المؤلفون: Merckx, Nona Laura Lisa^1,2,3 (AUTHOR) hilde.vanesch@kuleuven.be, Esch, Hilde Van^2,3 (AUTHOR)

المصدر: International Journal of Molecular Sciences. Jun2022, Vol. 23 Issue 12, p6476-6476. 12p.

مصطلحات موضوعية: *INTELLECTUAL disabilities, *INDUCED pluripotent stem cells, *SCIENTIFIC literature

المؤلفون: Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François-Guillaume, Destree, Anne, Devriendt, Koen, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Matthijs, Gert, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Coster, Rudy van, Ende, Jenneke Van den, Aa, Nathalie Van der, Esch, Hilde Van, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, PASSEMARD, Sandrine, verloes, alain, Aeby, Alec, Deconinck, Nicolas, Bogaert, Patrick Van, Pirson, Isabelle, Abramowicz, Marc

الإتاحة: https://doi.org/10.22541/au.160978661.19941555/v1Test

المؤلفون: Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke B.G.M., Perez-Aytes, Antonio, Esch, Hilde Van, Kuechler, Alma, Barge-Schaapveld, Daniela Q.C.M., Sznajer, Yves, Mortier, Geert, Menten, Björn

المصدر: Genetics in Medicine ; volume 15, issue 3, page 195-202 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/gim.2012.120Test
http://www.nature.com/articles/gim2012120.pdfTest
http://www.nature.com/articles/gim2012120Test
https://api.elsevier.com/content/article/PII:S1098360021042416?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021042416?httpAccept=text/plainTest

المؤلفون: Huayu Zhang, Prins, Jurriën, Vreeken, Dianne, Florijn, Barend W, Bruin, Ruben G De, Hengel, Oscar RJ Van, Essen, Mieke F Van, Duijs, Jacques MGJ, Esch, Hilde Van, Veer, Eric P Van Der, Zonneveld, Anton Jan Van, Gils, Janine M Van

مصطلحات موضوعية: FOS: Clinical medicine, 110306 Endocrinology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03609f6c7e64f7ad2663b9b9d8e0ccacTest

المؤلفون: Huayu Zhang, Prins, Jurriën, Vreeken, Dianne, Florijn, Barend W, Bruin, Ruben G De, Hengel, Oscar RJ Van, Essen, Mieke F Van, Duijs, Jacques MGJ, Esch, Hilde Van, Veer, Eric P Van Der, Zonneveld, Anton Jan Van, Gils, Janine M Van

مصطلحات موضوعية: FOS: Clinical medicine, 110306 Endocrinology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1040c79b78c7c838fa06451e171be29Test

المؤلفون: Zablotskaya, Alena, Esch, Hilde Van, Verstrepen, Kevin, Froyen, Guy, Vermeesch, Joris

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::849fe904ba5fc2eb8757db325ab25e68Test

المؤلفون: Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, Van Der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, Van Der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, Mackay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, De Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-Van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, De Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela Qcm, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, Didonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie Van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, Deedee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A

المصدر: http://infoscience.epfl.ch/record/227170Test.

العلاقة: http://infoscience.epfl.ch/record/227170Test; ISI:000401702800007; https://infoscience.epfl.ch/record/227170/files/mp201684.pdfTest

الإتاحة: https://doi.org/10.1038/mp.2016.84Test
http://infoscience.epfl.ch/record/227170Test
https://infoscience.epfl.ch/record/227170/files/mp201684.pdfTest

المؤلفون: Luca, Chiara De, Race, Valérie, Keldermans, Liesbeth, Bauters, Marijke, Esch, Hilde Van

المصدر: British Medical Bulletin; Mar2020, Vol. 133 Issue 1, p36-48, 13p

مصطلحات موضوعية: INTELLECTUAL disabilities, MOLECULAR diagnosis, FRAGILE X syndrome, GENETIC mutation, GENETIC testing

المؤلفون: Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, Keersmaecker, Bart De, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R., McKanna, Trudy, Keirsbilck, Joachim Van, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Esch, Hilde Van, Gleeson, Joseph G., Valente, Enza Maria

المصدر: Roosing , S , Romani , M , Isrie , M , Rosti , R O , Micalizzi , A , Musaev , D , Mazza , T , Al-gazali , L , Altunoglu , U , Boltshauser , E , D'Arrigo , S , Keersmaecker , B D , Kayserili , H , Brandenberger , S , Kraoua , I , Mark , P R , McKanna , T , Keirsbilck , J V , Moerman , P , Poretti , A , Puri , R , Esch , H V , Gleeson , J G & Valente ....

العلاقة: https://research.vumc.nl/en/publications/768aa1d7-65bf-43f0-86d9-ccc22fa51728Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-103832Test
https://research.vumc.nl/en/publications/768aa1d7-65bf-43f0-86d9-ccc22fa51728Test
http://www.scopus.com/inward/record.url?scp=84966525869&partnerID=8YFLogxKTest

المؤلفون: Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, Witte, Peter A.M.De, Esch, Hilde Van, Goldfarb, Mitchell, Buyse, Gunnar M.

المصدر: Siekierska , A , Isrie , M , Liu , Y , Scheldeman , C , Vanthillo , N , Lagae , L , Witte , P A M D , Esch , H V , Goldfarb , M & Buyse , G M 2016 , ' Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy ' , Neurology , vol. 86 , no. 23 , pp. 2162-2170 . https://doi.org/10.1212/WNL.0000000000002752Test

العلاقة: https://research.vumc.nl/en/publications/fc730bc6-077b-4867-9475-b7a1dd2c9e57Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000002752Test
https://research.vumc.nl/en/publications/fc730bc6-077b-4867-9475-b7a1dd2c9e57Test
http://www.scopus.com/inward/record.url?scp=84973349397&partnerID=8YFLogxKTest