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1دورية أكاديمية
المؤلفون: Verdonschot, JAJ, Hellebrekers, DMEI, van Empel, VPM, Heijligers, M, de Munnik, S, Coonen, E, Dreesen, JCMF, van den Wijngaard, A, Brunner, HG, Esteki, MZ, Heymans, SRB, de Die-Smulders, CEM, Paulussen, ADC
المصدر: Circulation. Genomic and precision medicine. 17(2):e004416
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Verdonschot, JAJ, Vanhoutte, EK, Claes, GRF, van den Enden, ATJMH, Hoeijmakers, JGJ, Hellebrekers, DMEI, Haan, AD, Christiaans, I, Deprez, RHL, Boen, HM, Craenenbroeck, EMV, Loeys, BL, Hoedemaekers, YM, Marcelis, C, Kempers, M, Brusse, E, Waning, JI, Baas, AF, Dooijes, D, Asselbergs, FW, Barge-Schaapveld, DQCM, Koopman, P, Wijngaard, AVD, Heymans, SRB, Krapels, IPC, Brunner, HG
المصدر: Human Mutation (2020)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, cardiomyopathy, filamin, FLNC, genotype-phenotype correlation, myopathy, ACTIN-BINDING DOMAIN, FILAMIN-C, MYOFIBRILLAR MYOPATHY, HYPERTROPHIC CARDIOMYOPATHY, TRUNCATING VARIANTS, PROTEIN AGGREGATION, MUSCULAR-DYSTROPHY, HEART-FAILURE, CLASSIFICATION, IDENTIFICATION
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094770/1/humu.24004.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094770Test/
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3دورية أكاديمية
المؤلفون: Theunissen, T E J, Szklarczyk, R, Gerards, M, Hellebrekers, DMEI, den Hartog, NM (Elvira), Vanoevelen, J, Kamps, R, de Koning, B, Rutledge, S L, Schmitt-Mechelke, T, van Berkel, CGM, van der Knaap, MS, Coo, IFM, Smeets, HJM
المصدر: Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 . https://doi.org/10.3389/fneur.2016.00203Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3389/fneur.2016.00203Test
https://pure.eur.nl/en/publications/409e3450-9838-42fb-8489-ca121eb1ecc1Test
https://pure.eur.nl/ws/files/47724025/REPUB_94954.pdfTest
http://hdl.handle.net/1765/94954Test -
4دورية أكاديمية
المؤلفون: Stroeks, SLVM, Hellebrekers, DMEI, Claes, GRF, Tayal, U, Krapels, IPC, Vanhoutte, EK, Van den Wijngaard, A, Henkens, MTHM, Ware, JS, Heymans, SRB, Brunner, HG, Verdonschot, JAJ
المساهمون: Wellcome Trust, British Heart Foundation
المصدر: 2193 ; 2186
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, MEDICAL GENETICS, AMERICAN-COLLEGE, RECOMMENDATIONS, STATEMENT, UPDATE, Cardiomyopathy, Dilated, Genetic Testing, Genetic Variation, Genomics, Humans, Phenotype, 0604 Genetics, 1103 Clinical Sciences
العلاقة: Genetics in Medicine; http://hdl.handle.net/10044/1/95796Test; 107469/Z/15/Z; RE/18/4/34215
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5دورية أكاديمية
المؤلفون: Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW
المصدر: Neuromuscular Disorders, September 2019
وصف الملف: application/pdf
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6دورية أكاديمية
المؤلفون: Nguyen, M, Boesten, I, Hellebrekers, DMEI, Vanoevelen, J, Kamps, R, de Koning, B, Coo, IFM, Gerards, M, Smeets, HJM
المصدر: Nguyen , M , Boesten , I , Hellebrekers , DMEI , Vanoevelen , J , Kamps , R , de Koning , B , Coo , IFM , Gerards , M & Smeets , HJM 2016 , ' Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy ' , European Journal of Human Genetics , vol. 24 , no. 4 , pp. 619-622 . https://doi.org/10.1038/ejhg.2015.158Test
الإتاحة: https://doi.org/10.1038/ejhg.2015.158Test
https://pure.eur.nl/en/publications/1aed635b-2cee-42ed-aad3-4b324550a605Test -
7دورية أكاديمية
المؤلفون: Sallevelt SCEH, de Die-Smulders CEM, Hendrickx ATM, Hellebrekers DMEI, de Coo IFM, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJM
المصدر: Journal of Medical Genetics, July 22, 2016
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: van den Bosch, BJC, Gerards, M (Mike), Sluiter, Wim, Stegmann, APA, Jongen, ELC, Hellebrekers, DMEI, Oegema, Renske, Lambrichs, EH, Prokisch, H, Danhauser, K, Schoonderwoerd, Kees, Coo, IFM, Smeets, HJM
المصدر: van den Bosch , BJC , Gerards , M , Sluiter , W , Stegmann , APA , Jongen , ELC , Hellebrekers , DMEI , Oegema , R , Lambrichs , EH , Prokisch , H , Danhauser , K , Schoonderwoerd , K , Coo , IFM & Smeets , HJM 2012 , ' Defective NDUFA9 as a novel cause of neonatally fatal complex I disease ' , Journal of Medical Genetics , vol. 49 , no. 1 , pp. 10-15 . https://doi.org/10.1136/jmedgenet-2011-100466Test
الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100466Test
https://pure.eur.nl/en/publications/64d9e237-fcd3-4630-9d39-e131b40a6f2bTest
http://hdl.handle.net/1765/32003Test -
9دورية أكاديمية
المؤلفون: Hellebrekers, DMEI, Wolfe, R, Hendrickx, ATM, Coo, IFM, Die, Lya, Geraedts, JPM, Chinnery, PF, Smeets, HJM
المصدر: Hellebrekers , DMEI , Wolfe , R , Hendrickx , ATM , Coo , IFM , Die , L , Geraedts , JPM , Chinnery , PF & Smeets , HJM 2012 , ' PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring ' , Human Reproduction Update , vol. 18 , no. 4 , pp. 341-349 . https://doi.org/10.1093/humupd/dms008Test
الإتاحة: https://doi.org/10.1093/humupd/dms008Test
https://pure.eur.nl/en/publications/274c275d-0b6b-4eb9-a764-3bbd4b76321eTest
http://hdl.handle.net/1765/73519Test -
10دورية أكاديمية
المؤلفون: Dings, R. P. M., Chen, X. M., Hellebrekers, Dmei, van Eijk, L. I., Zhang, Y., Hoye, T. R., Griffioen, A. W., Mayo, K. H., 张颖
مصطلحات موضوعية: TEREPHTHALAMIDE DERIVATIVES, BETA-SHEET, MIMETICS, PEPTIDE, ANGIOGENESIS, ANGINEX, CANCER, INHIBITOR, THERAPY, POTENT
العلاقة: Journal of the National Cancer Institute,98(13):932-936; ISI:000238817800011; http://dspace.xmu.edu.cn/handle/2288/59336Test
النص الكامل