학술논문
'학술논문'
에서 검색결과 126건 | 목록
30~40
Academic Journal
Schnur, Rhonda E.; Yousaf, Sairah; Liu, James; Chung, Wendy K.; Rhodes, Lindsay; Marble, Michael; Zambrano, Regina M.; Sobreira, Nara; Jayakar, Parul; Pierpont, Mary Ella; Schultz, Matthew J.; Pichurin, Pavel N.; Olson, Rory J.; Graham, Gail E.; Osmond, Matthew; Contreras-García, Gustavo A.; Campo-Neira, Karina A.; Peñaloza-Mantilla, Camilo A.; Flage, Mark; Kuppa, Srikar; Navarro, Karina; Sacoto, Maria J. Guillen; Wentzensen, Ingrid M.; Scarano, Maria I.; Juusola, Jane; Prada, Carlos E.; Hufnagel, Robert B.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1624-1635
Academic Journal
Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxová, Alice; Bendová, Šárka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hančárová, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magriña, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedláček, Zdeněk; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(7):1234-1245
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.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(5):881-887
Periodical
Bend, Renee; Cohen, Lior; Carter, Melissa T.; Lyons, Michael J.; Niyazov, Dmitriy; Mikati, Mohamad A.; Rojas, Samantha K.; Person, Richard E.; Si, Yue; Wentzensen, Ingrid M.; Torti, Erin; Lee, Jennifer A.; Boycott, Kym M.; Basel-Salmon, Lina; Ferreira, Carlos R.; Gonzaga-Jauregui, Claudia
European Journal of Human Genetics: EJHG; January 2020, Vol. 28 Issue: 1 p76-87, 12p
Academic Journal
Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; chun-hui Tsai, Anne; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun
American Journal of Human Genetics. Nov 5, 2020, Vol. 107 Issue 5, 963
Academic Journal
Connaughton, Dervla M.; Dai, Rufeng; Owen, Danielle J.; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L.; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle M.N.; St-Germain, Jonathan R.; Blok, Lot Snijders; Vino, Arianna; Klambt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M.; Majmundar, Amar J.; Buerger, Florian; Onuchic-Whitford, Ana C.; Youying, Mao; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T.; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M.; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C.; Hermle, Tobias; Alders, Marielle; Bartolomaeus, Tobias; Bauer, Stuart B.; Baum, Michelle A.; Brilstra, Eva H.; Challman, Thomas D.; Zyskind, Jacob; Costin, Carrie E.; Dipple, Katrina M.; Duijkers, Floor A.; Ferguson, Marcia; Fitzpatrick, David R.; Fick, Roger; Glass, Ian A.; Hulick, Peter J.; Kline, Antonie D.; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa J.; Wentzensen, Ingrid M.; Mefford, Heather C.; Platzer, Konrad; Povolotskaya, Inna S.; Savatt, Juliann M.; Shcherbakova, Natalia V.; Senguttuvan, Prabha; Squire, Audrey E.; Stein, Deborah R.; Thiffault, Isabelle; Voinova, Victoria Y.; Somers, Michael J.G.; Ferguson, Michael A.; Traum, Avram Z.; Daouk, Ghaleb H.; Daga, Ankana; Rodig, Nancy M.; Terhal, Paulien A.; van Binsbergen, Ellen; Eid, Loai A.; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze Y.; Ahram, Dina F.; Gharavi, Ali G.; Reutter, Heiko M.; Rehm, Heidi L.; MacArthur, Daniel G.; Lek, Monkol; Laricchia, Kristen M.; Lifton, Richard P.; Xu, Hong; Mane, Shrikant M.; Sanna-Cherchi, Simone; Sharrocks, Andrew D.; Raught, Brian; Fisher, Simon E.; Bouchard, Maxime; Khokha, Mustafa K.; Shril, Shirlee; Hildebrandt, Friedhelm
American Journal of Human Genetics. Oct 1, 2020, Vol. 107 Issue 4, 727
Academic Journal
Hiatt, Susan M.; Thompson, Michelle L.; Prokop, Jeremy W.; Lawlor, James M.J.; Gray, David E.; Bebin, E. Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W.; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M.; McWalter, Kirsty; Cooper, Gregory M.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Academic Journal
Pilarowski, Genay O.; Vernon, Hilary J.; Applegate, Carolyn D.; Boukas, Leandros; Cho, Megan T.; Gurnett, Christina A.; Benke, Paul J.; Beaver, Erin; Heeley, Jennifer M.; Medne, Livija; Krantz, Ian D.; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B.; Wentzensen, Ingrid M.; Baskin, Berivan; Sacoto, Maria J. Guillen; Bowman, Gregory D.; Bjornsson, Hans T.
Journal of Medical Genetics; Aug2018, Vol. 55 Issue 8, p561-566, 6p
Academic Journal
Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W.; Brilstra, Eva H.; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernandez-Jaen, Alberto; Ganapathi, Mythily; Chung, Wendy K.; Grange, Dorothy K.; Dave-Wala, Ashita; Reshmi, Shalini C.; Bartholomew, Dennis W.; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Li[sz]ewski, Christina; Brinkmann, Julia; Waclaw, Ronald R.; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M.; Morrow, Michelle M.; Alvarez, Sara; Martinez-Garcia, Monica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D.; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E.; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco
American Journal of Human Genetics. Sept 3, 2020, Vol. 107 Issue 3, 499
Academic Journal
Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa I.; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Guillen Sacoto, Maria J.; Si, Yue; Telegrafi, Aida; Andrews, Marisa V.; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J.M.; Stevens, Servi J.C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E.C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry
American Journal of Human Genetics. August 6, 2020, Vol. 107 Issue 2, 311
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제한된 항목
[AR] Wentzensen, Ingrid M.
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