447
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Ghayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
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Pierre Tilliole; Carolin Mattausch; Peggy Tilly; Elsa Leitão; Lucile Boutaud; Daphné Lehalle; Isabelle An; Emanuela Argilli; Sharon Aufox; Bert Callewaert; Perrine Charles; Jessica K. Cinkornpumin; Thomas Courtin; Marco Dalla Vecchia; Erica E. Davis; Boyan Ivanov Dimitrov; William Dobyns; Ekaterina Epifanova; Erwan Grandgirard; Matthieu Jung; Sarah Jurgensmeyer Langas; Sabine Kaya; Boris Keren; Tahir N. Khan; Elodie Lejeune; Mingfeng Li; Yannick Marie; Bastien Morlet; Caroline Nava; William A. Pastor; Damien Plassard; Carlos E. Prada; Agnès Rastetter; Noémie Schwaller; Nenad Sestan; Elliott Sherr; Suzanna L. Temple; Jude-Felix Tenywa; Sylvia Tielens; Arie van Haeringen; Helen Whitley; Laurent Nguyen; Laura Steenpaß; Muriel Rhinn; Stephan C. Collins; Delphine Héron; Valerie Cormier-Daire; Tania Attie-Bitach; Binnaz Yalcin; Christel Depienne; Juliette D. Godin
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Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle
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Christine P, Shen; Monica, Romero; Alexander, Brunelle; Craig, Wolfe; Abigail, Dobyns; Michael, Francis; Mark S, Taylor; Jose L, Puglisi; Lawrence D, Longo; Lubo, Zhang; Christopher G, Wilson; Sean M, Wilson
American Journal of Physiology-Regulatory, Integrative and Comparative Physiology. 314:R433-R446
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Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
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Angela Peron; Felice D’Arco; Kimberly A. Aldinger; Constance Smith-Hicks; Christiane Zweier; Gyri A. Gradek; Kimberley Bradbury; Andrea Accogli; Erica F. Andersen; Ping Yee Billie Au; Roberta Battini; Daniah Beleford; Lynne M. Bird; Arjan Bouman; Ange-Line Bruel; Øyvind Løvold Busk; Philippe M. Campeau; Valeria Capra; Colleen Carlston; Jenny Carmichael; Anna Chassevent; Jill Clayton-Smith; Michael J. Bamshad; Dawn L. Earl; Laurence Faivre; Christophe Philippe; Patrick Ferreira; Luitgard Graul-Neumann; Mary J. Green; Darrah Haffner; Parthiv Haldipur; Suhair Hanna; Gunnar Houge; Wendy D. Jones; Cornelia Kraus; Birgit Elisabeth Kristiansen; James Lespinasse; Karen J. Low; Sally Ann Lynch; Sofia Maia; Rong Mao; Ruta Kalinauskiene; Catherine Melver; Kimberly McDonald; Tara Montgomery; Manuela Morleo; Constance Motter; Amanda S. Openshaw; Janice Cox Palumbos; Aditi Shah Parikh; Yezmin Perilla-Young; Cynthia M. Powell; Richard Person; Megha Desai; Juliette Piard; Rolph Pfundt; Marcello Scala; Margaux Serey-Gaut; Deborah Shears; Anne Slavotinek; Mohnish Suri; Claire Turner; Tatiana Tvrdik; Karin Weiss; Ingrid M. Wentzensen; Marcella Zollino; Tzung-Chien Hsieh; Keri Ramsey; Bert B. A. de Vries; Francois Guillemot; William B. Dobyns; David Viskochil; Cristina Dias
Eur J Hum Genet
European Journal of Human Genetics, 33, 3, pp. 312-324
European Journal of Human Genetics, vol 33, iss 3
European Journal of Human Genetics, 33, 3, pp. 312-324
European Journal of Human Genetics, vol 33, iss 3
Review
Human Organization, 1972 Dec 01. 31(4), 457-462.
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Corrina S. Fonseca; Suzanne L. Baker; Lindsey Dobyns; Mustafa Janabi; William J. Jagust; Theresa M. Harrison
Alzheimers Dement
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Metry, Denise ; Copp, Hillary L. ; Rialon, Kristy L. ; Iacobas, Ionela ; Baselga, Eulalia ; Dobyns, William B. ; Drolet, Beth ; Frieden, Ilona J. ; Garzon, Maria ; Haggstrom, Anita ; Hanson, Darrell ; Hollenbach, Laura ; Keppler-Noreuil, Kim M. ; Maheshwari, Mohit ; Siegel, Dawn H. ; Waseem, Shamaila ; Dias, Mark
In The Journal of Pediatrics September 2024 272
Academic Journal
Rodriguez-Palmero A.; Boerrigter M. M.; Gomez-Andres D.; Aldinger K. A.; Marcos-Alcalde I.; Popp B.; Everman D. B.; Lovgren A. K.; Arpin S.; Bahrambeigi V.; Beunders G.; Bisgaard A. -M.; Bjerregaard V. A.; Bruel A. -L.; Challman T. D.; Cogne B.; Coubes C.; de Man S. A.; Denomme-Pichon A. -S.; Dye T. J.; Elmslie F.; Feuk L.; Garcia-Minaur S.; Gertler T.; Giorgio E.; Gruchy N.; Haack T. B.; Haldeman-Englert C. R.; Haukanes B. I.; Hoyer J.; Hurst A. C. E.; Isidor B.; Soller M. J.; Kushary S.; Kvarnung M.; Landau Y. E.; Leppig K. A.; Lindstrand A.; Kleinendorst L.; MacKenzie A.; Mandrile G.; Mendelsohn B. A.; Moghadasi S.; Morton J. E.; Moutton S.; Muller A. J.; O'Leary M.; Pacio-Miguez M.; Palomares-Bralo M.; Parikh S.; Pfundt R.; Pode-Shakked B.; Rauch A.; Repnikova E.; Revah-Politi A.; Ross M. J.; Ruivenkamp C. A. L.; Sarrazin E.; Savatt J. M.; Schluter A.; Schonewolf-Greulich B.; Shad Z.; Shaw-Smith C.; Shieh J. T.; Shohat M.; Spranger S.; Thiese H.; Mau-Them F. T.; van Bon B.; van de Burgt I.; van de Laar I. M. B. H.; van Drie E.; van Haelst M. M.; van Ravenswaaij-Arts C. M.; Verdura E.; Vitobello A.; Waldmuller S.; Whiting S.; Zweier C.; Prada C. E.; de Vries B. B. A.; Dobyns W. B.; Reiter S. F.; Gomez-Puertas P.; Pujol A.; Tumer Z.
Genetics in Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, AL , Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L , García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L , MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L , Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns , W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, 'DLG4-related synaptopathy : a new rare brain disorder', Genetics in Medicine, vol. 23, no. 5, pp. 888-899. https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A
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Donaldson C, Lee; Thomas R, Vetter; Jeffrey B, Dobyns; Sandra J, Crump; David L, Benz; Roland T, Short; Dale A, Parks; T Mark, Beasley; Amandiy, Liwo
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Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola ; Boschann, Felix ; Ngu, Angelina My-Hoa ; Meloche, Elisabeth ; Chorfi, Sarah ; Lakhani, Saquib A. ; Ji, Weizhen ; Steiner, Laurie ; Marcadier, Julien ; Jansen, Philip R. ; van de Pol, Laura A. ; van Hagen, Johanna M. ; Russi, Alvaro Serrano ; Le Guyader, Gwenaël ; Nordenskjöld, Magnus ; Nordgren, Ann ; Anderlid, Britt-Marie ; Plaisancié, Julie ; Stoltenburg, Corinna ; Horn, Denise ; Drenckhahn, Anne ; Hamdan, Fadi F. ; Lefebvre, Mathilde ; Attie-Bitach, Tania ; Forey, Peggy ; Smirnov, Vasily ; Ernould, Françoise ; Jacquemont, Marie-Line ; Grotto, Sarah ; Alcantud, Alberto ; Coret, Alicia ; Ferrer-Avargues, Rosario ; Srivastava, Siddharth ; Vincent-Delorme, Catherine ; Romoser, Shelby ; Safina, Nicole ; Saade, Dimah ; Lupski, James R. ; Calame, Daniel G. ; Geneviève, David ; Chatron, Nicolas ; Schluth-Bolard, Caroline ; Myers, Kenneth A. ; Dobyns, William B. ; Calvas, Patrick ; Salmon, Caroline ; Holt, Richard ; Elmslie, Frances ; Allaire, Marc ; Prigozhin, Daniil M. ; Tremblay, André ; Michaud, Jacques L.
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Academic Journal
Khalaf-Nazzal, R.; Fasham, J.; Inskeep, K. A.; Blizzard, L. E.; Leslie, J. S.; Wakeling, M. N.; Ubeyratna, N.; Mitani, T.; Griffith, J. L.; Baker, W.; Al-Hijawi, F.; Keough, K. C.; Gezdirici, A.; Pena, L.; Spaeth, C. G.; Turnpenny, P. D.; Walsh, J. R.; Ray, R.; Neilson, A.; Kouranova, E.; Cui, X.; Curiel, D. T.; Pehlivan, D.; Akdemir, Z. C.; Posey, J. E.; Lupski, J. R.; Dobyns, W. B.; Stottmann, R. W.; Crosby, A. H.; Baple, E. L.
Am J Hum Genet
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Alexander M. Holtz; Rachel VanCoillie; Elizabeth A. Vansickle; Deanna Alexis Carere; Kara Withrow; Erin Torti; Jane Juusola; Francisca Millan; Richard Person; Maria J. Guillen Sacoto; Yue Si; Ingrid M. Wentzensen; Jada Pugh; Georgia Vasileiou; Melissa Rieger; André Reis; Emanuela Argilli; Elliott H. Sherr; Kimberly A. Aldinger; William B. Dobyns; Theresa Brunet; Julia Hoefele; Matias Wagner; Benjamin Haber; Urania Kotzaeridou; Boris Keren; Delphine Heron; Cyril Mignot; Solveig Heide; Thomas Courtin; Julien Buratti; Serini Murugasen; Kirsten A. Donald; Emily O’Heir; Shade Moody; Katherine H. Kim; Barbara K. Burton; Grace Yoon; Miguel del Campo; Diane Masser-Frye; Mariya Kozenko; Christina Parkinson; Susan L. Sell; Patricia L. Gordon; Jeremy W. Prokop; Amel Karaa; Caleb Bupp; Benjamin A. Raby
Genet. Med. 24, 2065-2078 (2022)
Genetics in Medicine, vol 24, iss 10
Genetics in Medicine, vol 24, iss 10
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[검색어] Dobyns, L.
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