학술논문
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'학술논문'
에서 검색결과 232건 | 목록
1~20
Academic Journal
van Karnebeek, Clara D. M.; Tarailo-Graovac, Maja; Leen, Rene; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V.; Pena, Izabella A.; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L.; Drogemoller, Britt I.; Grootemaat, Anita E.; van der Wel, Nicole N.; Dobritzsch, Doreen, 1972; Roseboom, Winfried; Schomakers, Bauke V.; Jaspers, Yorrick R. J.; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R.; van der Lee, Robin; Ross, Colin J.; Kochan, Jakub; McIntyre, Rebecca L.; van Klinken, Jan B.; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michel A.; Riva, Daria; Garavaglia, Barbara; Moeschler, John B.; Filiano, James J.; Ekker, Marc; Berman, Jason N.; Dyment, David; Vaz, Frederic M.; Wassermann, Wyeth W.; Houtkooper, Riekelt H.; van Kuilenburg, Andre B. P.
Genetics in Medicine. 26(6)
Academic Journal
Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne; Bruegger, Daniel; Chng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John; Gripp, Karen; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert; Jones, Kenneth; Jones, Marilyn; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan; Sangha, Karan; Scheuerle, Angela; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia; White, Susan; Young, Terri; Loomes, Kathleen; Pipan, Mary; Harrington, Ann; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie; Izumi, Kosuke; Raible, Sarah; Krantz, Ian
The American Journal of Medical Genetics-Part A, vol 191, iss 8
Academic Journal
Herriges, John C. ; Brown, Sara ; Longhurst, Maria ; Ozmore, Jillian ; Moeschler, John B. ; Janze, Aura ; Meck, Jeanne ; South, Sarah T. ; Andersen, Erica F.
In European Journal of Medical Genetics January 2019 62(1):9-14
Academic Journal
van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A. ; Adachi-Fukuda, Miho ; Alanay, Yasemin ; AlKindy, Adila ; Baban, Anwar ; Bayat, Allan ; Beck-Wödl, Stefanie ; Berry, Katherine ; Bijlsma, Emilia K. ; Bok, Levinus A. ; Brouwer, Alwin F.J. ; van der Burgt, Ineke ; Campeau, Philippe M. ; Canham, Natalie ; Chrzanowska, Krystyna ; Chu, Yoyo W.Y. ; Chung, Brain H.Y. ; Dahan, Karin ; De Rademaeker, Marjan ; Destree, Anne ; Dudding-Byth, Tracy ; Earl, Rachel ; Elcioglu, Nursel ; Elias, Ellen R. ; Fagerberg, Christina ; Gardham, Alice ; Gener, Blanca ; Gerkes, Erica H. ; Grasshoff, Ute ; van Haeringen, Arie ; Heitink, Karin R. ; Herkert, Johanna C. ; den Hollander, Nicolette S. ; Horn, Denise ; Hunt, David ; Kant, Sarina G. ; Kato, Mitsuhiro ; Kayserili, Hülya ; Kersseboom, Rogier ; Kilic, Esra ; Krajewska-Walasek, Malgorzata ; Lammers, Kylin ; Laulund, Lone W. ; Lederer, Damien ; Lees, Melissa ; López-González, Vanesa ; Maas, Saskia ; Mancini, Grazia M.S. ; Marcelis, Carlo ; Martinez, Francisco ; Maystadt, Isabelle ; McGuire, Marianne ; McKee, Shane ; Mehta, Sarju ; Metcalfe, Kay ; Milunsky, Jeff ; Mizuno, Seiji ; Moeschler, John B. ; Netzer, Christian ; Ockeloen, Charlotte W. ; Oehl-Jaschkowitz, Barbara ; Okamoto, Nobuhiko ; Olminkhof, Sharon N.M. ; Orellana, Carmen ; Pasquier, Laurent ; Pottinger, Caroline ; Riehmer, Vera ; Robertson, Stephen P. ; Roifman, Maian ; Rooryck, Caroline ; Ropers, Fabienne G. ; Rosello, Monica ; Ruivenkamp, Claudia A.L. ; Sagiroglu, Mahmut S. ; Sallevelt, Suzanne C.E.H. ; Sanchis Calvo, Amparo ; Simsek-Kiper, Pelin O. ; Soares, Gabriela ; Solaeche, Lucia ; Sonmez, Fatma Mujgan ; Splitt, Miranda ; Steenbeek, Duco ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tanabe, Saori ; Uctepe, Eyyup ; Utine, G. Eda ; Veenstra-Knol, Hermine E. ; Venkateswaran, Sunita ; Vilain, Catheline ; Vincent-Delorme, Catherine ; Vulto-van Silfhout, Anneke T. ; Wheeler, Patricia ; Wilson, Golder N. ; Wilson, Louise C. ; Wollnik, Bernd ; Kosho, Tomoki ; Wieczorek, Dagmar ; Eichler, Evan ; Pfundt, Rolph ; de Vries, Bert B.A. ; Clayton-Smith, Jill ; Santen, Gijs W.E.
In Genetics in Medicine June 2019 21(6):1295-1307
Academic Journal
Girirajan Santhosh; Rosenfeld Jill A.; Cooper Gregory M.; Antonacci Francesca; Siswara Priscillia; Itsara Andy; Vives Laura; Walsh Tom; McCarthy Shane E.; Baker Carl; Mefford Heather C.; Kidd Jeffrey M.; Browning Sharon R.; Browning Brian L.; Dickel Diane E.; Levy Deborah L.; Ballif Blake C.; Platky Kathryn; Farber Darren M.; Gowans Gordon C.; Wetherbee Jessica J.; Asamoah Alexander; Weaver David D.; Mark Paul R.; Dickerson Jennifer; Garg Bhuwan P.; Ellingwood Sara A.; Smith Rosemarie; Banks Valerie C.; Smith Wendy; McDonald Marie T.; Hoo Joe J.; French Beatrice N.; Hudson Cindy; Johnson John P.; Ozmore Jillian R.; Moeschler John B.; Surti Urvashi; Escobar Luis F.; El Khechen Dima; Gorski Jerome L.; Kussmann Jennifer; Salbert Bonnie; Lacassie Yves; Biser Alisha; McDonald McGinn Donna M.; Zackai Elaine H.; Deardorff Matthew A.; Shaikh Tamim H.; Haan Eric; Friend Kathryn L.; FICHERA, Marco; Romano Corrado; Gecz Jozef; DeLisi Lynn E.; Sebat Jonathan; King Mary Claire; Shaffer Lisa G.; Eichler Evan E.
Nat Genet
Nature Genetics, vol 42, iss 3
Nature Genetics, vol 42, iss 3
Academic Journal
van Karnebeek, Clara D.M. ; Shevell, Michael ; Zschocke, Johannes ; Moeschler, John B. ; Stockler, Sylvia
In Molecular Genetics and Metabolism April 2014 111(4):428-438
Academic Journal
van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; de Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, H. lya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
van der Sluijs, P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, de Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H L, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler , J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Calvo, A S, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, 'Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)', Genetics in Medicine, vol. 21, no. 9, pp. 2160-2161. https://doi.org/10.1038/s41436-018-0368-y
Academic Journal
Shi, Xun; Miller, Stephanie; Mwenda, Kevin; Onda, Akikazu; Rees, Judy; Onega, Tracy; Gui, Jiang; Karagas, Margaret; Demidenko, Eugene; Moeschler, John
Int J Environ Res Public Health
International Journal of Environmental Research and Public Health
Volume 10
Issue 9
Pages 4161-4174
International Journal of Environmental Research and Public Health
Volume 10
Issue 9
Pages 4161-4174
Academic Journal
Lamb, Allen N; Rosenfeld, Jill A; Neill, Nicholas J; Talkowski, Michael E; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I; Rosenbaum, Kenneth; Vallee, Stephanie E; Moeschler, John B; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron-Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M; Opheim, Kent E; Descartes, Maria; Eichler, Evan E; Morton, Cynthia C; Gusella, James F; Schultz, Roger A; Ballif, Blake C; Shaffer, Lisa G
Lamb, A N, Rosenfeld, J A, Neill, N J, Talkowski, M E, Blumenthal, I, Girirajan, S, Keelean-Fuller, D, Fan, Z, Pouncey, J, Stevens, C, Mackay-Loder, L, Terespolsky, D, Bader, P I, Rosenbaum, K, Vallee, S E, Moeschler , J B, Ladda, R, Sell, S, Martin, J, Ryan, S, Jones, M C, Moran, R, Shealy, A, Madan-Khetarpal, S, McConnell, J, Surti, U, Delahaye, A, Heron-Longe, B, Pipiras, E, Benzacken, B, Passemard, S, Verloes, A, Isidor, B, Le Caignec, C, Glew, G M, Opheim, K E, Descartes, M, Eichler, E E, Morton, C C, Gusella, J F, Schultz, R A, Ballif, B C & Shaffer, L G 2012, 'Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.', Human Mutation, vol. 33, no. 4. https://doi.org/10.1002/humu.22037
Academic Journal
Pediatrics. 124:S443-S449
Academic Journal
In The Journal of Pediatrics 2011 159(4):535-540
Academic Journal
Clark, Robin Dawn ; Graham, John M., Jr ; Friez, Michael J. ; Hoo, Joe J. ; Jones, Kenneth Lyons ; McKeown, Carole ; Moeschler, John B. ; Raymond, F. Lucy ; Rogers, R. Curtis ; Schwartz, Charles E. ; Battaglia, Agatino ; Lyons, Michael J. ; Stevenson, Roger E.
In Genetics in Medicine November 2009 11(11):769-775
Academic Journal
Shi, Xun; Ayotte, Joseph D.; Onda, Akikazu; Miller, Stephanie; Rees, Judy; Gilbert-Diamond, Diane; Onega, Tracy; Gui, Jiang; Karagas, Margaret; Moeschler, John
Environmental Geochemistry and Health: Official Journal of the Society for Environmental Geochemistry and Health. April 2015 37(2):333-351
Academic Journal
Korbel, Jan O.; Tirosh-Wagner, Tal; Urban, Alexander Eckehart; Chen, Xiao-Ning; Kasowski, Maya; Dal, Li; Grubert, Fabian; Erdman, Chandra; Gao, Michael C.; Lange, Ken; Sobel, Eric M.; Barlow, Gillian M.; Aylsworth, Arthur S.; Carpenter, Nancy J.; Clark, Robin Dawn; Cohen, Monika Y.; Doran, Eric; Falik-Zaccai, Tzipora; Lewin, Susan O.; Lott, Ira T.; McGillivray, Barbara C.; Moeschler, John B.; Pettenati, Mark J.; Pueschel, Slegfried M.; Raol, Kathleen W.; Shaffer, Lisa G.; Shohat, Mordechai; van Riper, Alexander J.; Warburton, Dorothy; Weissman, Sherman; Gerstein, Mark B.; Snyder, Michael; Korenberg, Julie R.; Ecker, Joseph R.
Proceedings of the National Academy of Sciences of the United States of America, 2009 Jul . 106(29), 12031-12036.
Academic Journal
Johnston, Jennifer J. ; Olivos-Glander, Isabelle; Killoran, Christina; Elson, Emma; Turner, Joyce T.; Peters, Kathryn F.; Abbott, Margaret H.; Aughton, David J.; Aylsworth, Arthur S.; Bamshad, Michael J.; Booth, Carol; Curry, Cynthia J.; David, Albert; Dinulos, Mary Beth; Flannery, David B.; Fox, Michelle A.; Graham, John M., Jr.; Grange, Dorothy K.; Guttmacher, Alan E.; Hannibal, Mark C.; Henn, Wolfram; Hennekam, RaoulC.M.; Holmes, Lewis B.; Hoyme, H. Eugene; Leppig, Kathleen A.; Lin, Angela E.; MacLeod, Patrick; Manchester, David K.; Marcelis, Carlo; Mazzanti, Laura; McCann, Emma; McDonald, Marie T.; Mendelsohn, Nancy J.; Moeschler, John B.; Moghaddam, Billur; Neri, Giovanni; Newbury-Ecob, Ruth; Pagon, Roberta A.; Phillips III, John A.; Sadler, Laurie S.; Stoler, Joan M.; Tilstra, David; Walsh Vockley, Catherine M.; Zackai, Elaine H.; Zadeh, Touran M.; Brueton, Louise; Black, Graeme Charles M.; Biesecker, Leslie G.
In The American Journal of Human Genetics 2005 76(4):609-622
Academic Journal
Rosenfeld, Jill A.; Amrom, Dina; Andermann, Eva; Andermann, Frederick; Veilleux, Martin; Curry, Cynthia; Fisher, Jamie; Deputy, Stephen; Aylsworth, Arthur S.; Powell, Cynthia M.; Manickam, Kandamurugu; Heese, Bryce; Maisenbacher, Melissa; Stevens, Cathy; Ellison, Jay W.; Upton, Sheila; Moeschler, John; Torres-Martinez, Wilfredo; Stevens, Abby; Marion, Robert; Pereira, Elaine Maria; Babcock, Melanie; Morrow, Bernice; Sahoo, Trilochan; Lamb, Allen N.; Ballif, Blake C.; Paciorkowski, Alex R.; Shaffer, Lisa G.
neurogenetics. February 2012 13(1):31-47
Academic Journal
Yao, Guimei ; Chen, Xiao-Ning ; Flores-Sarnat, Laura ; Barlow, Gillian M. ; Palka, Giandomenico ; Moeschler, John B. ; McGillivray, Barbara ; Morse, Richard P. ; Korenberg, Julie R.
In Genetics in Medicine January 2006 8(1):1-7
3 - Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism
Book
In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics Edition: Seventh Edition. 2019:61-79
Academic Journal
Cunniff, Christopher; Byrne, Janice L.B.; Hudgins, Louanne M.; Moeschler, John B.; Olney, Ann Haskins; Pauli, Richard M.; Seaver, Lauri H.; Stevens, Cathy A.; Figone, Christopher
In Genetics in Medicine November-December 2000 2(6):353-355
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