المؤلفون: Rodriguez-Palmero, A, Boerrigter, MM, Gomez-Andres, D, Aldinger, KA, Marcos-Alcalde, I, Popp, B, Everman, DB, Lovgren, AK, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, AM, Bjerregaard, VA, Bruel, AL, Challman, TD, Cogne, B, Coubes, C, de Man, SA, Denomme-Pichon, AS, Dye, TJ, Elmslie, F, Feuk, L, Garcia-Minaur, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, TB, Haldeman-Englert, CR, Haukanes, BI, Hoyer, J, Hurst, ACE, Isidor, B, Soller, MJ, Kushary, S, Kvarnung, M, Landau, YE, Leppig, KA, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, BA, Moghadasi, S, Morton, JE, Moutton, S, Muuller, AJ, O'Leary, M, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, MJ, Ruivenkamp, CAL, Sarrazin, E, Savatt, JM, Schluter, A, Schonewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, JT, Shohat, M, Spranger, S, Thiese, H, Mau-Them, FT, van Bon, B, van de Burgt, I, van de Laar, IMBH, van Drie, E, van Haelst, MM, van Ravenswaaij-Arts, CM, Verdura, E, Vitobello, A, Waldmuller, S, Whiting, S, Zweier, C, Prada, CE, de Vries, BBA, Dobyns, WB, Reiter, SF, Gomez-Puertas, P, Pujol, A, Tumer, Z

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145879815

المؤلفون: van der Sluijs, P. J., Gösgens, M., Dingemans, A. J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S. A., Alders, M., Alkuraya, F. S., Alorainy, I., Alsaif, H. S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B. W., Brunet, T., Brunner, H., Carriero, M. L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R. K., Eichler, E. E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A. M., Hashem, M. O., Heide, S., Heron, D., Hickey, S. E., Hopman, S. M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J. S., Kurtz-Nelson, E. C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G. S., Pinto, A. M., Rossi, M., Seri, M., de Vries, B. B.A., Wang, T.

المصدر: van der Sluijs , P J , Gösgens , M , Dingemans , A J M , Striano , P , Riva , A , Mignot , C , Faudet , A , Vasileiou , G , Walther , M , Schrier Vergano , S A , Alders , M , Alkuraya , F S , Alorainy , I , Alsaif , H S , Anderlid , B , Bache , I , van Beek , I , Blanluet , M , van Bon , B W , Brunet , T , Brunner , H , Carriero , M ....

مصطلحات موضوعية: Adult, ARID1B, Coffin–Siris syndrome, Developmental delay, Intellectual disability

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/f87ae6b1-dd0e-46b3-9862-f9dfeebe5002
https://research.rug.nl/en/publications/f87ae6b1-dd0e-46b3-9862-f9dfeebe5002
https://doi.org/10.1016/j.gimo.2024.101873
https://pure.rug.nl/ws/files/1176147453/1-s2.0-S2949774424010197-main_1_.pdf
http://www.scopus.com/inward/record.url?scp=85208508293&partnerID=8YFLogxK

المؤلفون: Früh, S., Boudkkazi, S., Koppensteiner, P., Sereikaite, V., Chen, L.Y., Fernandez-Fernandez, D., Rem, P.D., Ulrich, D., Schwenk, J., Chen, Z., Le Monnier, E., Fritzius, T., Innocenti, S.M., Besseyrias, V., Trovò, L., Stawarski, M., Argilli, E., Sherr, E.H., van Bon, B., Kamsteeg, E.J., Iascone, M., Pilotta, A., Cutrì, M.R., Azamian, M.S., Hernández-García, A., Lalani, S.R., Rosenfeld, J.A., Zhao, X., Vogel, T.P., Ona, H., Scott, D.A., Scheiffele, P., Strømgaard, K., Tafti, M., Gassmann, M., Fakler, B., Shigemoto, R., Bettler, B.

المصدر: Science advances, vol. 10, no. 28, pp. eadk5462

مصطلحات موضوعية: Animals, Female, Humans, Male, Mice, Alleles, Epilepsy/metabolism, Epilepsy/genetics, Epilepsy/pathology, Loss of Function Mutation, Knockout, Neurodevelopmental Disorders/metabolism, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Neuronal Plasticity, Neurons/metabolism, Neurotransmitter Agents/metabolism, Synapses/metabolism, Synaptic Transmission, Cell Adhesion Molecules/genetics, Cell Adhesion Molecules/metabolism

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38985877; info:eu-repo/semantics/altIdentifier/eissn/2375-2548; https://serval.unil.ch/notice/serval:BIB_7A8C59E2CF12; https://serval.unil.ch/resource/serval:BIB_7A8C59E2CF12.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_7A8C59E2CF12
https://doi.org/10.1126/sciadv.adk5462
https://serval.unil.ch/resource/serval:BIB_7A8C59E2CF12.P001/REF.pdf

المؤلفون: Dingemans, A., Hinne, M., Truijen, K., Goltstein, L., Van Reeuwijk, J., De Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I., Den Hoed, J., De Boer, E., Coenen-Van der Spek, J., Jansen, S., Van Bon, B., Jonis, N., Ockeloen, C., Vulto-van Silfhout, A., Kleefstra, T., Koolen, D., Campeau, P., Palmer, E., Van Esch, H., Lyon, G., Alkuraya, F., Rauch, A., Marom, R., Baralle, D., Van der Sluijs, P., Santen, G., Kooy, R., Van Gerven, M., Vissers, L., De Vries, B.

المصدر: Nature Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000D-91D4-F; http://hdl.handle.net/21.11116/0000-000D-91D7-C; http://hdl.handle.net/21.11116/0000-000D-E5D8-D

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-91D4-F
http://hdl.handle.net/21.11116/0000-000D-91D7-C
http://hdl.handle.net/21.11116/0000-000D-E5D8-D

المؤلفون: Houten, M. van, Vloet, L.C.M., Olde Rikkert, M.G.M., Kerkhof-van Bon, B. van de, Rooij, Anneriek de, Verhoeven, Marieke, Schoon, Y., Berben, S.A.A.

المصدر: BMC Emergency Medicine, 24, 1

مصطلحات الفهرس: Radboudumc 18: Healthcare improvement science Geriatrics, Radboudumc 1: Alzheimer`s disease DCMN: Donders Center for Medical Neuroscience, IQ health - Radboud University Medical Center, Radboud University Medical Center, Article / Letter to editor

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/305286/305286.pdf
https://repository.ubn.ru.nl/handle/2066/305286

المؤلفون: Holkenborg, J., Frenken, B.A., Kerkhof-van Bon, B. van de, Vroegop, M.P., Meggelen, M.G.M. van, Kramers, C., Schellekens, A.F.A., Kraaijvanger, N.

المصدر: Nederlands Tijdschrift voor Geneeskunde, 168, pp. D8186

مصطلحات موضوعية: Emergency Medicine - Radboud University Medical Center, Internal Medicine - Radboud University Medical Center, Pharmacy - Radboud University Medical Center, Psychiatry - Radboud University Medical Center, Psychiatry - Radboud University Medical Center - DCMN

Relation: https://hdl.handle.net/2066/315185

الاتاحة: https://hdl.handle.net/2066/315185

المؤلفون: Holkenborg, J., Frenken, B.A., Kerkhof-van Bon, B. van de, Vroegop, M.P., Meggelen, M.G.M. van, Kramers, C., Schellekens, A.F.A., Kraaijvanger, A.M.M.

المصدر: Nederlands Tijdschrift voor Geneeskunde, 168

مصطلحات موضوعية: Developmental Psychopathology, Emergency Medicine - Radboud University Medical Center, Internal Medicine - Radboud University Medical Center, Pharmacy - Radboud University Medical Center, Psychiatry - Radboud University Medical Center, Psychiatry - Radboud University Medical Center - DCMN

Relation: https://hdl.handle.net/2066/307600

الاتاحة: https://hdl.handle.net/2066/307600

المؤلفون: Holkenborg, J., Frenken, B.A., Kerkhof-van Bon, B. van de, Vroegop, M.P., Meggelen, M.G.M. van, Kramers, C., Schellekens, A.F.A., Kraaijvanger, A.M.M.

المصدر: Journal of Evaluation in Clinical Practice, 30, 3, pp. 473-480

مصطلحات موضوعية: Developmental Psychopathology, Experimental Psychopathology and Treatment

Relation: https://repository.ubn.ru.nl/handle/2066/304289

الاتاحة: https://repository.ubn.ru.nl/handle/2066/304289
https://doi.org/10.1111/jep.13965

المؤلفون: Wong, M., Kampen, R., Braden, R., Alagöz, G., Hildebrand, M., Barnett, C., Barnett, M., Brusco, A., Carli, D., De Vries, B., Dingemans, A., Elmslie, F., Ferrero, G., Jansen, N., Van de Laar, I., Moroni, A., Mowat, D., Murray, L., Novara, F., Peron, A., Scheffer, I., Sirchia, F., Turner, S., Vignoli, A., Vino, A., Weber, S., Chung, W., Gerard, M., López-González, V., Palmer, E., Morgan, A., Van Bon, B., Fisher, S.

المصدر: medRxiv

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000B-304F-7; http://hdl.handle.net/21.11116/0000-000B-3051-3

الاتاحة: http://hdl.handle.net/21.11116/0000-000B-304F-7
http://hdl.handle.net/21.11116/0000-000B-3051-3

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: Kargapolova, Y., Rehimi, R., Kayserili, H., Brühl, J., Sofiadis, K., Zirkel, A., Palikyras, S., Mizi, A., Li, Y., Yigit, G., Hoischen, A., Frank, S., Russ, N., Trautwein, J., van Bon, B., Gilissen, C., Laugsch, M., Gusmao, E.G., Josipovic, N., Altmüller, J., Nürnberg, P., Längst, G., Kaiser, F.J., Watrin, Erwan, Brunner, H., Rada-Iglesias, A., Kurian, L., Wollnik, B., Bouazoune, K., Papantonis, A.

المساهمون: University of Cologne, University Hospital of Cologne Cologne, Koç University, Philipps Universität Marburg = Philipps University of Marburg, University Medical Center Göttingen (UMG), Radboud University Medical Center Nijmegen, University of Heidelberg, Medical Faculty, University of Regensburg, Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universidad de Cantabria Santander = University of Cantabria Spain = Université de Cantabrie Espagne (UC / UniCan), Georg-August-University = Georg-August-Universität Göttingen, Deutsche Forschungsgemeinschaft, DFG: 109546710, 2015_A125, 360043781, 397484323, CCRC2407, TRR259, Göttinger Graduiertenschule für Neurowissenschaften, Biophysik und Molekulare Biowissenschaften, GGNB, Uniklinikum Giessen und Marburg, UKGM: 5/2016, Open Access funding enabled and organized by Projekt DEAL.

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: chemical binding, DNA, enzyme activity, gene expression, genomics, pathology, protein, CHD6 protein, human, DNA binding protein, DNA helicase, nerve protein, autophagy, chromatin, chromatin assembly and disassembly, DNA damage, epigenetics, gene editing, genetics, Hallermann Streiff syndrome, metabolism, mutation, phenotype, physiology, DNA Helicases, DNA-Binding Proteins, Epigenomics, Hallermann's Syndrome, Humans, Nerve Tissue Proteins

Relation: info:eu-repo/semantics/altIdentifier/pmid/34021162; hal-03283991; https://hal.science/hal-03283991; https://hal.science/hal-03283991/document; https://hal.science/hal-03283991/file/s41467-021-23327-1.pdf; PUBMED: 34021162

الاتاحة: https://hal.science/hal-03283991
https://hal.science/hal-03283991/document
https://hal.science/hal-03283991/file/s41467-021-23327-1.pdf
https://doi.org/10.1038/s41467-021-23327-1

المؤلفون: Morgan, A., Braden, R., Wong, M., Colin, E., Amor, D., Liégeois, F., Srivastava, S., Vogel, A., Bizaoui, V., Ranguin, K., Fisher, S., Van Bon, B.

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0008-6AC4-4; http://hdl.handle.net/21.11116/0000-0009-2949-8

الاتاحة: http://hdl.handle.net/21.11116/0000-0008-6AC4-4
http://hdl.handle.net/21.11116/0000-0009-2949-8

المؤلفون: Stolz, J. R., Foote, K. M., Veenstra-Knol, H. E., Pfundt, R., Ten Broeke, S. W., de Leeuw, N., Roht, L., Pajusalu, S., Part, R., Rebane, I., Õunap, K., Stark, Z., Kirk, E. P., Lawson, J. A., Lunke, S., Christodoulou, J., Louie, R. J., Rogers, R. C., Davis, J. M., Innes, A. M., Wei, X. C., Keren, B., Mignot, C., Lebel, R. R., Sperber, S. M., Sakonju, A., Dosa, N., Barge-Schaapveld, Dqcm, Peeters-Scholte, Cmpcd, Ruivenkamp, C. A. L., van Bon, B. W., Kennedy, J., Low, K. J., Ellard, S., Pang, L., Junewick, J. J., Mark, P. R., Carvill, G. L., Swanson, G. T.

مصطلحات موضوعية: Adolescent, Adult, Alleles, Brain/diagnostic imaging/*metabolism/pathology, Child, Preschool, Developmental Disabilities/diagnostic imaging/*genetics/metabolism/pathology, Epilepsy/diagnostic imaging/*genetics/metabolism/pathology, Evoked Potentials/physiology, Gene Expression Regulation, Developmental, Genetic Association Studies, Heterozygote, Homozygote, Humans, Intellectual Disability/diagnostic imaging/*genetics/metabolism/pathology, Ion Channel Gating, Male, Models, Molecular, Mutation, Neurons/metabolism/pathology, Protein Conformation, Receptors, Kainic Acid/chemistry/*genetics/metabolism, GluK2, ataxia, channel gating, electrophysiology, epilepsy

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00275-5; Am J Hum Genet. 2021 Sep 2;108(9):1692-1709. doi:10.1016/j.ajhg.2021.07.007. Epub 2021 Aug 9.; https://rde.dspace-express.com/handle/11287/622128; American journal of human genetics

الاتاحة: https://doi.org/10.1016/j.ajhg.2021.07.007
https://rde.dspace-express.com/handle/11287/622128

المؤلفون: Tripathy, R, Leca, I, Van Dijk, T, Weiss, J, Van Bon, B, Sergaki, M, Gstrein, T, Breuss, M, Tian, G, Bahi-Buisson, N, Paciorkowski, A, Pagnamenta, A, Wenninger-Weinzierl, A, Martinez-Reza, M, Landler, L, Lise, S, Taylor, J, Terrone, G, Vitiello, G, Del Giudice, E, Brunetti-Pierri, N, D'Amico, A, Reymond, A, Voisin, N, Bernstein, J, Farrelly, E, Kini, U, Leonard, T, Valence, S, Burglen, L, Armstrong, L, Hiatt, S, Cooper, G, Aldinger, K, Dobyns, W, Mirzaa, G, Pierson, T, Baas, F, Chelly, J, Cowan, N, Keays, D

Relation: https://ora.ox.ac.uk/objects/uuid:5dfdb65d-ff62-459d-a7e6-b73ff8b8be82; https://doi.org/10.1016/j.neuron.2018.10.044

الاتاحة: https://doi.org/10.1016/j.neuron.2018.10.044
https://ora.ox.ac.uk/objects/uuid:5dfdb65d-ff62-459d-a7e6-b73ff8b8be82

المؤلفون: Van Eyk, C., Corbett, M., Gardner, A., Van Bon, B., Broadbent, J., Harper, K., MacLennan, A., Gecz, J.

المصدر: http://dx.doi.org/10.1038/s41398-018-0136-4.

مصطلحات موضوعية: Cell Line, Humans, Cerebral Palsy, Genetic Predisposition to Disease, Receptor, trkB, Membrane Glycoproteins, Cohort Studies, Gene Expression Profiling, Signal Transduction, Gene Expression Regulation, Developmental, Female, Male, Fibroblast Growth Factor, Type 1, Gene Regulatory Networks, Transcriptome, Autism Spectrum Disorder, Exome Sequencing

وصف الملف: application/pdf

Relation: http://purl.org/au-research/grants/nhmrc/1019928; http://purl.org/au-research/grants/nhmrc/1099163; http://purl.org/au-research/grants/nhmrc/1041920; Translational Psychiatry, 2018; 8(1):88 -1-88 -10; http://hdl.handle.net/2440/112409; Van Eyk, C. [0000-0003-0345-9944]; Corbett, M. [0000-0001-9298-3072]; Gardner, A. [0009-0009-7321-1697]; Gecz, J. [0000-0002-7884-6861]

الاتاحة: http://hdl.handle.net/2440/112409
https://doi.org/10.1038/s41398-018-0136-4

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Bruno, DL, Anderlid, BM, Lindstrand, A, van Ravenswaaij-Arts, C, Ganesamoorthy, D, Lundin, J, Martin, CL, Douglas, J, Nowak, C, Adam, MP, Kooy, RF, Van der Aa, N, Reyniers, E, Vandeweyer, G, Stolte-Dijkstra, I, Dijkhuizen, T, Yeung, A, Delatycki, M, Borgstrom, B, Thelin, L, Cardoso, C, van Bon, B, Pfundt, R, de Vries, BBA, Wallin, A, Amor, DJ, James, PA, Slater, HR, Schoumans, J

المصدر: Journal of medical genetics. 47(5):299-311

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:120406443

المؤلفون: Acuna-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, S., Van Dam, S., Hoover-Fong, J., Telegrafi, A., Destree, A., Smigiel, R., Lambie, L., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M., Aracena, M., Nur, B., Mihci, E., Moreira, L., Ferreira, V., Horovitz, D., Da Rocha, K., Jezela-Stanek, A., Brooks, A., Reutter, H., Cohen, J., Fatemi, A., Smitka, M., Grebe, T., Di Donato, N., Deshpande, C., Vandersteen, A., Marques Lourenço, C., Dufke, A., Rossier, E., Andre, G., Baumer, A., Spencer, C., McGaughran, J., Franke, L., Veltman, J., De Vries, B., Schinzel, A., Fisher, S., Hoischen, A., Van Bon, B.

المصدر: PLoS Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-002C-A655-F; http://hdl.handle.net/11858/00-001M-0000-002C-F524-2

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002C-A655-F
http://hdl.handle.net/11858/00-001M-0000-002C-F524-2

المؤلفون: Traa, Amber Carlijn, Sir, O., Frazer, Sanne W.T., Kerkhof-van Bon, B. van de, Blatter, Birgitte, Tan, E.C.T.H.

المصدر: Children, 9, 3

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 10: Reconstructive and regenerative medicine RIHS: Radboud Institute for Health Sciences, Radboudumc 18: Healthcare improvement science RIHS: Radboud Institute for Health Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/248789/248789.pdf; https://repository.ubn.ru.nl/handle/2066/248789

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/248789/248789.pdf
https://repository.ubn.ru.nl/handle/2066/248789
https://doi.org/10.3390/children9030325

المؤلفون: Radio F. C., Pang K., Ciolfi A., Levy M. A., Hernandez-Garcia A., Pedace L., Pantaleoni F., Liu Z., de Boer E., Jackson A., Bruselles A., McConkey H., Stellacci E., Lo Cicero S., Motta M., Carrozzo R., Dentici M. L., McWalter K., Desai M., Monaghan K. G., Telegrafi A., Philippe C., Vitobello A., Au M., Grand K., Sanchez-Lara P. A., Baez J., Lindstrom K., Kulch P., Sebastian J., Madan-Khetarpal S., Roadhouse C., MacKenzie J. J., Monteleone B., Saunders C. J., Jean Cuevas J. K., Cross L., Zhou D., Hartley T., Sawyer S. L., Monteiro F. P., Secches T. V., Kok F., Schultz-Rogers L. E., Macke E. L., Morava E., Klee E. W., Kemppainen J., Iascone M., Selicorni A., Tenconi R., Amor D. J., Pais L., Gallacher L., Turnpenny P. D., Stals K., Ellard S., Cabet S., Lesca G., Pascal J., Steindl K., Ravid S., Weiss K., Castle A. M. R., Carter M. T., Kalsner L., de Vries B. B. A., van Bon B. W., Wevers M. R., Pfundt R., Stegmann A. P. A., Kerr B., Kingston H. M., Chandler K. E., Sheehan W., Elias A. F., Shinde D. N., Towne M. C., Robin N. H., Goodloe D., Vanderver A., Sherbini O., Bluske K., Hagelstrom R. T., Zanus C., Faletra F., Musante L., Kurtz-Nelson E. C., Earl R. K., Anderlid B. -M., Morin G., van Slegtenhorst M., Diderich K. E. M., Brooks A. S., Gribnau J., Boers R. G., Finestra T. R., Carter L. B., Rauch A., Gasparini P., Boycott K. M., Barakat T. S., Graham J. M., Faivre L., Banka S., Wang T., Eichler E. E., Priolo M., Dallapiccola B., Vissers L. E. L. M., Sadikovic B., Scott D. A., Holder J. L., Tartaglia M.

المساهمون: Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P.

مصطلحات موضوعية: 1p36, distal 1p36 deletion syndrome, DNA methylome analysi, episignature, genotype-phenotype correlation, neurodevelopmental disorder, obesity, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Autism Spectrum Disorder, Child, Preschool, Chromosome Deletion, Chromosome Disorder, Chromosomes, Human, Pair 1, DNA Methylation, DNA-Binding Protein, Epigenesis, Genetic, Female, Haploinsufficiency, Intellectual Disability, Male, Phenotype, RNA-Binding Protein

Relation: info:eu-repo/semantics/altIdentifier/pmid/33596411; info:eu-repo/semantics/altIdentifier/wos/WOS:000629143200015; volume:108; issue:3; firstpage:502; lastpage:516; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/2993648; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101770406; https://www.sciencedirect.com/science/article/pii/S000292972100015X?via=ihub; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008487/

الاتاحة: http://hdl.handle.net/11368/2993648
https://doi.org/10.1016/j.ajhg.2021.01.015
https://www.sciencedirect.com/science/article/pii/S000292972100015X?via=ihub
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008487/