المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المصدر: van der Laan , L , Silva , A , Kleinendorst , L , Rooney , K , Haghshenas , S , Lauffer , P , Alanay , Y , Bhai , P , Brusco , A , de Munnik , S , de Vries , B B A , Vega , A D , Engelen , M , Herkert , J C , Hochstenbach , R , Hopman , S , Kant , S G , Kira , R , Kato , M , Keren , B , Kroes , H Y , Levy , M A , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/cbc3d29e-20f6-4c73-a278-a49f7040b8be
https://doi.org/10.1016/j.xhgg.2024.100380
https://pure.eur.nl/ws/files/180480699/1-s2.0-S2666247724001209-main.pdf
http://www.scopus.com/inward/record.url?scp=85209580203&partnerID=8YFLogxK

المؤلفون: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, Van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid, Mannens, Marcel M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.

مصطلحات موضوعية: Orvostudományok, Klinikai orvostudományok

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2437/370348; https://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM121419; https://linkinghub.elsevier.com/retrieve/pii/S2666247724000289; http://dx.doi.org/10.1016/j.xhgg.2024.100289

الاتاحة: https://hdl.handle.net/2437/370348
https://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM121419
https://linkinghub.elsevier.com/retrieve/pii/S2666247724000289
https://doi.org/10.1016/j.xhgg.2024.100289

المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: CUL3, DNA methylation, episignature, genotype-phenotype correlation, intellectual disability, NEDAUS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We would like to thank the participants described in this study. Funding for this study was provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188) . L.v.d.L. received the AR&D Travel Grant from Amsterdam UMC, which provided financial support for this work. T.S.B. was supported by the Netherlands Organisation for Scientific Research (ZonMw Vidi, grant 09150172110002) and acknowledges ongoing support from EpilepsieNL and CURE Epilepsy. N.M. and T.M. were supported by the Takeda Science Foundation, with additional support for T.M. from JSPS KAKENHI under grant nos. JP23K27568 and JP23K18278.; http://hdl.handle.net/10138/588621; 85209580203; 001364279900001

الاتاحة: http://hdl.handle.net/10138/588621

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

المصدر: Human Genetics and Genomics Advances ; volume 5, issue 4, page 100337 ; ISSN 2666-2477

الاتاحة: https://doi.org/10.1016/j.xhgg.2024.100337
https://api.elsevier.com/content/article/PII:S2666247724000770?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247724000770?httpAccept=text/plain

المؤلفون: Müller, Annelieke R, Boot, Erik, Notermans, Stijn B, Schuengel, Carlo, Henneman, Lidewij, Cornel, Martina C, van Haelst, Mieke M, Alders, Mariëlle, van Karnebeek, Clara D M, Bijl, Bas, Wijburg, Frits A, van Eeghen, Agnies M

المصدر: Müller , A R , Boot , E , Notermans , S B , Schuengel , C , Henneman , L , Cornel , M C , van Haelst , M M , Alders , M , van Karnebeek , C D M , Bijl , B , Wijburg , F A & van Eeghen , A M 2024 , ' Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review ' , Orphanet journal of rare diseases , vol. 19 , no. 1 , 346 , pp. 346 . https://doi.org/10.1186/s13023-024-03323-6

مصطلحات موضوعية: Humans, Intellectual Disability/genetics, Retrospective Studies, Male, Female, Adult, Adolescent, Young Adult, Child, Genetic Testing, Netherlands, Middle Aged, Preschool

الاتاحة: https://research.vu.nl/en/publications/cf710451-3150-40e3-8c1e-aefda00c1792
https://doi.org/10.1186/s13023-024-03323-6
https://hdl.handle.net/1871.1/cf710451-3150-40e3-8c1e-aefda00c1792

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: Hoogenboom, Amarens, Falix, Farah A, van der Laan, Liselot, Kerkhof, Jennifer, Alders, Mariëlle, Sadikovic, Bekim, van Haelst, Mieke M

المصدر: Hoogenboom , A , Falix , F A , van der Laan , L , Kerkhof , J , Alders , M , Sadikovic , B & van Haelst , M M 2024 , ' Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome : phenotype description and review of the literature ' , European Journal of Human Genetics , vol. 32 , no. 4 , pp. 435-439 . https://doi.org/10.1038/s41431-023-01527-1

الاتاحة: https://research.vumc.nl/en/publications/3439aec6-893c-4983-b401-ff5b588373de
https://doi.org/10.1038/s41431-023-01527-1
http://www.scopus.com/inward/record.url?scp=85183004305&partnerID=8YFLogxK

المؤلفون: Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, van Haelst, Mieke M

المساهمون: Genetica Klinische Genetica, Cancer, Child Health

مصطلحات موضوعية: Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/453461

الاتاحة: https://dspace.library.uu.nl/handle/1874/453461

المؤلفون: van der Smagt, Jasper J., Lampri, Angeliki P., de Lange, Iris, Alders, Mariëlle, Houben, Michiel L., Koudijs, Marco J., van Jaarsveld, Richard H.

المساهمون: Genetica, Genetica Klinische Genetica, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Oper.Mang. Clinical Genetics, Child Health, Algemeen management, Cluster D, Integrale & Alg. Kindergen Patientenzorg

مصطلحات موضوعية: Humans, X-linked Nuclear Protein/genetics, Introns, Male, Mutation, Mental Retardation, X-Linked/genetics, Genetics, Genetics(clinical), Case Reports, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454218

الاتاحة: https://dspace.library.uu.nl/handle/1874/454218

المؤلفون: Rots, Dmitrijs, Rooney, Kathleen, Relator, Raissa, Kerkhof, Jennifer, Mcconkey, Haley, Pfundt, Rolph, Marcelis, Carlo, Willemsen, Marjolein H., van Hagen, Johanna M., Zwijnenburg, Petra, Alders, Marielle, Ounap, Katrin, Reimand, Tiia, Fjodorova, Olga, Berland, Siren, Liahjell, Eva Benedicte, Bojovic, Ognjen, Kriek, Marjolein, Ruivenkamp, Claudia, Bonati, Maria Teresa, Brunner, Han G., Vissers, Lisenka E. L. M., Sadikovic, Bekim, Kleefstra, Tjitske

المصدر: Rots , D , Rooney , K , Relator , R , Kerkhof , J , Mcconkey , H , Pfundt , R , Marcelis , C , Willemsen , M H , van Hagen , J M , Zwijnenburg , P , Alders , M , Ounap , K , Reimand , T , Fjodorova , O , Berland , S , Liahjell , E B , Bojovic , O , Kriek , M , Ruivenkamp , C , Bonati , M T , Brunner , H G , Vissers , L E L M , Sadikovic , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/36936c24-ab1c-427d-a5b6-81b1b6468f1e
https://doi.org/10.1111/cge.14498
https://pure.eur.nl/ws/files/138218798/Clinical_Genetics_-_2024_-_Rots_-_Refining_the_9q34_3_microduplication_syndrome_reveals_mild_neurodevelopmental_features.pdf
http://www.scopus.com/inward/record.url?scp=85186391649&partnerID=8YFLogxK

المؤلفون: Karimi, Karim, Mol, Merel O., Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Brooks, Alice, Zonneveld-Huijssoon, Evelien, Gerkes, Erica H., Tedder, Matthew L., Vissers, Lisenka, Salzano, Emanuela, Piccione, Maria, Asaftei, Sebastian Dorin, Carli, Diana, Mussa, Alessandro, Shukarova-Angelovska, Elena, Trajkova, Slavica, Brusco, Alfredo, Merla, Giuseppe, Alders, Marielle M., Bouman, Arjan, Sadikovic, Bekim

المصدر: Karimi , K , Mol , M O , Haghshenas , S , Relator , R , Levy , M A , Kerkhof , J , McConkey , H , Brooks , A , Zonneveld-Huijssoon , E , Gerkes , E H , Tedder , M L , Vissers , L , Salzano , E , Piccione , M , Asaftei , S D , Carli , D , Mussa , A , Shukarova-Angelovska , E , Trajkova , S , Brusco , A , Merla , G , Alders , M M , Bouman , A & Sadikovic ....

مصطلحات موضوعية: CTCF, Developmental disorder, DNA methylation, Episignature, IDD21

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/750ffa59-fa75-4354-add7-4745d5353e0f
https://research.rug.nl/en/publications/750ffa59-fa75-4354-add7-4745d5353e0f
https://doi.org/10.1016/j.gim.2023.101041
https://pure.rug.nl/ws/files/930916570/Identification_of_DNA_methylation_episignature_for_the_intellectual_developmental_disorder_autosomal_dominant_21_syndrome_caused_by_variants_in_the_CTCF_gene.pdf
http://www.scopus.com/inward/record.url?scp=85182571710&partnerID=8YFLogxK

المؤلفون: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A, Trajkova, Slavica, Huisman, Sylvia A, Bijlsma, Emilia K, Kleefstra, Tjitske, van Bon, Bregje W, Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W, van Hagen, Johanna M, Plomp, Astrid S, Mannens, Marcel M A M, Alders, Mariëlle, van Haelst, Mieke M, Ferrero, Giovanni B, Brusco, Alfredo, Henneman, Peter, Sweetser, David A, Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A

المصدر: van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; . (2024). DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. (In Press). HGG advances, 5(3), p. 100289. Elsevier 10.1016/j.xhgg.2024.100289

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/195669/

الاتاحة: https://boris.unibe.ch/195669/1/1-s2.0-S2666247724000289-main.pdf
https://boris.unibe.ch/195669/

المؤلفون: Sarli, Camilla, van der Laan, Liselot, Reilly, Jack, Trajkova, Slavica, Carli, Diana, Brusco, Alfredo, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Tedder, Matthew L., Skinner, Cindy, Alders, Mariëlle, Henneman, Peter, Hennekam, Raoul C. M., Ciaccio, Claudia, D'Arrigo, Stefano, Vitobello, Antonio, Faivre, Laurence, Weber, Sacha, Vincent‐Devulder, Aline, Perrin, Laurence, Bourgois, Alexia, Yamamoto, Toshiyuki, Metcalfe, Kay, Zollino, Marcella, Kini, Usha, Oliveira, Daniela, Sousa, Sergio B., Williams, Denise, Cappuccio, Gerarda, Sadikovic, Bekim, Brunetti‐Pierri, Nicola

المساهمون: Fondazione Telethon

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 196, issue 4 ; ISSN 1552-4868 1552-4876

الاتاحة: https://doi.org/10.1002/ajmg.c.32089
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32089

المؤلفون: Sluijs, Pleuntje J. van der, Moutton, Sebastien, Dingemans, A.J.M., Weis, Denisa, Levy, Michael A., Boycott, Kym M., Kempers, M.J.E., Vries, B.B.A. de, Alders, Marielle, Santen, Gijs W.E.

المصدر: Genetics in Medicine, 27, 1, pp. 101283

مصطلحات موضوعية: Human Genetics - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/313611/313611.pdf; https://hdl.handle.net/2066/313611

الاتاحة: https://hdl.handle.net/2066/313611
https://repository.ubn.ru.nl//bitstream/handle/2066/313611/313611.pdf
https://doi.org/10.1016/j.gim.2024.101283

المؤلفون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

المساهمون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niel, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Bori, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

مصطلحات موضوعية: CNV, DNA methylation, Epigenetic, Epilepsy, Episignature, HNRNPU, Intellectual disability, Neurodevelopmental Disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/37120726; firstpage:100871; lastpage:100871; numberofpages:1; journal:GENETICS IN MEDICINE; https://hdl.handle.net/2318/1903993; https://www.gimjournal.org/article/S1098-3600(23)00884-5/pdf

الاتاحة: https://hdl.handle.net/2318/1903993
https://doi.org/10.1016/j.gim.2023.100871
https://www.gimjournal.org/article/S1098-3600(23)00884-5/pdf

المؤلفون: Fischer, Jan¹ (AUTHOR) jan.fischer@ukdd.de, Alders, Mariëlle² (AUTHOR), Mannens, Marcel M. A. M.² (AUTHOR), Genevieve, David³ (AUTHOR), Hackmann, Karl¹ (AUTHOR), Schröck, Evelin^1,4 (AUTHOR), Sadikovic, Bekim^5,6 (AUTHOR), Porrmann, Joseph^1,7 (AUTHOR) joseph.porrmann@ukdd.de

المصدر: Clinical Epigenetics. 1/13/2025, Vol. 17 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *CONGENITAL heart disease, *GENETIC variation, *MISSENSE mutation, *DEVELOPMENTAL delay, *PROGNOSIS

المؤلفون: van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A. J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M. E. Suzanne, Lichty, Angie, Mannens, Marcel M. A. M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المصدر: van Jaarsveld , R H , Reilly , J , Cornips , M-C , Hadders , M A , Agolini , E , Ahimaz , P , Anyane-Yeboa , K , Bellanger , S A , van Binsbergen , E , van den Boogaard , M-J , Brischoux-Boucher , E , Caylor , R C , Ciolfi , A , van Essen , T A J , Fontana , P , Hopman , S , Iascone , M , Javier , M M , Kamsteeg , E-J , Kerkhof , J , Kido , J , Kim , H-G ....

الاتاحة: https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307dd
https://doi.org/10.1016/j.gim.2022.09.006
http://www.scopus.com/inward/record.url?scp=85141320488&partnerID=8YFLogxK

المؤلفون: van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A., Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A., Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M., Sadikovic, Bekim, Henneman, Peter

المصدر: van der Laan , L , Rooney , K , Haghshenas , S , Silva , A , McConkey , H , Relator , R , Levy , M A , Valenzuela , I , Trujillano , L , Lasa-Aranzasti , A , Campos , B , Castells , N , Verberne , E A , Maas , S , Alders , M , Mannens , M M A M , van Haelst , M M , Sadikovic , B & Henneman , P 2023 , ' Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental ....

Relation: https://research.vumc.nl/en/publications/d9130695-6c73-4fd2-a596-371529c54b8d

الاتاحة: https://research.vumc.nl/en/publications/d9130695-6c73-4fd2-a596-371529c54b8d
https://doi.org/10.3390/ijms241814240
http://www.scopus.com/inward/record.url?scp=85172807925&partnerID=8YFLogxK

المؤلفون: Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, Stevenson, Roger E.

المصدر: Wang , J , Foroutan , A , Richardson , E , Skinner , S A , Reilly , J , Kerkhof , J , Curry , C J , Tarpey , P S , Robertson , S P , Maystadt , I , Keren , B , Dixon , J W , Skinner , C , Stapleton , R , Ruaud , L , Gumus , E , Lakeman , P , Alders , M , Tedder , M L , Schwartz , C E , Friez , M J , Sadikovic , B & Stevenson , R ....

الاتاحة: https://research.vumc.nl/en/publications/997b99b3-f07d-4718-b2bd-8befa9f38299
https://doi.org/10.1038/s41431-023-01499-2
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178482395&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/38040915

المؤلفون: van Jaarsveld, Richard H, Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A, Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C, Ciolfi, Andrea, van Essen, Ton A J, Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M, Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A, Lewis, M E Suzanne, Lichty, Angie, Mannens, Marcel M A M, Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A, Yosovich, Keren, Yuskaitis, Christopher J, Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المساهمون: Genetica Sectie Genoomdiagnostiek, CMM Groep Lens, Cancer, Child Health, Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Human Genetics, KDM2B, MDEMs, Methylation signatures, Neurodevelopmental disorders, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447389

الاتاحة: https://dspace.library.uu.nl/handle/1874/447389