학술논문
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'학술논문'
에서 검색결과 142건 | 목록
1~20
Academic Journal
American Journal of Medical Genetics Part A.
Academic Journal
Bone Reports, Vol 19, Iss , Pp 101699- (2023)
Academic Journal
P. Christian Remmelzwaal; Martijn V. Verhagen; Jan D. H. Jongbloed; Peter C. van den Akker; Hermine E. Veenstra‐Knol; Marrit M. Hitzert
American Journal of Medical Genetics Part A. 191:2440-2445
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Jung-Hyun Kim; Zahide Alaçam; Laurence Faivre; Kathleen M. Collins; Erica H. Gerkes; Mieke van Haelst; Ingrid M. B. H. van de Laar; Kristin Lindstrom; Mathilde Nizon; James Pauling; Edyta Heropolitańska-Pliszka; Astrid S. Plomp; Caroline Racine; Rani Sachdev; Margje Sinnema; Jon Skranes; Hermine E. Veenstra-Knol; Eline A. Verberne; Anneke T. Vulto-van Silfhout; Marlon E. F. Wilsterman; Eun-Young Erin Ahn; Bert B. A. de Vries; Lisenka E. L. M. Vissers
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E , Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra -Knol , H E , Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E -Y E , de Vries, B B A & Vissers, L E L M 2021, 'Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics. https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics
Academic Journal
Goodman, Lindsey D. ; Cope, Heidi ; Nil, Zelha ; Ravenscroft, Thomas A. ; Charng, Wu-Lin ; Lu, Shenzhao ; Tien, An-Chi ; Pfundt, Rolph ; Koolen, David A. ; Haaxma, Charlotte A. ; Veenstra-Knol, Hermine E. ; Wassink-Ruiter, Jolien S. Klein ; Wevers, Marijke R. ; Jones, Melissa ; Walsh, Laurence E. ; Klee, Victoria H. ; Theunis, Miel ; Legius, Eric ; Steel, Dora ; Barwick, Katy E.S. ; Kurian, Manju A. ; Mohammad, Shekeeb S. ; Dale, Russell C. ; Terhal, Paulien A. ; van Binsbergen, Ellen ; Kirmse, Brian ; Robinette, Bethany ; Cogné, Benjamin ; Isidor, Bertrand ; Grebe, Theresa A. ; Kulch, Peggy ; Hainline, Bryan E. ; Sapp, Katherine ; Morava, Eva ; Klee, Eric W. ; Macke, Erica L. ; Trapane, Pamela ; Spencer, Christopher ; Si, Yue ; Begtrup, Amber ; Moulton, Matthew J. ; Dutta, Debdeep ; Kanca, Oguz ; Wangler, Michael F. ; Yamamoto, Shinya ; Bellen, Hugo J. ; Tan, Queenie K.-G.
In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691
Academic Journal
Vincent Strehlow; Henrike O Heyne; Danique R M Vlaskamp; Katie F M Marwick; Gabrielle Rudolf; Julitta de Bellescize; Saskia Biskup; Eva H Brilstra; Oebele F Brouwer; Petra M C Callenbach; Julia Hentschel; Edouard Hirsch; Peter C Kind; Cyril Mignot; Konrad Platzer; Patrick Rump; Paul A Skehel; David J A Wyllie; Giles E Hardingham; Conny M A van Ravenswaaij-Arts; Gaetan Lesca; Johannes R Lemke; Alexis Arzimanoglou; Paul B Augustijn; Patrick Van Bogaert; Helene Bourry; Peter Burfeind; Yoyo Chu; Brian Chung; Diane Doummar; Patrick Edery; Aviva Fattal-Valevski; Mélanie Fradin; Marion Gerard; Christa de Geus; Boudewijn Gunning; Danielle Hasaerts; Ingo Helbig; Katherine L Helbig; Rami Jamra; Mélanie Jennesson Lyver; Jolien S Klein Wassink-Ruiter; David A Koolen; Damien Lederer; Roelineke J Lunsing; Mikaël Mathot; Hélène Maurey; Shay Menascu; Anne Michel; Ghayda Mirzaa; Diana Mitter; Hiltrud Muhle; Rikke S Møller; Caroline Nava; Margaret O’Brien; Evelyn van Pinxteren-Nagler; Anne van Riesen; Christelle Rougeot; Damien Sanlaville; Jolanda H Schieving; Steffen Syrbe; Hermine E Veenstra-Knol; Nienke Verbeek; Dorothée Ville; Yvonne J Vos; Pascal Vrielynck; Sabrina Wagner; Sarah Weckhuysen; Marjolein H Willemsen
Brain
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra,E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E , Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E , van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra,E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E , Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E , van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra,
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra,
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Academic Journal
Stolz, Jacob R. ; Foote, Kendall M. ; Veenstra-Knol, Hermine E. ; Pfundt, Rolph ; ten Broeke, Sanne W. ; de Leeuw, Nicole ; Roht, Laura ; Pajusalu, Sander ; Part, Reelika ; Rebane, Ionella ; Õunap, Katrin ; Stark, Zornitza ; Kirk, Edwin P. ; Lawson, John A. ; Lunke, Sebastian ; Christodoulou, John ; Louie, Raymond J. ; Rogers, R. Curtis ; Davis, Jessica M. ; Innes, A. Micheil ; Wei, Xing-Chang ; Keren, Boris ; Mignot, Cyril ; Lebel, Robert Roger ; Sperber, Steven M. ; Sakonju, Ai ; Dosa, Nienke ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Ruivenkamp, Claudia A.L. ; van Bon, Bregje W. ; Kennedy, Joanna ; Low, Karen J. ; Ellard, Sian ; Pang, Lewis ; Junewick, Joseph J. ; Mark, Paul R. ; Carvill, Gemma L. ; Swanson, Geoffrey T.
In The American Journal of Human Genetics 2 September 2021 108(9):1692-1709
Academic Journal
Rachel Rabin; Alireza Radmanesh; Ian A. Glass; William B. Dobyns; Kimberly A. Aldinger; Joseph T. Shieh; Shelby Romoser; Hannah Bombei; Leah Dowsett; Pamela Trapane; John A. Bernat; Janice Baker; Nancy J. Mendelsohn; Bernt Popp; Manuela Siekmeyer; Ina Sorge; Francis Hugh Sansbury; Patrick Watts; Nicola C. Foulds; Jennifer Burton; George Hoganson; Jane A. Hurst; Lara Menzies; Deborah Osio; Larissa Kerecuk; Jan M. Cobben; Khadijé Jizi; Sebastien Jacquemont; Stacey A. Bélanger; Katharina Löhner; Hermine E. Veenstra‐Knol; Henny H. Lemmink; Jennifer Keller‐Ramey; Ingrid M. Wentzensen; Sumit Punj; Kirsty McWalter; Jerica Lenberg; Katarzyna A. Ellsworth; Kelly Radtke; Schahram Akbarian; John Pappas
American Journal of Medical Genetics Part A. 182:2037-2048
Academic Journal
Iris G. M. Wijnen; Hermine E. Veenstra-Knol; Fleur Vansenne; Erica H. Gerkes; Tom de Koning; Yvonne J. Vos; Marina A. J. Tijssen; Deborah Sival; Niklas Darin; Els K. Vanhoutte; Mayke Oosterloo; Maartje Pennings; Bart P. van de Warrenburg; Erik-Jan Kamsteeg
European Journal of Human Genetics, 28, 6, pp. 763-769
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
Nuria C. Bramswig; Hermann-Josef Lüdecke; Fadi F. Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; Daniel H. Lowenstein; Jacques L. Michaud; Kristen Park; Alexander P.A. Stegmann; Hermine E. Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M. Strom; Tjitske Kleefstra; Dagmar Wieczorek
Human Genetics, 136, 7, pp. 821-834
Hum. Genet. 136, 821-834 (2017)
Human Genetics
Hum. Genet. 136, 821-834 (2017)
Human Genetics
Academic Journal
Cameron-Christie, Sophia R.; Wells, Constance F.; Simon, Marleen; Wessels, Marja; Tang, Candy Z. N.; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O.; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E.; Cassina, Matteo; Ludkig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M.; Jenkins, Zandra A.; Robertson, Stephen P.
The American Journal of Human Genetics. 102:1115-1125
Academic Journal
Emma M. Wade; Zandra A. Jenkins; Philip B. Daniel; Tim Morgan; Marie C. Addor; Lesley C. Adés; Debora Bertola; Axel Bohring; Erin Carter; Tae‐Joon Cho; Christa M. de Geus; Hans‐Christoph Duba; Elaine Fletcher; Kinga Hadzsiev; Raoul C. M. Hennekam; Chong A. Kim; Deborah Krakow; Eva Morava; Teresa Neuhann; David Sillence; Andrea Superti‐Furga; Hermine E. Veenstra‐Knol; Dagmar Wieczorek; Louise C. Wilson; David M. Markie; Stephen P. Robertson
American Journal of Medical Genetics Part A. 173:1739-1746
Academic Journal
Anneke de Boer; Karlijn Vermeulen; Jos I. M. Egger; Joost G. E. Janzing; Nicole de Leeuw; Hermine E. Veenstra-Knol; Nicolette S. den Hollander; Hans van Bokhoven; Wouter Staal; Tjitske Kleefstra
Molecular Autism, Vol 9, Iss 1, Pp 1-7 (2018)
Academic Journal
Reijnders, Margot RF; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny MA; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske
American Journal of Human Genetics, 98, 2, pp. 373-81
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
Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H.; Veenstra-Knol, Hermine E.; Herkert, Johanna C.; Lund, Allan M.; Hennekam, Raoul C. M.; Megarbane, Andre; Lees, Melissa M.; Wilson, Louise C.; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C.; Bongers, Ernie M. H. F.; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W.; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M.; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D.; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M.; Tobias, Edward S.; Toutain, Annick; Vreeburg, Maaike; Wakeling, Emma; Knoers, Nine V.; Coucke, Paul; Mortier, Geert R.
American Journal of Medical Genetics. Part A. 167A(3):461-475
Academic Journal
Katrina Tatton-Brown; Anna Zachariou; Chey Loveday; Anthony Renwick; Shazia Mahamdallie; Lise Aksglaede; Diana Baralle; Daniela Barge-Schaapveld; Moira Blyth; Mieke Bouma; Jeroen Breckpot; Beau Crabb; Tabib Dabir; Valerie Cormier-Daire; Christine Fauth; Richard Fisher; Blanca Gener; David Goudie; Tessa Homfray; Matthew Hunter; Agnete Jorgensen; Sarina G. Kant; Cathy Kirally-Borri; David Koolen; Ajith Kumar; Anatalia Labilloy; Melissa Lees; Carlo Marcelis; Catherine Mercer; Cyril Mignot; Kathryn Miller; Katherine Neas; Ruth Newbury-Ecob; Daniela T. Pilz; Renata Posmyk; Carlos Prada; Keri Ramsey; Linda M. Randolph; Angelo Selicorni; Deborah Shears; Mohnish Suri; I. Karen Temple; Peter Turnpenny; Lionel Val Maldergem; Vinod Varghese; Hermine E. Veenstra-Knol; Naomi Yachelevich; Laura Yates; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Nazneen Rahman
Wellcome Open Research, Vol 3 (2018)
Academic Journal
Seggers, Jorien ; Haadsma, Maaike L. ; Bos, Arend F. ; Heineman, Maas Jan ; Keating, Paul ; Middelburg, Karin J. ; van Hoften, Jacorina C. ; Veenstra-Knol, Hermine E. ; Kok, Joke H. ; Cobben, Jan Maarten ; Hadders-Algra, Mijna
In Early Human Development October 2012 88(10):823-829
Academic Journal
Witteveen, Josefine S.; Willemsen, Marjolein H.; Dombroski, Thais C.D.; van Bakel, Nick H.M.; Nillesen, Willy M.; van Hulten, Josephus A.; Jansen, Eric J.R.; Verkaik, Dave; Veenstra-Knol, Hermine E.; van Ravenswaaij-Arts, Conny M.A.; Wassink-Ruiter, Jolien S. Klein; Vincent, Marie; David, Albert; Le Caignec, Cedric; Schieving, Jolanda; Gilissen, Christian; Foulds, Nicola; Rump, Patrick; Strom, Tim; Cremer, Kirsten; Zink, Alexander M.; Engels, Hartmut; de Munnik, Sonja A.; Visser, Jasper E.; Brunner, Han G.; Martens, Gerard J.M.; Pfundt, Rolph; Kleefstra, Tjitske; Kolk, Sharon M.
Nature Genetics. August 1, 2016, p877, 13 p.
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[검색어] Veenstra-Knol, Hermine E
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