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1دورية أكاديمية
المؤلفون: van der Linde, I.H.M. (I. H.M.), Hiemstra, Y.L. (Y. L.), Bökenkamp, A. (Arend), Mil, A.M. (Anneke) van, Breuning, M.H. (Martijn), Ruivenkamp, C.A. (Claudia), Ten Broeke, S.W. (Sanne W.), Veldkamp, R.F. (Rolf), Waning, J. (Jaap) van, Slegtenhorst, M.A. (Marjon) van, Spaendonck-Zwarts, K.Y. (Karin) van, Lekanne Deprez, R.H., Herkert, J.C. (Johanna), Boven, L.G. (Ludolf), Zwaag, P.A. (Paul) van der, Jongbloed, J.D.H. (Jan), Bootsma, M. (Marianne), Barge-Schaapveld, D.Q.C.M. (Daniela)
المصدر: Netherlands Heart Journal vol. 25 no. 12, pp. 675-681
مصطلحات موضوعية: Beta myosin heavy chain 7, Cardiomyopathy, Congenital heart defect, Founder mutation
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/103326Test; urn:hdl:1765/103326
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2دورية أكاديمية
المؤلفون: Haer-Wigman, L. (Lonneke), Zelst-Stams, W.A. van, Pfundt, R. (Rolph), Born, L.I. (Ingeborgh) van den, Klaver, C.C.W. (Caroline), Verheij, J.B. (Joke), Hoyng, C.B. (Carel), Breuning, M.H. (Martijn), Boon, C.J.F. (Camiel), Kievit, A.J.A. (Anneke J.A.), Verhoeven, V.J.M. (Virginie), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Hagen, J.M. (Johanna) van, Plomp, A. (Astrid), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Hehir-Kwa, J. (Jayne), Castelein, S. (Steven), Nelen, M.R. (Marcel), Scheffer, H. (Hans), Lugtenberg, D. (Dorien), Cremers, F.P.M. (Frans), Hoefsloot, E.H. (Lies), Yntema, H.G.
المصدر: European Journal of Human Genetics vol. 25 no. 5, pp. 591-599
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/108180Test; urn:hdl:1765/108180
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3دورية أكاديمية
المؤلفون: Joustra, S.D. (Sjoerd), Schoenmakers, N. (Nadia), Persani, L. (Luca), Campi, I. (Irene), Bonomi, E. (Elisa), Radetti, G. (Giorgio), Beck-Peccoz, P. (Paolo), Zhu, H. (H.), Davis, T.M.E. (Timothy M.), Sun, Y. (Yu), Corssmit, E.P. (Eleonora), Appelman-Dijkstra, N.M. (Natasha), Heinen, C.A. (C.), Pereira, A.M. (Alberto), Varewijck, A.J. (Aimee), Janssen, J.A.M.J.L. (Joop), Endert, E. (Erik), Hennekam, R.C.M. (Raoul), Lombardi, M.P. (Paola), Mannens, M.M.A.M. (Marcel), Bak, B. (Beata), Bernard, D.J. (Daniel), Breuning, M.H. (Martijn), Chatterjee, K. (Krishna), Dattani, M.T. (Mehul), Oostdijk, W. (Wilma), Biermasz, N.R., Wit, J.M. (Jan), Trotsenburg, A.S.P. (Paul) van
المصدر: Journal of Clinical Endocrinology and Metabolism vol. 98 no. 12, pp. 4942-4952
العلاقة: http://repub.eur.nl/pub/67249Test; urn:hdl:1765/67249
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4دورية أكاديمية
المؤلفون: Duyvenvoorde, H.A., Lui, J., Kant, S.G., Oostdijk, W., Gijsbers, A.C.J., Karperien, H.B.J., Walenkamp, M.J.E., Noordam, C., Voorhoeve, P.G., Mericq, V., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A., Wit, J.M.
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Yiu K.H., Atsma D.E., Delgado V., Ng A.C.T., Witkowski T.G., Ewe S.H., Auger D., Holman E.R., van Mil A.M., Breuning M.H., Tse H.F., Bax J.J., Schalij M.J., Marsan N.A.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Unpaywall 20191101
مصطلحات موضوعية: angiotensin receptor antagonist, beta adrenergic receptor blocking agent, calcium channel blocking agent, dipeptidyl carboxypeptidase inhibitor, diuretic agent, myosin binding protein C, adult, article, calibration, cardiovascular risk, clinical article, controlled study, coronary artery disease, diabetes mellitus, electrocardiogram, female, gene mutation, heart ejection fraction, heart infarction, heart left ventricle, heart muscle, heart muscle revascularization, heart ventricle wall motion, heterozygote detection, human, hyperlipidemia, hypertension, hypertrophic cardiomyopathy, kidney dysfunction, male
العلاقة: Yiu K.H., Atsma D.E., Delgado V., Ng A.C.T., Witkowski T.G., Ewe S.H., Auger D., Holman E.R., van Mil A.M., Breuning M.H., Tse H.F., Bax J.J., Schalij M.J., Marsan N.A. (2012). Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers. PLoS ONE 7 (5) : e36115. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0036115Test; https://scholarbank.nus.edu.sg/handle/10635/161984Test
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6دورية أكاديمية
المؤلفون: Wagner, A. (Anja), Krimpen, C. (Cees) van, Morreau, H. (Hans), Hofstra, R.M.W. (Robert), Tops, C. (Carli), Cornelisse, C.J. (Cees), Zwinderman, A.H. (Ailko), Bik, E.C. (Elsa), Brocker-Vriends, A.H., Fodde, R. (Riccardo), Breuning, M.H. (Martijn), Meer, C.A. (Conny) van der, Vasen, H.F. (Hans), Niermeijer, M.F. (Martinus), Lindhout, D. (Dick), Hendriks, Y., Meijers-Heijboer, E.J. (Hanne), Wijnen, J.T. (Juul), Leeuw, W.J. de
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Adult, Age of Onset, Aged, 80 and over, Base Pair Mismatch/genetics, Carcinoma, Transitional Cell/epidemiology/genetics/pathology, Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology/*genetics/pathology, DNA Mutational Analysis, DNA Repair/genetics, DNA-Binding Proteins/*genetics, Diagnosis, Differential, Endometrial Neoplasms/epidemiology/genetics/pathology, Female, Frameshift Mutation/genetics, Genetic Predisposition to Disease/genetics, Genotype, Germ-Line Mutation/*genetics, Humans, Immunohistochemistry, Male, Microsatellite Repeats/genetics, Middle aged, Netherlands, Pedigree, Penetrance, Urologic Neoplasms/epidemiology/genetics/pathology
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/9633Test; urn:hdl:1765/9633
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7دورية أكاديمية
المؤلفون: van der Smagt, J.J., Beverstock, G.C., Breuning, M.H., Kanhai, H.H.H., Vandenbussche, F.P.H.A.
مصطلحات موضوعية: Letters to the Editor
وصف الملف: text/html
العلاقة: http://humrep.oxfordjournals.org/cgi/content/short/15/1/228Test; http://dx.doi.org/10.1093/humrep/15.1.228Test
الإتاحة: https://doi.org/10.1093/humrep/15.1.228Test
http://humrep.oxfordjournals.org/cgi/content/short/15/1/228Test -
8دورية أكاديمية
المؤلفون: Dauwerse, H.G. (Hans), Smit, E.M.E. (Elisabeth), Giles, R.H., Slater, R. (Rosalyn), Breuning, M.H. (Martijn), Hagemeijer, A. (Anne), Reijden, B.A. (Bert) van der
المصدر: British Journal of Haematology vol. 106 no. 1, pp. 111-114
مصطلحات موضوعية: AML, Diagnosis, inv(16)(p13q22), t(16, 16) (p13, q22), Two-colour FISH
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/72309Test; urn:hdl:1765/72309
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9دورية أكاديمية
المؤلفون: Brooks, A.S. (Alice), Breuning, M.H. (Martijn), Osinga, J. (Jan), Smagt, J.J. (Jasper) van der, Catsman-Berrevoets, C.E. (Coriene), Buys, C.H.C.M., Meijers, C. (Carel), Hofstra, R.M.W. (Robert)
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Amino Acid Substitution, Child, Preschool, Consanguinity, Female, Hirschsprung Disease/complications/*genetics, Humans, Infant, Newborn, Male, Mental Retardation/complications/*genetics, Microcephaly/complications/*genetics, Pedigree, Phenotype, Receptor, Endothelin B, Receptors, Endothelin/genetics, Research Support, Non-U.S. Gov't, Syndrome, Variation (Genetics)
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/9394Test; urn:hdl:1765/9394
الإتاحة: http://repub.eur.nl/pub/9394Test
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10دورية أكاديمية
المؤلفون: Kohlhase, J., Taschner, P.E.M., Burfeind, P., Pasche, B., Newman, Bill, Blanck, C., Breuning, M.H., Ten Kate, L.P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S.J., Pauli, R.M., Wargowski, D.S., Devriendt, K., Proesmans, W., Gabrielli, O., Coppa, G.V., Swaay, E.W.-V., Trembath, R.C., Schinzel, A.A., Reardon, W., Seemanova, E., Engel, W.
المصدر: Kohlhase , J , Taschner , P E M , Burfeind , P , Pasche , B , Newman , B , Blanck , C , Breuning , M H , Ten Kate , L P , Maaswinkel-Mooy , P , Mitulla , B , Seidel , J , Kirkpatrick , S J , Pauli , R M , Wargowski , D S , Devriendt , K , Proesmans , W , Gabrielli , O , Coppa , G V , Swaay , EW-V , Trembath , R C , Schinzel , A A , Reardon , W , ....
مصطلحات موضوعية: Townes-Brocks syndrome, SALL1 mutations, zinc finger, transcription factor, genotype-phenotype
الإتاحة: https://doi.org/10.1086/302238Test
https://research.manchester.ac.uk/en/publications/3638239f-f1ca-4510-876d-037f8eb8dacaTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033073849&partnerID=MN8TOARSTest
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