المؤلفون: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J M, Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A, Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M A van, Kroes, Hester Y, Stumpel, Constance T R M, Ockeloen, Charlotte W, Diets, Illja J, Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H, McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E, Vera, Moin, Shen, Joseph J, Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N, Giltay, Jacques C, Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B A de, Motter, Constance S, Mendelsohn, Bryce A, Coffino, Samantha, Gerkes, Erica H, Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J, Rutten, Julie W, Caluseriu, Oana, Vernon, Hilary J, Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M E, Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G P, Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G, Vissers, Lisenka E L M, Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

المصدر: Rots , D , Choufani , S , Faundes , V , Dingemans , A J M , Joss , S , Foulds , N , Jones , E A , Stewart , S , Vasudevan , P , Dabir , T , Park , S-M , Jewell , R , Brown , N , Pais , L , Jacquemont , S , Jizi , K , Ravenswaaij-Arts , C M A V , Kroes , H Y , Stumpel , C T R M , Ockeloen , C W , Diets , I J , Nizon , M ....

الاتاحة: https://hdl.handle.net/11370/de531cb4-d1c8-41ce-ba05-8da2a9f2d12f
https://research.rug.nl/en/publications/de531cb4-d1c8-41ce-ba05-8da2a9f2d12f
https://doi.org/10.1016/j.ajhg.2024.06.009
http://Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

المؤلفون: van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E. L. M., Dingemans, Alexander J. M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J. G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M. A. M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المصدر: van der Laan , L , Karimi , K , Rooney , K , Lauffer , P , McConkey , H , Caro , P , Relator , R , Levy , M A , Bhai , P , Mignot , C , Keren , B , Briuglia , S , Sobering , A K , Li , D , Vissers , L E L M , Dingemans , A J M , Valenzuela , I , Verberne , E A , Misra-Isrie , M , Zwijnenburg , P J G , Waisfisz , Q , Alders , M ....

الاتاحة: https://research.vumc.nl/en/publications/fdc56e8e-abed-44f0-a0f8-eacb5c3c990c
https://doi.org/10.1016/j.gim.2023.101050
http://www.scopus.com/inward/record.url?scp=85183550775&partnerID=8YFLogxK

المؤلفون: Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat i Llop, Susanna, 1965-, Ibáñez-Micó, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez Jurado, Luis Alberto, Aznar Laín, Gemma, Ortigoza Escobar, Juan Darío, de Vries, Bert B. A., Koolen, David A., Weksberg, Rosanna

مصطلحات موضوعية: Diagnostic markers, DNA methylation

وصف الملف: application/pdf

Relation: Eur J Hum Genet. 2024 Mar;32(3):324-32; http://hdl.handle.net/10230/59779

الاتاحة: http://hdl.handle.net/10230/59779
https://doi.org/10.1038/s41431-024-01538-6

المؤلفون: Gargano, Michael A., Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B., Anagnostopoulos, Anna V., Anderton, Joel, Avillach, Paul, Bagley, Anita M., Bakštein, Eduard, Balhoff, James P., Baynam, Gareth, Bello, Susan M., Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F., Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J., Cameron, Rhiannon, Carbon, Seth J., Castellanos, Francisco, Caufield, J. Harry, Chan, Lauren E., Chute, Christopher G., Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R., de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B. A., de Vries, Esther, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J. M., Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V., Freudenberg-Hua, Yun, Fullerton, Janice M., Gabriel, Davera L., Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S., Gore Moses, Rachel, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun Oliver, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O. B., Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A., Kraus, Megan L., Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S., Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L., Martinez-Glez, Victor, McHenry, Toby H., McInnis, Melvin G., McMurry, Julie A., Mihulová, Michaela, Millett, Caitlin E., Mitchell, Philip B., Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A., Novák Čajbiková, Nikola, Nurnberger, John I., Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A., Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المساهمون: Psychiatry, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Algorithms, Biological ontologies, Genomics, Phenotype, Rare diseases

وصف الملف: application/pdf

Relation: Nucleic Acids Research; Gargano MA, Matentzoglu N, Coleman B, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52(D1):D1333-D1346. doi:10.1093/nar/gkad1005; https://hdl.handle.net/1805/40981

الاتاحة: https://hdl.handle.net/1805/40981

المؤلفون: Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., Weksberg, Rosanna

المصدر: European Journal of Human Genetics ; volume 32, issue 3, page 366-366 ; ISSN 1018-4813 1476-5438

الاتاحة: https://doi.org/10.1038/s41431-024-01561-7
https://www.nature.com/articles/s41431-024-01561-7.pdf
https://www.nature.com/articles/s41431-024-01561-7

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B A, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J M, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun (Oliver), Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O B, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A, Čajbiková, Nikola Novák, Nurnberger, John I, Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smedley, Damian, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vasilevsky, Nicole A, Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S, Wiafe, Addo A, Wiafe, Samuel A, Wiggins, Lisa D, Williams, Andrew E, Wu, Chen, Wyrwoll, Margot J, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Yocum, Anastasia K, Young, Allan H, Yüksel, Zafer, Zandi, Peter P, Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Danis, Daniel, Mungall, Christopher J, Köhler, Sebastian, Haendel, Melissa A, Robinson, Peter N

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/378797

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/378797

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W, Kampen, Rosalie A, Hampstead, Juliet E, Dingemans, Alexander J M, 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 M, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A, 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 J, Stegmann, Alexander P A, Swagemakers, Sigrid M A, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M, Wéber, Mathys, Gilissen, Christian, Low, Karen J, Fisher, Simon E, Vissers, Lisenka E L M, Wong, Maggie M K, Kleefstra, Tjitske

المصدر: 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 ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/a6b6fb35-3a62-45e5-8dcb-13d03a86fcf8

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/a6b6fb35-3a62-45e5-8dcb-13d03a86fcf8
https://doi.org/10.1016/j.gim.2023.100962

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B A, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J M, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly

المساهمون: NIH, French Ministry of Health, NHGRI, NCATS, Horizon 2020, Defense Advanced Research Projects Agency, DARPA Automating Scientific Knowledge Extraction and Modeling program, Berlin Institute of Health, Wellcome Trust, Angela Wright Bennett Foundation, McCusker Charitable Foundation, Channel 7 Telethon Trusts, the Stan Perron Charitable Foundation and Mineral Resources, German Research Foundation, NLM, Canadian Institutes of Health Research Sex and Gender Science Chair, U.S. Department of Energy, NIMH, NICHD, NIDCR, Prechter Bipolar Research Program

المصدر: Nucleic Acids Research ; volume 52, issue D1, page D1333-D1346 ; ISSN 0305-1048 1362-4962

الاتاحة: https://doi.org/10.1093/nar/gkad1005
https://academic.oup.com/nar/article-pdf/52/D1/D1333/55039688/gkad1005.pdf

المؤلفون: Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J M, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W, Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W E, Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M, Bijlsma, Emilia K, Hakonen, Anna H, Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L, Welling, Lindsey, Plomp, Astrid S, Vanhoutte, Els K, Kalsner, Louisa, Hol, Janna A, Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M L, van Gassen, Koen L I, Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L, Muir, Alison M, Sadikovic, Bekim, Brunner, Han G, Vissers, Lisenka E L M, Shinkai, Yoichi, Kleefstra, Tjitske

المساهمون: Rots, Dmitrij, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J M, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W, Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Han, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, Mcconkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W E, Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M, Bijlsma, Emilia K, Hakonen, Anna H, Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L, Welling, Lindsey, Plomp, Astrid S, Vanhoutte, Els K, Kalsner, Louisa, Hol, Janna A, Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chri, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M L, van Gassen, Koen L I, Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L, Muir, Alison M, Sadikovic, Bekim, Brunner, Han G, Vissers, Lisenka E L M, Shinkai, Yoichi, Kleefstra, Tjitske

مصطلحات موضوعية: DNA methylation, EHMT1, H3K9, Kleefstra syndrome, NDD, neurodevelopmental disorders

Relation: journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11588/965964

الاتاحة: https://hdl.handle.net/11588/965964
https://doi.org/10.1016/j.ajhg.2024.06.008

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W, Kampen, Rosalie A, Hampstead, Juliet E, Dingemans, Alexander J M, 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 M, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A, 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 J, Stegmann, Alexander P A, Swagemakers, Sigrid M A, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M, Wéber, Mathys, Gilissen, Christian, Low, Karen J, Fisher, Simon E, Vissers, Lisenka E L M, Wong, Maggie M K, Kleefstra, Tjitske

المصدر: 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 ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/df354f9f-55e4-46e6-8c75-940a36f43743
https://doi.org/10.1016/j.gim.2022.06.007

المؤلفون: Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., de Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

المصدر: Dingemans , A J M , Truijen , K M G , van de Ven , S , Bernier , R , Bongers , E M H F , Bouman , A , de Graaff – Herder , L , Eichler , E E , Gerkes , E H , de Geus , C M , van Hagen , J M , Jansen , P R , Kerkhof , J , Kievit , A J A , Kleefstra , T , Maas , S M , de Man , S A , McConkey , H , Patterson , W ....

Relation: https://research.vumc.nl/en/publications/22a848df-4c29-4603-8ce3-fac2536381a8

الاتاحة: https://research.vumc.nl/en/publications/22a848df-4c29-4603-8ce3-fac2536381a8
https://doi.org/10.1038/s41398-022-02189-1
http://www.scopus.com/inward/record.url?scp=85139089412&partnerID=8YFLogxK

المؤلفون: Dingemans, Alexander J. M., Truijen, Kim M. G., Kim, Jung-Hyun, Alacam, Zahide, Faivre, Laurence, Collins, Kathleen M., Gerkes, Erica H., van Haelst, Mieke, van de Laar, Ingrid M. B. H., Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitanska-Pliszka, Edyta, Plomp, Astrid S., Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E., Verberne, Eline A., Vulto-van Silfhout, Anneke T., Wilsterman, Marlon E. F., Ahn, Eun-Young Erin, de Vries, Bert B. A., Vissers, Lisenka E. L. M.

المصدر: Dingemans , A J M , Truijen , K M G , Kim , J-H , Alacam , 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 , Heropolitanska-Pliszka , E , Plomp , A S , Racine , C , Sachdev , R , Sinnema , M , Skranes , J , Veenstra-Knol , H E , Verberne , E A , Vulto-van Silfhout , A ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://pure.eur.nl/en/publications/039870f1-f627-4e9d-b8ed-ad608b52728b
https://doi.org/10.1038/s41431-021-00960-4
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:000695759400001&DestLinkType=FullRecord&DestApp=WOS
http://www.scopus.com/inward/record.url?scp=85115199905&partnerID=8YFLogxK

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert B A, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J M, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun (Oliver), Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O B, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian, Nierenberg, Andrew A, Čajbiková, Nikola Novák, Nurnberger, John I, Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smedley, Damian, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vasilevsky, Nicole A, Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S, Wiafe, Addo A, Wiafe, Samuel A, Wiggins, Lisa D, Williams, Andrew E, Wu, Chen, Wyrwoll, Margot J, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Yocum, Anastasia K, Young, Allan H, Yüksel, Zafer, Zandi, Peter P, Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Danis, Daniel, Mungall, Christopher J, Köhler, Sebastian, Haendel, Melissa A, Robinson, Peter N

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/365641

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/365641

المؤلفون: Dingemans, Alexander J. M., Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke, van Bon, Bregje W., Marcelis, Carlo, Ockeloen, Charlotte W., Willemsen, Marjolein, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

المصدر: Nature Medicine ; ISSN 1078-8956 1546-170X

الاتاحة: http://dx.doi.org/10.1038/s41591-024-03005-7
https://www.nature.com/articles/s41591-024-03005-7.pdf
https://www.nature.com/articles/s41591-024-03005-7

المؤلفون: Dingemans, Alexander J M, Hinne, Max, Truijen, Kim M G, Goltstein, Lia, Rauch, Anita

المصدر: Dingemans, Alexander J M; Hinne, Max; Truijen, Kim M G; Goltstein, Lia; et al; Rauch, Anita (2022). PhenoScore: AI-based phenomics to quantify rare disease and genetic variation. medRxiv 22281480, Cold Spring Harbor Laboratory.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, artificial intelligence, VUS, machine learning, personalized medicine, facial recognition, deep phenotyping

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/222305/1/2022.10.24.22281480v1.full.pdf; urn:issn:0959-535X

الاتاحة: https://www.zora.uzh.ch/id/eprint/222305/
https://www.zora.uzh.ch/id/eprint/222305/1/2022.10.24.22281480v1.full.pdf
https://doi.org/10.5167/uzh-222305
https://doi.org/10.1101/2022.10.24.22281480

المؤلفون: van der Sluijs, P. J., Alders, M., Dingemans, A. J. M., Parbhoo, K., van Bon, B. W., Dempsey, J. C., Doherty, D., den Dunnen, J. T., Gerkes, E. H., Milller, I. M., Moortgat, S., Regier, D. S., Ruivenkamp, C. A. L., Schmalz, B., Smol, Thomas, Stuurman, K. E., Vincent, Catherine, de Vries, B. B. A., Sadikovic, B., Hickey, S. E., Rosenfeld, J. A., Maystadt, I., Santen, G. W. E.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: Genes (Basel) ; https://hal.univ-lille.fr/hal-04717861 ; Genes (Basel), 2021, Genes (Basel), 12 (8), pp.1275. ⟨10.3390/genes12081275⟩

مصطلحات موضوعية: ARID1B, Coffin-Siris syndrome, ACMG guidelines, inherited, familial, variable expression, non-pathogenic, intellectual disability, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/34440449; PUBMED: 34440449

الاتاحة: https://hal.univ-lille.fr/hal-04717861
https://hal.univ-lille.fr/hal-04717861v1/document
https://hal.univ-lille.fr/hal-04717861v1/file/genes-12-01275-v2.pdf
https://doi.org/10.3390/genes12081275

المؤلفون: Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.

المصدر: Dingemans , A J M , Stremmelaar , D E , Vissers , L E L M , Jansen , S , Nabais Sá , M J , van Remortele , A , Jonis , N , Truijen , K , van de Ven , S , Ewals , J , Verbruggen , M , Koolen , D A , Brunner , H G , Eichler , E E , Gecz , J & de Vries , B B A 2021 , ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ' ....

الاتاحة: https://research.vumc.nl/en/publications/f8c414c6-6f5a-48b0-8e0f-c9d96762c300
https://doi.org/10.1002/ajmg.a.62057
http://www.scopus.com/inward/record.url?scp=85099365598&partnerID=8YFLogxK

المؤلفون: Balasubramanian, Meena, Dingemans, Alexander, J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo, M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis, H, Burke, Katherine, B, Fry, Andrew, E, Ragge, Nicola, Sharif, Saba, Foster, Alison, de Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice, S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy, K, Haeringen, Arie, Van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan, M, Palafoll, Maria, Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

المساهمون: Sheffield Children's NHS Foundation Trust, University of Sheffield Sheffield, Radboud University Medical Center Nijmegen (RadboudUMC), Newcastle Upon Tyne Hospitals NHS Foundation Trust, Birmingham Children’s Hospital, Manchester University NHS Foundation Trust (MFT), University of Manchester Manchester, Addenbrooke's Hospital, Cambridge University NHS Trust, University Hospital of Wales (UHW), Oxford Brookes University, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules Hôpital de la Timone - APHM (CRB TAC), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), St. George’s Hospital University, Oxford University Hospitals NHS Foundation Trust, Partenaires INRAE, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Erasmus University Medical Center Rotterdam (Erasmus MC), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Columbia University New York, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Reutlingen University, Centre Hospitalier Universitaire de Liège (CHU-Liège), Murdoch Children's Research Institute (MCRI), University of Melbourne, Vall d'Hebron University Hospital Barcelona, University Hospitals Bristol (UHBW)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: Autism spectrum disorders, Genetic testing, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

الاتاحة: https://hal.sorbonne-universite.fr/hal-03113281
https://hal.sorbonne-universite.fr/hal-03113281v1/document
https://hal.sorbonne-universite.fr/hal-03113281v1/file/s41431-020-00769-7.pdf
https://doi.org/10.1038/s41431-020-00769-7

المؤلفون: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J. M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B. A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T. R. M., Stevens, Servi J. C., Vermeulen, Jeroen R., van Harssel, Jeske V. T., Bosch, Danielle G. M., van Gassen, Koen L., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Ounap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, Maria, Pacio-Miguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tonne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Malgorzata J. M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E. L. M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

المصدر: Rots , D , Chater-Diehl , E , Dingemans , A J M , Goodman , S J , Siu , M T , Cytrynbaum , C , Choufani , S , Hoang , N , Walker , S , Awamleh , Z , Charkow , J , Meyn , S , Pfundt , R , Rinne , T , Gardeitchik , T , de Vries , B B A , Deden , A C , Leenders , E , Kwint , M , Stumpel , C T R M , Stevens , S J C , Vermeulen , ....

مصطلحات موضوعية: AT-HOOK, SOTOS-LIKE, EXON 34, MUTATIONS, GENE, PHENOTYPE, DIAGNOSIS, SPECTRUM, PROTEIN, EPISIGNATURES

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/99084a89-ebc9-4e84-8e41-c146b945e160
https://doi.org/10.1016/j.ajhg.2021.04.008

المؤلفون: Dingemans, Alexander J M, Stremmelaar, Diante E, van der Donk, Roos, Vissers, Lisenka E L M, Koolen, David A, Rump, Patrick, Hehir-Kwa, Jayne Y, de Vries, Bert B A

المصدر: Dingemans , A J M , Stremmelaar , D E , van der Donk , R , Vissers , L E L M , Koolen , D A , Rump , P , Hehir-Kwa , J Y & de Vries , B B A 2021 , ' Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome ' , EJHG . https://doi.org/10.1038/s41431-021-00824-x

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/711d4da1-cd5b-4c12-bb11-d649e5fbcf5f
https://research.rug.nl/en/publications/711d4da1-cd5b-4c12-bb11-d649e5fbcf5f
https://doi.org/10.1038/s41431-021-00824-x
https://pure.rug.nl/ws/files/160755353/Quantitative_facial_phenotyping_for_Koolen_de_Vries_and_22q11.2_deletion_syndrome.pdf