المؤلفون: Jeanne, M, Demory, H, Moutal, A, Vuillaume, ML, Blesson, S, Thepault, RA, Marouillat, S, Halewa, J, Maas, SM, Motazacker, MM, Mancini, GMS, Van Slegtenhorst, MA, Andreou, A, Cox, H, Vogt, J, Laufman, J, Kostandyan, N, Babikyan, D, Hancarova, M, Bendova, S, Sedlacek, Z, Aldinger, KA, Sherr, EH, Argilli, E, England, EM, Audebert-Bellanger, S, Bonneau, D, Colin, E, Denomme-Pichon, AS, Gilbert-Dussardier, B, Isidor, B, Kury, S, Odent, S, Redon, R, Khanna, R, Dobyns, WB, Bezieau, S, Honnorat, J, Lohkamp, B, Toutain, A, Laumonnier, F

المصدر: American journal of human genetics. 108(5):951-961

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146835670Test

المؤلفون: Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, JC, Marco, EJ, Willemsen, MH, Kleefstra, T, Hannibal, M, Shieh, JT, Lynch, SA, Flinter, F, FitzPatrick, DR, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA

المصدر: American journal of human genetics. 100(4):650-658

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135465810Test

المؤلفون: Tadros, R, Francis, C, Xu, X, Vermeer, AMC, Harper, AR, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, ET, te Rijdt, WP, Buchan, RJ, van Velzen, HG, van Slegtenhorst, MA, Vermeulen, JM, Offerhaus, JA, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, JC, Veldink, JH, Kayvanpour, E, Pantazis, A, Baksi, AJ, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, MWT, van Tintelen, JP, Thain, A, McCarty, D, Hegele, RA, Roberts, JD, Amyot, J, Dube, M-P, Cadrin-Tourigny, J, Giraldeau, G, L'Allier, PL, Garceau, P, Tardif, J-C, Boekholdt, SM, Lumbers, RT, Asselbergs, FW, Barton, PJR, Cook, SA, Prasad, SK, O'Regan, DP, van der Velden, J, Verweij, KJH, Talajic, M, Lettre, G, Pinto, YM, Meder, B, Charron, P, de Boer, RA, Christiaans, I, Michels, M, Wilde, AAM, Watkins, H, Matthews, PM, Ware, JS, Bezzina, CR

المصدر: Nature Genetics , 53 pp. 128-134. (2021)

وصف الملف: text; spreadsheet

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10122729/1/Tadros_edver_1601992390_1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10122729/7/NG-LE54093R1_Supplementary_Tables.xlsxTest; https://discovery.ucl.ac.uk/id/eprint/10122729/8/NG-LE54093R1_Supplementary_Material.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10122729Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10122729/1/Tadros_edver_1601992390_1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10122729/7/NG-LE54093R1_Supplementary_Tables.xlsxTest
https://discovery.ucl.ac.uk/id/eprint/10122729/8/NG-LE54093R1_Supplementary_Material.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10122729Test/

المؤلفون: Jansen, M, Baas, AF, van Spaendonck-Zwarts, KY, Ummels, AS, van den Wijngaard, A, Jongbloed, JDH, van Slegtenhorst, MA, Deprez, RHL, Wessels, MW, Michels, M, Houweling, AC, Hoorntje, ET, Helderman-van den Enden, PJTM, Barge-Schaapveld, DQCM, van Tintelen, JP, van den Berg, MP, Wilde, AAM, van Amstel, HKP, Hennekam, EAM, Asselbergs, FW, Sijbrands, EJG, Dooijes, D

المصدر: Circulation: Genomic and Precision Medicine , 12 (5) pp. 213-220. (2019)

مصطلحات موضوعية: dilated cardiomyopathy, titin, natural history

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10081392/1/Manuscript%20Mortality%20Risk%20TTNtv%20submitted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10081392Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10081392/1/Manuscript%20Mortality%20Risk%20TTNtv%20submitted.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10081392Test/

المؤلفون: Cheng, H, Dharmadhikari, AV, Varland, S, Ma, N, Domingo, D, Kleyner, R, Rope, AF, Yoon, M, Stray-Pedersen, A, Posey, JE, Crews, SR, Eldomery, MK, Akdemir, ZC, Lewis, AM, Sutton, VR, Rosenfeld, JA, Conboy, E, Agre, K, Xia, F, Walkiewicz, M, Longoni, M, High, FA, van Slegtenhorst, MA, Mancini, GMS, Finnila, CR, van Haeringen, A, den Hollander, N, Ruivenkamp, C, Naidu, S, Mahida, S, Palmer, EE, Murray, L, Lim, D, Jayakar, P, Parker, MJ, Giusto, S, Stracuzzi, E, Romano, C, Beighley, JS, Bernier, RA, Küry, S, Nizon, M, Corbett, MA, Shaw, M, Gardner, A, Barnett, C, Armstrong, R, Kassahn, KS, Van Dijck, A, Vandeweyer, G, Kleefstra, T, Schieving, J, Jongmans, MJ, de Vries, BBA, Pfundt, R, Kerr, B, Rojas, SK, Boycott, KM, Person, R, Willaert, R, Eichler, EE, Kooy, RF, Yang, Y, Wu, JC, Lupski, JR, Arnesen, T, Cooper, GM, Chung, WK, Gecz, J, Stessman, HAF, Meng, L, Lyon, GJ, Palmer, Elizabeth

المصدر: urn:ISSN:0002-9297 ; urn:ISSN:1537-6605 ; American Journal of Human Genetics, 102, 5, 985-994

مصطلحات موضوعية: Biotechnology, Genetics, Pediatric, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Clinical Research, Autism, Brain Disorders, Mental Health, Human Genome, 2.1 Biological and endogenous factors, 2 Aetiology, Abnormalities, Multiple, Adolescent, Adult, Autism Spectrum Disorder, Cell Line, Child, Exons, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genetic Variation, Humans, Intellectual Disability, Male, Middle Aged, Mutation, N-Terminal Acetyltransferase A

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_61912Test; https://unsworks.unsw.edu.au/bitstreams/28630ebc-7263-4783-bd7f-0782492d3e58/downloadTest; https://doi.org/10.1016/j.ajhg.2018.03.004Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.03.004Test
http://hdl.handle.net/1959.4/unsworks_61912Test
https://unsworks.unsw.edu.au/bitstreams/28630ebc-7263-4783-bd7f-0782492d3e58/downloadTest

المؤلفون: van Waning, JI, Caliskan, K, Hoedemaekers, YM, van Spaendonck-Zwarts, KY, Baas, AF, Boekholdt, SM, van Melle, JP, Teske, AJ, Asselbergs, FW, Backx, APCM, du Marchie Sarvaas, GJ, Dalinghaus, M, Breur, JMPJ, Linschoten, MPM, Verlooij, LA, Kardys, I, Dooijes, D, Deprez, RHL, IJpma, AS, van den Berg, MP, Hofstra, RMW, van Slegtenhorst, MA, Jongbloed, JDH, Majoor-Krakauer, D

المصدر: Journal of the American College of Cardiology , 71 (7) pp. 711-722. (2018)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, Genetics, Lvnc, Noncompaction Cardiomyopathy, Outcome, Prognosis, Left-Ventricular Noncompaction, Non-Compaction, Distinct Cardiomyopathy, Ejection Fraction, Classification, Myocardium, Mutations, Adults, Trabeculation, Association

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10053245/3/Asselbergs_Genetics%20and%20outcome%20in%20noncompaction_cardiomyopathy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10053245Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10053245/3/Asselbergs_Genetics%20and%20outcome%20in%20noncompaction_cardiomyopathy.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10053245Test/

المؤلفون: van der Linde, IHM, Hiemstra, YL, Bokenkamp, R, Mil, Annemieke, Breuning, MH, Ruivenkamp, C, ten Broeke, SW, Veldkamp, RF, Waning, Jaap, van Slegtenhorst, MA, Spaendonck-Zwarts, KY, Deprez, RHL, Herkert, JC, Boven, LA, van der Zwaag, PA, Jongbloed, JDH, Bootsma, M, Barge-Schaapveld, D

المصدر: van der Linde , IHM , Hiemstra , YL , Bokenkamp , R , Mil , A , Breuning , MH , Ruivenkamp , C , ten Broeke , SW , Veldkamp , RF , Waning , J , van Slegtenhorst , MA , Spaendonck-Zwarts , KY , Deprez , RHL , Herkert , JC , Boven , LA , van der Zwaag , PA , Jongbloed , JDH , Bootsma , M & Barge-Schaapveld , D 2017 , ' A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects ' , Netherlands ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s12471-017-1037-5Test
https://pure.eur.nl/en/publications/5386d4cd-896e-43dc-9acd-527f1d3cc1ddTest
https://pure.eur.nl/ws/files/47862470/REPUB_103326-OA.pdfTest
http://hdl.handle.net/1765/103326Test

المؤلفون: Velzen, Hannah, Schinkel, Arend, Baart, Sara, Oldenburg, Rogier, Mulder, Ingrid, van Slegtenhorst, MA, Michels, Michelle

المصدر: Velzen , H , Schinkel , A , Baart , S , Oldenburg , R , Mulder , I , van Slegtenhorst , MA & Michels , M 2018 , ' Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy ' , Circulation-Genomic and Precision Medicine , vol. 11 , no. 4 , UNSP e001896 . https://doi.org/10.1161/circgen.117.001896Test

الإتاحة: https://doi.org/10.1161/circgen.117.001896Test
https://pure.eur.nl/en/publications/a04f02f2-3cc7-4c35-9dee-5cc3ec613dddTest
http://hdl.handle.net/1765/114263Test

المؤلفون: Verhagen, JMA, van den Born, M, Kurul, S, Asimaki, A, van de Laar, IMBH, Frohn-Mulder, IME, Kammeraad, JAE, Yap, SC, Bartelings, MM, van Slegtenhorst, MA, von der Thüsen, JH, Wessels, MW

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110510/6/clinical-letter_homozygous_PKP2_in_HLHS_v14-11-2018%20final%20version.docxTest; https://openaccess.sgul.ac.uk/id/eprint/110510/8/P0010585_Verhagen%20Judith.tifTest; Verhagen, JMA; van den Born, M; Kurul, S; Asimaki, A; van de Laar, IMBH; Frohn-Mulder, IME; Kammeraad, JAE; Yap, SC; Bartelings, MM; van Slegtenhorst, MA; et al. Verhagen, JMA; van den Born, M; Kurul, S; Asimaki, A; van de Laar, IMBH; Frohn-Mulder, IME; Kammeraad, JAE; Yap, SC; Bartelings, MM; van Slegtenhorst, MA; von der Thüsen, JH; Wessels, MW (2018) Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome. Circ Genom Precis Med, 11 (12). e002397. ISSN 2574-8300 https://doi.org/10.1161/CIRCGEN.118.002397Test SGUL Authors: Asimaki, Angeliki

الإتاحة: https://doi.org/10.1161/CIRCGEN.118.002397Test
https://openaccess.sgul.ac.uk/id/eprint/110510Test/
https://openaccess.sgul.ac.uk/id/eprint/110510/6/clinical-letter_homozygous_PKP2_in_HLHS_v14-11-2018%20final%20version.docxTest
https://openaccess.sgul.ac.uk/id/eprint/110510/8/P0010585_Verhagen%20Judith.tifTest

المؤلفون: Velzen, Hannah, Schinkel, Arend, Oldenburg, Rogier, van Slegtenhorst, MA, Mulder, Ingrid, Velden, J, Michels, Michelle

المصدر: Velzen , H , Schinkel , A , Oldenburg , R , van Slegtenhorst , MA , Mulder , I , Velden , J & Michels , M 2017 , ' Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation ' , Circulation-cardiovascular genetics , vol. 10 , no. 4 , UNSP e001660 . https://doi.org/10.1161/circgenetics.116.001660Test

الإتاحة: https://doi.org/10.1161/circgenetics.116.001660Test
https://pure.eur.nl/en/publications/0a4a3520-9aa0-414c-9ee6-331f2505f674Test
http://hdl.handle.net/1765/101871Test