학술논문
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공정이용 지침
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'학술논문'
에서 검색결과 390건 | 목록
1~20
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Torti, Erin; Mullegama, Sureni V.; De Bie, Isabelle; Mercier, Angelique; Carere, Deanna Alexis; Folk, Leandra; Juusola, Jane; Monaghan, Kristin G.; Wentzensen, Ingrid M.; Redlich, Olivia L.; Reich, Adi; McGivern, Bobbi
Human Genetics and Genomics Advances. 6(2)
Academic Journal
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)
Academic Journal
McGivern, Bobbi; Holling, Tess; Guillen Sacoto, Maria J.; Gudbjartsson, Hákon; Abdelrazek, Ibrahim M.; Alawi, Malik; Bai, Yan; Bodamer, Olaf; Crunk, Amy; Dameron, Amy E.; Dyer, Lisa M.; Henderson, Lindsay B.; Irons, Mira; Kutsche, Kerstin; McGowan, Caroline; Monaghan, Kristin G.; O’Connor, Kaitlyn; Rashid, Asma; Redlich, Olivia L.; Reich, Adi; Simotas, Christopher; Welner, Sara; Wentzensen, Ingrid M.
Human Genetics and Genomics Advances. 6(3)
Academic Journal
Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Soler, Nicole Pimentel; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.
Obstetrical & Gynecological Survey. Jul 01, 2025 80(7):406-408
Academic Journal
Cope, Heidi L.; Jalazo, Elizabeth R.; Berg, Jonathan S.; Sullivan, Jennifer A.; Kucera, Katerina S.; Shone, Scott M.; Frawley, Hannah E.; Gwaltney, Angela Y.; Forsythe, Ana N.; Migliore, Brooke A.; Wright, Becca; Moultrie, Rebecca R.; Milko, Laura V.; Zimmerman, Rebekah S.; Kruszka, Paul; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Monaghan, Kristin G.; Kraczkowski, Christina; Guenzel, Adam J.; McWalter, Kirsty; Hruska, Kathleen S.; Bailey, Jr, Donald B.; Wheeler, Anne C.; Raspa, Melissa; Powell, Cynthia M.; Peay, Holly L.
Nature Medicine. 31(11):3762-3771
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
McGivern, Bobbi; Morrow, Michelle M.; Torti, Erin; McWalter, Kirsty; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Gerard, Amanda; Robak, Laurie; Chitayat, David; Botsford, Claire; Jurgensmeyer, Sarah; Leahy, Peter; Kruszka, Paul
Human Genetics and Genomics Advances. 6(1)
Academic Journal
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P C; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W; Shashi, Vandana; Sullivan, Jennifer A; Peron, Angela; Iascone, Maria; Canevini, Maria P; Friedman, Jennifer; Reyes, Iris A; Kierstein, Janell; Shen, Joseph J; Ahmed, Faria N; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G; Rousseau, Justine; Myers, Kenneth A; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M
Am J Hum Genet
American Journal of Human Genetics, vol 111, iss 7
American Journal of Human Genetics, vol 111, iss 7
Academic Journal
Zerafati-Jahromi, Gazelle ; Oxman, Elias ; Hoang, Hieu D. ; Charng, Wu-Lin ; Kotla, Tanvitha ; Yuan, Weimin ; Ishibashi, Keito ; Sebaoui, Sonia ; Luedtke, Kathryn ; Winrow, Bryce ; Ganetzky, Rebecca D. ; Ruiz, Anna ; Manso-Basúz, Carmen ; Spataro, Nino ; Kannu, Peter ; Athey, Taryn ; Peroutka, Christina ; Barnes, Caitlin ; Sidlow, Richard ; Anadiotis, George ; Magnussen, Kari ; Valenzuela, Irene ; Moles-Fernandez, Alejandro ; Berger, Seth ; Grant, Christina L. ; Vilain, Eric ; Arnadottir, Gudny A. ; Sulem, Patrick ; Sulem, Telma S. ; Stefansson, Kari ; Massey, Shavonne ; Ginn, Natalie ; Poduri, Annapurna ; D’Gama, Alissa M. ; Valentine, Rozalia ; Trowbridge, Sara K. ; Murali, Chaya N. ; Franciskovich, Rachel ; Tran, Yen ; Webb, Bryn D. ; Keppler-Noreuil, Kim M. ; Hall, April L. ; McGivern, Bobbi ; Monaghan, Kristin G. ; Guillen Sacoto, Maria J. ; Baldridge, Dustin ; Silverman, Gary A. ; Dahiya, Sonika ; Turner, Tychele N. ; Schedl, Tim ; Corbin, Joshua G. ; Pak, Stephen C. ; Zohn, Irene E. ; Gurnett, Christina A.
In The American Journal of Human Genetics 6 March 2025 112(3):537-553
Academic Journal
van Oirsouw, Amber S.E. ; Nedbalova, Pavla ; Hancarova, Miroslava ; Prchal, Jan ; Prchalova, Darina ; Vlckova, Marketa ; Bendova, Sarka ; Monaghan, Kristin G. ; Dyer, Lisa M. ; Chen, Yanmin ; Carere, Deanna Alexis ; te Bogt, Emma A.M. ; Fisher, Heather ; Scheuerle, Angela E. ; Riley, Stephanie ; Jain, Mahim ; Mu, Weiyi ; Bodurtha, Joann N. ; van Eerde, Albertien M. ; Stokman, Marijn F. ; Longo, Nicola ; Balasubramanian, Meena ; Spiller, Michael ; Costain, Gregory ; Lippe, Charlotte von der ; Tveten, Kristian ; Jortveit, Marianne ; Holla, Øystein L. ; Isidor, Bertrand ; Cogné, Benjamin ; Glinton, Kevin E. ; Vuocolo, Blake ; Sierra, Roberta Ann ; Angle, Brad ; Bontempo, Kelly ; Koop, Klaas ; Rabin, Rachel ; Pappas, John ; Staffenberg, David A. ; Joset, Pascal ; Miny, Peter ; Filges, Isabel ; Alali, Abdulrazak ; Vitalone, Kara ; Rosenfeld, Jill A. ; Bi, Weimin ; Bradbrook, Samuel ; Perrier, Renee ; Ramanathan, Subhadra ; Gold, June-Anne ; Bralo, María Palomares ; Gómez-Cano, María Ángeles ; Olney, Ann Haskins ; Nielsen, Shelly ; Ziegler, Alban ; Bonneau, Dominique ; Prouteau, Clément ; Bruel, Ange-Line ; Caille-Benigni, Charlotte ; Lambert, Laëtitia ; Yu, Andrea C. ; Robin, Nathaniel H. ; Goodloe, Dana ; Fischer, Jan ; Porrmann, Joseph ; Hennig, Yvonne D. ; Jamra, Rami Abou ; Herman, Isabella ; Johnson, Ivy R. ; Hérissant, Lucas ; Jouret, Guillaume ; van Gassen, Koen L.I. ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Kamermans, Alwin ; Oegema, Renske ; Sedlacek, Zdenek ; Fenckova, Michaela ; van Jaarsveld, Richard H.
In Genetics in Medicine August 2025
Academic Journal
Cope, Heidi L. ; Milko, Laura V. ; Jalazo, Elizabeth R. ; Crissman, Blythe G. ; Foreman, Ann Katherine M. ; Powell, Bradford C. ; deJong, Neal A. ; Hunter, Jessica Ezzell ; Boyea, Beth Lincoln ; Forsythe, Ana N. ; Wheeler, Anne C. ; Zimmerman, Rebekah S. ; Suchy, Sharon F. ; Begtrup, Amber ; Langley, Katherine G. ; Monaghan, Kristin G. ; Kraczkowski, Christina ; Hruska, Kathleen S. ; Kruszka, Paul ; Kucera, Katerina S. ; Berg, Jonathan S. ; Powell, Cynthia M. ; Peay, Holly L.
In Genetics in Medicine December 2024 26(12)
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Academic Journal
Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B. ; Alkhunaizi, Ebba ; Brandt, Tracy ; Chitayat, David A. ; DeFilippo, Colette P. ; Douglas, Ganka V. ; Dubbs, Holly A. ; Elloumi, Houda Zghal ; Glassford, Megan R. ; Hannibal, Mark C. ; Héron, Bénédicte ; Kim, Linda E. ; Marco, Elysa J. ; Mignot, Cyril ; Monaghan, Kristin G. ; Myers, Kenneth A. ; Parikh, Sumit ; Quinonez, Shane C. ; Rajabi, Farrah ; Shankar, Suma P. ; Shinawi, Marwan S. ; van de Kamp, Jiddeke J.P. ; Veerapandiyan, Aravindhan ; Waldman, Amy T. ; Graf, William D.
In Pediatric Neurology January 2022 126:65-73
Academic Journal
Deignan, Joshua L. ; Gregg, Anthony R. ; Grody, Wayne W. ; Guo, Michael H. ; Kearney, Hutton ; Monaghan, Kristin G. ; Raraigh, Karen S. ; Taylor, Jennifer ; Zepeda-Mendoza, Cinthya J. ; Ziats, Catherine
In Genetics in Medicine August 2023 25(8)
Academic Journal
Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra ; Malinowski, Jennifer ; Akkari, Yassmine M.N. ; Monaghan, Kristin G. ; Erwin, Angelika ; Best, Robert G.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Saida, Ken ; Maroofian, Reza ; Sengoku, Toru ; Mitani, Tadahiro ; Pagnamenta, Alistair T. ; Marafi, Dana ; Zaki, Maha S. ; O’Brien, Thomas J. ; Karimiani, Ehsan Ghayoor ; Kaiyrzhanov, Rauan ; Takizawa, Marina ; Ohori, Sachiko ; Leong, Huey Yin ; Akay, Gulsen ; Galehdari, Hamid ; Zamani, Mina ; Romy, Ratna ; Carroll, Christopher J. ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Malek, Hadis ; Ahangari, Najmeh ; Tomoum, Hoda ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Murphy, David ; Dominik, Natalia ; Elbendary, Hasnaa M. ; Rafat, Karima ; Yilmaz, Sanem ; Kanmaz, Seda ; Serin, Mine ; Krishnakumar, Deepa ; Gardham, Alice ; Maw, Anna ; Rao, Tekki Sreenivasa ; Alsubhi, Sarah ; Srour, Myriam ; Buhas, Daniela ; Jewett, Tamison ; Goldberg, Rachel E. ; Shamseldin, Hanan ; Frengen, Eirik ; Misceo, Doriana ; Strømme, Petter ; Magliocco Ceroni, José Ricardo ; Kim, Chong Ae ; Yesil, Gozde ; Sengenc, Esma ; Guler, Serhat ; Hull, Mariam ; Parnes, Mered ; Aktas, Dilek ; Anlar, Banu ; Bayram, Yavuz ; Pehlivan, Davut ; Posey, Jennifer E. ; Alavi, Shahryar ; Madani Manshadi, Seyed Ali ; Alzaidan, Hamad ; Al-Owain, Mohammad ; Alabdi, Lama ; Abdulwahab, Ferdous ; Sekiguchi, Futoshi ; Hamanaka, Kohei ; Fujita, Atsushi ; Uchiyama, Yuri ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Miyake, Noriko ; Elshafie, Reem M. ; Salayev, Kamran ; Guliyeva, Ulviyya ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Monaghan, Kristin G. ; Langley, Katherine G. ; Yang, Hui ; Motavaf, Mahsa ; Safari, Saeid ; Alipour, Mozhgan ; Ogata, Kazuhiro ; Brown, André E.X. ; Lupski, James R. ; Houlden, Henry ; Matsumoto, Naomichi
In Genetics in Medicine January 2023 25(1):90-102
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldrich, Madison P.; Grajewski, Alana; Gutierrez, Irma; Hadley, Don; Hahn, Sihoun; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Nakano-Okuno, Mariko; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Raper, Anna; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L.M.; Queenie, K.-G.; Tekin, Tan, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz-Hubshman, Monika; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zastrow, Diane B.; Zhang, Zhe; Zhao, Chunli; Zuchner, Stephan; Bellen, Hugo; Mahoney, Rachel; Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise ; Egense, Alena ; Willis, Brandon ; Hörberg, Johanna ; AlAbdi, Lama ; Mayer, Klaus ; Ütkür, Koray ; Monaghan, Kristin G. ; Krier, Joel ; Stoler, Joan ; Alnemer, Maha ; Shankar, Prabhu R. ; Schaffrath, Raffael ; Alkuraya, Fowzan S. ; Brinkmann, Ulrich ; Eriksson, Leif A. ; Lloyd, Kent ; Rauen, Katherine A.
In Genetics in Medicine July 2022 24(7):1567-1582
Academic Journal
de Boer, Elke; Ockeloen, Charlotte; Kampen, Rosalie; Hampstead, Juliet; Dingemans, Alexander; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denommé‐pichon, Anne‐sophie; Devinsky, Orrin; Dubourg, Christèle; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Geneviève, David; Goos, Jacqueline A.C.; Helm, Benjamin; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaëtan; Lynch, Sally-Ann; Mathijssen, Irene M.J.; Mcgowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W.E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter; Stegmann, Alexander; Swagemakers, Sigrid M.A.; Valenzuela, Irene; Viora-Dupont, Eléonore; Vitobello, Antonio; Ware, Stephanie; Wéber, Mathys; Gilissen, Christian; Low, Karen; Fisher, Simon; Vissers, Lisenka E.L.M.; Wong, Maggie M.K.; Kleefstra, Tjitske
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca,G , Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan , K G , Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, 'Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064. https://doi.org/10.1016/j.gim.2022.06.007
Genet Med.
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca,
Genet Med.
Academic Journal
Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand
In Genetics in Medicine September 2022 24(9):1941-1951
Academic Journal
Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H. ; de Lange, Iris M. ; van der Smagt, Jasper J. ; Wilson, Golder N. ; Dubbs, Holly ; Goldberg, Ethan M. ; Zitano, Lia ; Bupp, Caleb ; Martinez, Jose ; Srour, Myriam ; Accogli, Andrea ; Alhakeem, Afnan ; Meltzer, Meira ; Gropman, Andrea ; Brewer, Carole ; Caswell, Richard C. ; Montgomery, Tara ; McKenna, Caoimhe ; McKee, Shane ; Powell, Corinna ; Vasudevan, Pradeep C. ; Brady, Angela F. ; Joss, Shelagh ; Tysoe, Carolyn ; Noh, Grace ; Tarnopolsky, Mark ; Brady, Lauren ; Zafar, Muhammad ; Schrier Vergano, Samantha A. ; Murray, Brianna ; Sawyer, Lindsey ; Hainline, Bryan E. ; Sapp, Katherine ; DeMarzo, Danielle ; Huismann, Darcy J. ; Wentzensen, Ingrid M. ; Schnur, Rhonda E. ; Monaghan, Kristin G. ; Juusola, Jane ; Rhodes, Lindsay ; Dobyns, William B. ; Lecoquierre, Francois ; Goldenberg, Alice ; Polster, Tilman ; Axer-Schaefer, Susanne ; Platzer, Konrad ; Klöckner, Chiara ; Hoffman, Trevor L. ; MacArthur, Daniel G. ; O’Leary, Melanie C. ; VanNoy, Grace E. ; England, Eleina ; Varghese, Vinod C. ; Mefford, Heather C.
In Genetics in Medicine May 2021 23(5):881-887
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