학술논문
'학술논문'
에서 검색결과 157건 | 목록
1~10
Academic Journal
Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H.; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan
In The American Journal of Human Genetics 7 March 2024 111(3):487-508
Academic Journal
Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K.; Calame, Daniel G.; Misra, Vinod K.; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E.; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M.; Emrick, Lisa; Chung, Wendy K.; Hellmich, Ute A.; Schmidts, Miriam; Lupski, James R.; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Ahmad, Natalie; Fazeli, Walid; Schließke, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Dangerfield, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja
In Pediatric Neurology November 2023 148:164-171
Book
In Treatment of Skin Disease Edition: Sixth Edition. 2022:578-580
Academic Journal
Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K.; Calame, Daniel G.; Misra, Vinod K.; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E.; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M.; Emrick, Lisa; Chung, Wendy K.; Hellmich, Ute A.; Schmidts, Miriam; Lupski, James R.; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Huebner, Christian A.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Ha, Thoa; Morgan, Angela; Bartos, Meghan N.; Beatty, Katelyn; Cogne, Benjamin; Braun, Dominique; Gerber, Celine B.; Gaspar, Harald; Kopps, Anna M.; Rieubland, Claudine; Hurst, Anna C. E.; Amor, David J.; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, Andre; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L.; Vincent, Marie; de Vries, Bert B. A.; Walsh, Matthew B.; Wechsler, Stephanie Burns; Zweier, Christiane; Schnur, Rhonda E.; Guillen Sacoto, Maria J.; Margot, Henri; Masotto, Barbara; Palafoll, Maria Irene Valenzuela; Nawaz, Urwah; Voineagu, Irina; Slavotinek, Anne
Abdullah, Anthony; Abel, Mary Kathryn; Abudu, Boya; Abu-Hilal, Mohannad; Al Hammadi, Anwar; Al Awadhi, Ameen; Alexis, Andrew F.; Aljefri, Khadija; Al-Kutubi, Huda; Almazan, Timothy H.; Almohssen, Amer Ali; Alpsoy, Erkan; Ameen, Mahreen; Anderson, Bryan E.; Anshelevich, Ellen; Bacik, Lindsay C.; Baker, Donald J.; Banach, David; Banfield, Cedric C.; Baran, Robert; Barankin, Benjamin; Barkham, Melissa C.; Bauer, Johann W.; Begun, Zoe; Bell, Michael A.; Benton, Emma; Bergfeld, Wilma F.; Berman, Brian; Berth-Jones, John; Bhate, Chinmoy; Bhatia, Bhavnit K.; Bilgiç, Asli; Bitterman, Avi; Black, Samantha; Blume, Jonathan E.; Bohelay, Gérôme; Bordet, Nevianna; Brodell, Robert T.; Brown, Marc D.; Brownstone, Nicholas D.; Burdick, Anne E.; Butala, Niraj; Callen, Jeffrey P.; Camacho, Ivan D.; Camasmie, Helena; Caplivski, Daniel; Cappell, Mitchell S.; Casey, Genevieve A.; Caux, Frédéric; Chan, Cynthia X.; Chan, Lawrence S.; Chan, Loi-Yuen; Chan, Stephanie; Chao, Kevin Young; Chen, Jennifer K.; Child, Fiona J.; Choate, Keith; Chosidow, Olivier; Chousakos, Emmanouil; Chuh, Antonio A.T.; Cices, Ahuva; Cobos, Gabriela A.; Cohen, Steven R.; Collier, Nicholas; Cooper, Elizabeth A.; Coulson, Ian H.; Cowen, Edward W.; Craiglow, Brittany; Cruz, Ponciano D., Jr.; Cummins, Donna; Cusack, Carrie Ann R.; Daniel, Benjamin S.; Daunton, Adam R.A.; Davis, Mark D.P.; Dawe, Robert S.; D’Cruz, David P.; de Berker, David; de Brito, Marianne; De Maeseneer, Hannelore; de Moll, Ellen H.; Decker, Ashley; DeHoratius, Danielle M.; Del Rosso, James Q.; Desai, Seemal R.; Dhawan, Gaurav K.; DiGiovanna, John J.; Dodiuk-Gad, Roni P.; Duffy, Robert F.; Dummer, Reinhard; Dunn, Annie; Duong, Tu-Anh; Dutz, Jan P.; Eichenfield, Dawn Z.; Eichenfield, Lawrence F.; Eisen, Drore; Elman, Scott A.; Elston, Dirk M.; Elyoussfi, Sarah; Emanuel, Patrick O.M.; Enos, Clinton W.; Noliza Encarnacion, Maria Rosa; Epstein, Ervin H., Jr.; Farberg, Aaron S.; Farrugia, Michael E.; Fassihi, Hiva; Fawaz, Bilal; Feigenbaum, Lawrence S.; Felmingham, Claire; Femia, Alisa; Fenner, Justine; Ferguson, Felicity; Fett, Nicole; Finlay, Andrew Y.; Firooz, Alireza; Firoz, Bahar F.; Flischel, Amy E.; Forrestel, Amy; Foley, Kelly A.; Fourzali, Kayla; Frare, Cindy P.; Freedman, Derek; Frey, Surina; Fried, Richard; Friedman, Adam J.; Fuller, L. Claire; Gabel, Colleen; Gach, Joanna E.; Ganesh, Jaya; Ganjoo, Shikhar; Gao, Jing Mia; Gaspari, Anthony A.; Glaser, Katherine; Goenaga-Vázquez, Yamila; Goldberg, Leonard H.; Goldfarb, Johanna; González Barreto, Reina M.; Goon, Peter K.C.; Gottlieb, Alice B.; Gowda, Asha; Grada, Ayman A.; Grande, Donald J.; Grant, Matthew; Grattan, Clive E.H.; Green, Justin J.; Grimes, Pearl E.; Gropper, Charles A.; Grossberg, Anna L.; Gupta, Aditya K.; Guttman-Yassky, Emma; Guzman, Anthony K.; Haddadi, Nazgol-Sadat; Hadi, Ali S.; Hadi, Suhail M.; Hagans, Iris A.; Hairston, Bethany R.; Halpern, Analisa Vincent; Halverstam, Caroline; Haque, Emily; Harries, Matthew; Harris, John E.; Haw, William; Hazan, Ezra; Heaton, Henry; Hebert, Adelaide A.; Helm, Matthew F.; Helms, Stephen E.; Hexsel, Camille L.; Hexsel, Doris M.; Heymann, Warren R.; High, Whitney A.; Hoffman, Melissa; Horenstein, Marcelo G.; Hurst, Eva A.; Hussain, Walayat; Ibbotson, Sally H.; Ibrahim, Sherrif F.; Inamadar, Arun C.; Ingen-Housz-Oro, Saskia; Iorizzo, Matilde; Jacobe, Heidi; James, William D.; Jemec, Gregor B.E.; Jennings, Tara; Jibbe, Atieh S.; Johnston, Graham A.; Joly, Pascal; Joseph, Adrienne; Kanelleas, Antonios; Karadağ, Ayşe Serap; Katugampola, Ruwani P.; Katz, Bruce E.; Kavanagh, Gina M.; Khan, Sidra S.; Khattri, Saakshi; Khong, Brendan; Khorasani, Hooman; Kim, Ellen J.; Kim, Hee J.; Kim, Youn H.; King, Brett; Kirby, Joslyn S.; Kirby, Lisa; Kirsner, Robert S.; Ko, Lauren; Koch, Dimitra; Koh, Wei-Liang; Koo, John Y.M.; Kopp, Sandra A.; Kouby, Floriane; Kovarik, Carrie; Kraemer, Kenneth H.; Kreeshan, Firas C.; Krishnamurthy, Karthik; Kroshinsky, Daniela; Krueger, Steven; Kvernebo, Knut; Laimer, Martin; Lalor, Leah; Lam, Charlene; Lambert, Peter C.; Lang, Claudia; Lawlor, Frances; Lawrence, Naomi; Layher, Heather; Lebwohl, Mark G.; Lebwohl, Oscar; Lee, Helen; Lehman, Julia S.; Lemieux, Alexandre; Leslie, Tabi A.; Leung, Alexander K.C.; Levitt, Jacob O.; Lewis, Daniel J.; Lewis, Fiona M.; Liaqat, Maryam; Ling, Tsui Chin; Litchman, Graham H.; Liu, Stephanie; Luger, Thomas A.; Luna, Paula C.; Lupi, Omar; Lyon, Calum C.; Maatouk, Ismael; MacGibeny, Margaret A.; Maddukuri, Spandana; Mahmoud, Bassel H.; Makkar, Timothy; Mallett, Richard B.; Malta, Kiana; Manci, Rachel; Mancuso, Jennifer; Manders, Steven; Mann, Jasmine; Marghoob, Ashfaq A.; Markova, Alina; Markowitz, Orit; Martinez, Daniela; Martinka, Michal; Maurer, Marcus; McGee, Jean S.; McLarney, R. Matthew; Meah, Nekma; Metz, Martin; Micali, Giuseppe; Michalik, Daniel; Micheletti, Robert G.; Mirowski, Ginat W.; Mori, Shoko; Mørk, Cato; Morris, Caroline R.; Morton, Colin A.; Motaparthi, Kiran; Muldoon, Eavan G.; Murase, Jenny E.; Murdoch, Michele E.; Murrell, Dedee F.; Muthiah, Shareen; Myers, Bridget; Naeem, Zunaira; Nakamura, Mio; Nambi, Rabindranath; Nasca, Maria R.; Navarrete-Dechent, Cristian; Needham, Glen R.; Nehal, Kishwer; Newell, Glenn C.; Nixon, Rosemary L.; Noy, Mariana L.; Nunns, David; Olbricht, Suzanne M.; Oldenburg, Reid; Orekoya, Fikki; Osborne, Ruth A.; Owen, Cindy E.; Pandya, Amit G.; Papaefthymiou, Vasileios; Paravar, Taraneh; Parish, Jennifer L.; Parish, Lawrence Charles; Perz, Allison M.; Peterson, Danielle; Phelps, Robert G.; Philips, Rebecca C.; Phillips, Tania J.; Poh-Fitzpatrick, Maureen B.; Polansky, Maxim; Pomeranz, Miriam Keltz; Pope, Elena; Privalle, Ashley N.; Prost, Catherine; Que, Syril Keena T.; Quint, Koen; Qureshi, Sumera; Rashid, Rabia S.; Rashighi, Mehdi; Ratnavel, Ravi; Rawi, Sarah; Reddy, Vidhatha; Renzi, Michael A., Jr.; Revuz, Jean; Richard, Gabriele; Rigel, Darrell S.; Rivera, Sydney; Robles, Wanda S.; Rodriguez, Ramiro, Jr.; Rook, Alain H.; Rosen, Ted; Rosenbach, Misha; Rowland, Emma; Rustin, Malcolm; Sadlier, Muriel; Salavastru, Carmen Maria; Samimi, Sara; Sandoval, Erika Romero; Sarkany, Robert P.E.; Scerri, Lawrence; Schimmel, Joshua; Schmults, Chrysalyne D.; Schnur, Rhonda E.; Schoinas, Spyridon; Schwartz, Robert A.; Scorer, Matthew J.; Shah, Kalee; Shah, Nidhi; Shah, Radhika; Shah, Sheevam; Sharif, Jennifer; Shea, Christopher R.; Shear, Neil H.; Sheriff, Tabrez; Shields, Bridget E.; Shimizu, Hiroshi; Shinkai, Kanade; Shiu, Jessica; Shivanna, Ragunatha; Shwayder, Tor; Silverberg, Nanette; Sinclair, Rodney; Singal, Archana; Smith, Janellen; Snyder, Margaret L.; Sommer, Lacy L.; Soter, Nicholas A.; Stanger, Roselyn K.; Stoll, Joseph R.; Sun, Qisi; Sunderkötter, Cord; Swali, Ritu; Taibjee, Saleem M.; Talasila, Sreya; Talebi-Liasi, Faezeh; Tamura, Deborah; Tan, Eunice; Y.-M. Tang, William; Thibodeaux, Quinn; Tian, Tina M.; Tiplica, George Sorin; Tkachenko, Elizabeth; Tolkachjov, Stanislav N.; Tolliver, Starling D.; Tomecki, Kenneth; Torgerson, Rochelle R.; Tosti, Antonella; Tsuji-Abe, Yukiko; Twaij, Sara; Tyring, Stephen K.; van de Kerkhof, Peter; Van Gysel, Dirk; Van Voorhees, Abby S.; Varma, Aakaash; Vasani, Resham; Verma, Shyam B.; Vermeer, Maarten H.; Vieira, Carlos; Vignes, Stéphane; Vleugels, Ruth Ann; Wallengren, Joanna; Wanat, Karolyn A.; Wang, Erica B.; Wei, Chapman; Weichert, Gabriele; Weigelt, Maximillian A.; Weinberg, Jeffrey M.; Weitzer, Danielle; Welponer, Tobias; Werth, Victoria P.; White, Lucile E.; Wilkin, Jonathan K.; Wilson, Niall; Wiznia, Lauren E.; Wollenberg, Andreas; Wollina, Uwe; Chun Wong, Junie Li; Wright, Andrew L.; Wynne, Matthew; Yan, Daisy; Yosipovitch, Gil; Youssef, Molly J.; Zaenglein, Andrea L.; Zaki, Irshad; Zarbo, Allison; Zawar, Vijay; Zhu, Jane L.; Zone, John J.; Zuberbier, Torsten
In Treatment of Skin Disease Edition: Sixth Edition. 2022:xiii-xxvi
Book
In Treatment of Skin Disease Edition: Fifth Edition. 2018:559-561
Book
In Treatment of Skin Disease Edition: Fifth Edition. 2018:268-271
Academic Journal
Adutwum, Michelle; Hurst, Anna; Mirzaa, Ghayda; Kushner, Jessica D.; Rogers, Caleb; Khalek, Nahla; Cristancho, Ana G.; Burrill, Natalie; Seifert, Michael E.; Scarano, Maria I.; Schnur, Rhonda E.; Slavotinek, Anne
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[AR] Schnur, Rhonda E.
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