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1Academic Journal
المؤلفون: Poulton, Joanna, Steffann, Julie, Burgstaller, Joerg, McFarland, Robert, Arbeithuber, B., Bengoa, J., Burgstaller, J., Chan, S., Chiaratti, M., Crouch, M., Dimond, R., Enriques, J. A., Gorman, G., Hyslop, L., Johnston, I., Kitto, J., Maguire, A., Mitalipov, S., Otterloo, Van, Poulton, J., Sallevelt, S., Smeets, H., Spits, C., St John, J., Steffann, J., Stewart, J., Stoneking, M., Thorburn, D., van der Veer, E., Wells, D.
المصدر: Poulton , J , Steffann , J , Burgstaller , J , McFarland , R , Arbeithuber , B , Bengoa , J , Burgstaller , J , Chan , S , Chiaratti , M , Crouch , M , Dimond , R , Enriques , J A , Gorman , G , Hyslop , L , Johnston , I , Kitto , J , Maguire , A , Mitalipov , S , Otterloo , V , Poulton , J , Sallevelt , S , Smeets , H , Spits , C , St John , J , Steffann ....
مصطلحات موضوعية: PREIMPLANTATION GENETIC DIAGNOSIS, MITOCHONDRIAL-DNA DISORDERS, HUMAN OOCYTES, MUTATIONS, SEGREGATION, PGD, TRANSMISSION, BOTTLENECK, HETEROPLASMY, REPLACEMENT
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2Academic Journal
المؤلفون: Theunissen, T E J, Nguyen, M, Kamps, R, Hendrickx, AT, Sallevelt, S, Gottschalk, RWH, Calis, CM, Stassen, APM, Koning, BAE, Mulder-Den Hartog, E N M, Schoonderwoerd, Kees, Fuchs, SA, Hilhorst-Hofstee, Y, Visser, M, Vanoevelen, J, Szklarczyk, R, Gerards, M, de Coo, IFM, Hellebrekers, D, Smeets, HJM
المصدر: Theunissen , T E J , Nguyen , M , Kamps , R , Hendrickx , AT , Sallevelt , S , Gottschalk , RWH , Calis , CM , Stassen , APM , Koning , BAE , Mulder-Den Hartog , E N M , Schoonderwoerd , K , Fuchs , SA , Hilhorst-Hofstee , Y , Visser , M , Vanoevelen , J , Szklarczyk , R , Gerards , M , de Coo , IFM , Hellebrekers , D & Smeets , HJM 2018 , ' Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Haast, RAM, Ivanov, D, IJsselstein, RJT, Sallevelt, S, Jansen, JFA, Smeets, HJM, Coo, IFM, Formisano, E, Uludag, K
المصدر: Haast , RAM , Ivanov , D , IJsselstein , RJT , Sallevelt , S , Jansen , JFA , Smeets , HJM , Coo , IFM , Formisano , E & Uludag , K 2018 , ' Anatomic & metabolic brain markers of the m.3243A > G mutation: A multi-parametric 7T MRI study ' , NeuroImage: Clinical , vol. 18 , pp. 231-244 . https://doi.org/10.1016/j.nicl.2018.01.017
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Haer-Wigman, L, van Zelst-Stams, W A G, Pfundt, R, van den Born, LI, Klaver, Caroline, Verheij, J, Hoyng, CB, Breuning, MH, Boon, CJF, Kievit, Anneke, Verhoeven, Virginie, Pott, JWR, Sallevelt, S, van Hagen, JM, Plomp, AS, Kroes, HY, Lelieveld, SH, Hehir-Kwa, JY, Castelein, S, Nelen, M, Scheffer, H, Lugtenberg, D, Cremers, FPM, Hoefsloot, EH, Yntema, HG
المصدر: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , LI , Klaver , C , Verheij , J , Hoyng , CB , Breuning , MH , Boon , CJF , Kievit , A , Verhoeven , V , Pott , JWR , Sallevelt , S , van Hagen , JM , Plomp , AS , Kroes , HY , Lelieveld , SH , Hehir-Kwa , JY , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , FPM , Hoefsloot ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Theunissen, T E J, Gerards, M, Hellebrekers, D, van Tienen, FH, Kamps, R, Sallevelt, S, Hartog, E, Scholte, Jasper, Verdijk, Rob, Schoonderwoerd, Kees, Coo, IFM, Szklarczyk, R, Smeets, HJM
المصدر: Theunissen , T E J , Gerards , M , Hellebrekers , D , van Tienen , FH , Kamps , R , Sallevelt , S , Hartog , E , Scholte , J , Verdijk , R , Schoonderwoerd , K , Coo , IFM , Szklarczyk , R & Smeets , HJM 2017 , ' Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect ' , Frontiers in Molecular Neuroscience , vol. 10 , 336 . https://doi.org/10.3389/fnmol.2017.00336
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Sallevelt, S., Stegmann, A.P.A., Koning, B. de, Velter, C., Steyls, A., Esch, M. van der, Lakeman, P., Yntema, H.G., Esteki, M.Z., Die-Smulders, C.E. de, Gilissen, C.F.H.A., Wijngaard, A. van den, Brunner, H.G., Paulussen, A.D.
المصدر: Genetics in Medicine, 23, 6, pp. 1125-1136
مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/237150/237150.pdf; https://repository.ubn.ru.nl/handle/2066/237150; https://doi.org/10.1038/s41436-021-01116-x
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7Academic Journal
المؤلفون: Deden, A.C., Neveling, K., Zafeiropopoulou, D., Gilissen, C., Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Faas, B.H., Gardeitchik, T., Sallevelt, S., Paulussen, A., Stevens, S.J.C., Sikkel, E., Elting, M.W., Maarle, M.C. van, Diderich, K.E.M., Corsten-Janssen, N., Lichtenbelt, K.D., Lachmeijer, G., Vissers, L.E.L.M., Yntema, H.G., Nelen, M.R., Feenstra, I., Zelst-Stams, W.A.G. van
المصدر: Prenatal Diagnosis, 40, 8, pp. 972-983
مصطلحات موضوعية: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/225140/225140.pdf; https://hdl.handle.net/2066/225140; https://doi.org/10.1002/pd.5717
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8Academic Journal
المؤلفون: Westra, D., Schouten, M.I., Stunnenberg, B.C., Kusters, B., Saris, C.G.J., Erasmus, C.E., Engelen, B.G.M. van, Bulk, S., Verschuuren-Bemelmans, C.C., Gerkes, E.H., Geus, C. de, Zwaag, P.A. van der, Chan, S., Chung, B., Barge-Schaapveld, D., Kriek, M., Sznajer, Y., Spaendonck-Zwarts, K.Y. van, Kooi, A.J. van der, Krause, A., Schonewolf-Greulich, B., Die-Smulders, C.E. de, Sallevelt, S., Krapels, I.P.C., Rasmussen, M., Maystadt, I., Kievit, A.J., Witting, N., Pennings, M., Meijer, R.I., Gillissen, C., Kamsteeg, E.J., Voermans, N.C.
المصدر: Journal of Neuromuscular Diseases, 6, 2, pp. 241-258
مصطلحات موضوعية: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience, Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Relation: http://hdl.handle.net/2066/204157
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9Academic Journal
المؤلفون: Sallevelt S. C. E. H., Dreesen J. C. F. M., Drusedau M., Hellebrekers D. M. E. I., Paulussen A. D. C., Coonen E., Van Golde R. J. T., Geraedts J. P. M., Gianaroli L., Magli M. C., Zeviani M., Smeets H. J. M., De Die-Smulders C. E. M.
المساهمون: Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drusedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., Van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J. M., De Die-Smulders, C. E. M.
مصطلحات موضوعية: Leigh syndrome, Mitochondrial DNA (mtDNA) mutation, MT-ND6, PGD, T14487C, DNA, Mitochondrial, Female, Human, Infant, Newborn, Leigh Disease, Male, Mitochondria, Pedigree, Pregnancy, Preimplantation Diagnosi, Treatment Outcome, Mutation
Relation: info:eu-repo/semantics/altIdentifier/pmid/28122886; info:eu-repo/semantics/altIdentifier/wos/WOS:000398060700025; volume:32; issue:3; firstpage:698; lastpage:703; numberofpages:6; journal:HUMAN REPRODUCTION; http://hdl.handle.net/11577/3354181; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85019842681
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10Academic Journal
المؤلفون: Kamps, R, Szklarczyk, R, Theunissen, TE, Hellebrekers, D, Sallevelt, S, Boesten, IB, Koning, BAE, Bosch, BJ, Salomons, GS, Simas-Mendes, M, Verdijk, Rob, Schoonderwoerd, Kees, Coo, IFM, Vanoevelen, JM, Smeets, HJM
المصدر: Kamps , R , Szklarczyk , R , Theunissen , TE , Hellebrekers , D , Sallevelt , S , Boesten , IB , Koning , BAE , Bosch , BJ , Salomons , GS , Simas-Mendes , M , Verdijk , R , Schoonderwoerd , K , Coo , IFM , Vanoevelen , JM & Smeets , HJM 2018 , ' Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease ' , European Journal of Human Genetics , vol. 26 , no. 4 , pp. 537-551 . https://doi.org/10.1038/s41431-017-0058-2
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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11Book
المؤلفون: Sallevelt, S, Dreesen, JCFM, Coo, IFM, de Die-Smulders, CEM
المساهمون: Scott Sills, E
المصدر: Sallevelt , S , Dreesen , JCFM , Coo , IFM & de Die-Smulders , CEM 2016 , Selecting the right embryo in mitochondrial disorders . in E Scott Sills (ed.) , Screening the Euploid embryo . Springer-Verlag , chapter 17 .
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12Academic Journal
المؤلفون: Hellebrekers, DM, Sallevelt, S, Theunissen, T E J, Hendrickx, ATM, Gottschalk, RW, Hoeijmakers, JGJ (Janneke), Habets, DD, Bierau, J, Schoonderwoerd, Kees, Smeets, HJM
المصدر: Hellebrekers , DM , Sallevelt , S , Theunissen , T E J , Hendrickx , ATM , Gottschalk , RW , Hoeijmakers , JGJ , Habets , DD , Bierau , J , Schoonderwoerd , K & Smeets , HJM 2017 , ' Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype ' , European Journal of Human Genetics , vol. 25 , no. 7 , pp. 886-888 . https://doi.org/10.1038/ejhg.2017.62
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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13Academic Journal
المؤلفون: Sallevelt, S, de Die-Smulders, CEM, Hendrickx, ATM, Hellebrekers, D, Coo, IFM, Alston, CL, Knowles, C, Taylor, RW, McFarland, R, Smeets, HJM
المصدر: Sallevelt , S , de Die-Smulders , CEM , Hendrickx , ATM , Hellebrekers , D , Coo , IFM , Alston , CL , Knowles , C , Taylor , RW , McFarland , R & Smeets , HJM 2017 , ' De novo mtDNA point mutations are common and have a low recurrence risk ' , Journal of Medical Genetics , vol. 54 , no. 2 , pp. 114-124 . https://doi.org/10.1136/jmedgenet-2016-103876
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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14Academic Journal
المؤلفون: Theunissen, T E J, Sallevelt, S, Hellebrekers, D, de Koning, B, Hendrickx, ATM, van den Bosch, BJC, Kamps, R, Schoonderwoerd, Kees, Szklarczyk, R, den Hartog, NM (Elvira), Coo, IFM, Smeets, HJM
المصدر: Theunissen , T E J , Sallevelt , S , Hellebrekers , D , de Koning , B , Hendrickx , ATM , van den Bosch , BJC , Kamps , R , Schoonderwoerd , K , Szklarczyk , R , den Hartog , NM , Coo , IFM & Smeets , HJM 2017 , ' Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing ' , Journal of Pediatrics , vol. 182 , pp. 371-374 . https://doi.org/10.1016/j.jpeds.2016.12.032
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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15Book
المؤلفون: Sallevelt, S, Dreesen, JCFM, Coo, IFM, de Die-Smulders, CEM
المساهمون: Sills, E.S.
المصدر: Sallevelt , S , Dreesen , JCFM , Coo , IFM & de Die-Smulders , CEM 2015 , Selecting the right embryo in mitochondrial disorders . in E S Sills (ed.) , Screening the Euploid embryo . Springer-Verlag , pp. 17 .
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16
المؤلفون: Wilson, I. J., Carling, P. J., Alston, C. L., Floros, V. I., Pyle, A., Hudson, G., Sallevelt, S. C. E. H., Lamperti, C., Carelli, V., Bindoff, L. A., Samuels, D. C., Wonnapinij, P., Zeviani, M., Taylor, R. W., Smeets, H. J. M., Horvath, R., Chinnery, P. F.
المساهمون: Promovendi CD, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), RS: FHML MaCSBio, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), RS: CARIM - R2.10 - Mitochondrial disease, Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F., Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository
المصدر: Human Molecular Genetics, 25(5), 1031-1041. Oxford University Press
Human Molecular Geneticsمصطلحات موضوعية: Mitochondrial Diseases, Publication Bia, Inheritance Patterns, DNA, Mitochondrial, Genetic, Models, Mitochondrial Disease, Humans, Point Mutation, Bayes Theorem, Child, Female, Pedigree, Phenotype, Polymorphism, Restriction Fragment Length, Publication Bias, Models, Genetic, Polymorphism, Molecular Biology, Genetics (clinical), Inheritance Pattern, Association Studies Articles, DNA, Mitochondrial, Restriction Fragment Length, Human
وصف الملف: STAMPA; application/pdf
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17Academic Journal
المؤلفون: Witters, I., Konings, M., Coumans, A., Sallevelt, S., Robben, S., Pieters, M., de Die, C.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 48, issue S1, page 175-175 ; ISSN 0960-7692 1469-0705
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18Academic Journal
المؤلفون: Meuwissen, M.E.C., Halley, D.J.J., Smit, L.S., Lequin, M.H., Cobben, J.M., de Coo, R., van Harssel, J., Sallevelt, S., Woldringh, G., van der Knaap, M.S., de Vries, L.S., Mancini, G.M.S.
المصدر: Meuwissen , M E C , Halley , D J J , Smit , L S , Lequin , M H , Cobben , J M , de Coo , R , van Harssel , J , Sallevelt , S , Woldringh , G , van der Knaap , M S , de Vries , L S & Mancini , G M S 2015 , ' The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature ' , Genetics in Medicine , vol. 17 , no. 11 , ....
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19Academic Journal
المؤلفون: Vreeburg, M., Sallevelt, S. C. E. H., Stegmann, A. P. A., van Geel, M., Detisch, Y. J. H. A., Schrander-Stumpel, C. T. R. M., van Steensel, M. A. M., Marcus-Soekarman, D.
المصدر: Vreeburg , M , Sallevelt , S C E H , Stegmann , A P A , van Geel , M , Detisch , Y J H A , Schrander-Stumpel , C T R M , van Steensel , M A M & Marcus-Soekarman , D 2014 , ' Cutaneous clues for diagnosing X-chromosomal disorders ' , Clinical Genetics , vol. 85 , no. 4 , pp. 328-335 . https://doi.org/10.1111/cge.12162
مصطلحات موضوعية: Genodermatology, Mosaicism, Multidisciplinary, Review, X chromosome, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical), /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2700, name=General Medicine
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20Academic Journal
المؤلفون: Derks-Smeets, I. A. P., Verpoest, W., Mackens, S., Verdyck, P., Verheyen, G., Paulussen, A., Dreesen, J., Van Golde, R., Tjan-Heijnen, V. C. G., Meijer-Hoogeveen, M., Gomez Garcia, E. B., De Greve, J., Bonduelle, M., De Die-Smulders, C. E. M., De Rycke, M., Rubio, C., Rodrigo, L., Bellver, J., Peinado, L., Buendia, P., Vidal, C., Giles, J., Domingo, J., Remohi, J., Pellicer, A., Simon, C., Sallevelt, S., de Die-Smulders, C., Drusedau, M., Spierts, S., Coonen, E., van Golde, R., Geraedts, J., Smeets, H., Mateu, E., Mir, P., Campos, I., Escrich, L., Vera, M.
المصدر: Human Reproduction ; volume 27, issue suppl 2, page ii74-ii76 ; ISSN 0268-1161 1460-2350
مصطلحات موضوعية: Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine