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1Academic Journal
المؤلفون: Peelen, T, vanVliet, M, PetrijBosch, A, Mieremet, R, Szabo, C, van den Ouweland, AMW, Hogervorst, F, Brohet, R, Ligtenberg, MJL, Teugels, E, vanderLuijt, R, van der Hout, AH, Gille, JJP, Pals, G, Jedema, I, Olmer, R, van Leeuwen, I, Newman, B, Plandsoen, M, vanderEst, M, Brink, G, Hageman, S, Arts, PJW, Bakker, MM, Willems, HW, vanderLooij, E, Neyns, B, Bonduelle, M, Jansen, R, Oosterwijk, JC, Sijmons, R, Smeets, HJM, van Asperen, CJ, MeijersHeijboer, H, Klijn, JGM, deGreve, J, King, MC, Menko, FH, Brunner, HG, Halley, D, vanOmmen, GJB, Vasen, HFA, Cornelisse, CJ, vantVeer, LJ, deKnijff, P, Bakker, E, Devilee, P
المصدر: Peelen , T , vanVliet , M , PetrijBosch , A , Mieremet , R , Szabo , C , van den Ouweland , AMW , Hogervorst , F , Brohet , R , Ligtenberg , MJL , Teugels , E , vanderLuijt , R , van der Hout , AH , Gille , JJP , Pals , G , Jedema , I , Olmer , R , van Leeuwen , I , Newman , B , Plandsoen , M , vanderEst , M , Brink , G , Hageman , S , Arts , PJW , Bakker , ....
مصطلحات موضوعية: PROTEIN TRUNCATION TEST, SUSCEPTIBILITY GENE, GERMLINE MUTATIONS, RAPID DETECTION, DNA, FREQUENCY, CARRIERS, 185DELAG, LINKAGE
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2Academic Journal
المؤلفون: vanEssen, AJ, Kneppers, ALJ, vanderHout, AH, Scheffer, H, Ginjaar, IB, tenKate, LP, vanOmmen, GJB, Buys, CHCM, Bakker, E
المصدر: vanEssen , AJ , Kneppers , ALJ , vanderHout , AH , Scheffer , H , Ginjaar , IB , tenKate , LP , vanOmmen , GJB , Buys , CHCM & Bakker , E 1997 , ' The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy : An updated protocol ' , Journal of Medical Genetics , vol. 34 , no. 10 , pp. 805-812 .
مصطلحات موضوعية: Duchenne muscular dystrophy, laboratory diagnosis, carrier state, mutation, STRAND CONFORMATION POLYMORPHISM, PROTEIN TRUNCATION TEST, GRADIENT GEL-ELECTROPHORESIS, FETAL MUSCLE BIOPSY, TRANSLATION-TERMINATING MUTATIONS, IN-SITU HYBRIDIZATION, PRENATAL-DIAGNOSIS, DMD-GENE, GERMINAL MOSAICISM, POINT MUTATIONS
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3Academic Journal
المؤلفون: Oosterwijk, JC, Richard, G, vanderWielen, MJR, van de Vosse, E, Harth, W, Sandkuijl, LA, Bakker, E, vanOmmen, GJB
المصدر: Oosterwijk , JC , Richard , G , vanderWielen , MJR , van de Vosse , E , Harth , W , Sandkuijl , LA , Bakker , E & vanOmmen , GJB 1997 , ' Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans : refinement of gene localization and evidence for genetic heterogeneity ' , HUMAN GENETICS , vol. 100 , no. 5-6 , pp. 520-524 .
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4Academic Journal
المؤلفون: vanderSteege, G, Grootscholten, PM, Cobben, JM, Zappata, S, Scheffer, H, denDunnen, JT, vanOmmen, GJB, Brahe, C, Buys, CHCM
المصدر: vanderSteege , G , Grootscholten , PM , Cobben , JM , Zappata , S , Scheffer , H , denDunnen , JT , vanOmmen , GJB , Brahe , C & Buys , CHCM 1996 , ' Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5 ' , American Journal of Human Genetics , vol. 59 , no. 4 , pp. 834-838 .
مصطلحات موضوعية: GERMANY WEST-THURINGEN, MOTOR-NEURON GENE, DELETIONS, DISEASE, 5Q13, ASSOCIATION, INDIVIDUALS, DIAGNOSIS, SEVERITY
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5Academic Journal
المؤلفون: van de Vosse, E, Bergen, AAB, Meershoek, EJ, Oosterwijk, JC, Gregory, S, Bakker, B, Weissenbach, J, Coffey, AJ, vanOmmen, GJB, DenDunnen, JT
المصدر: van de Vosse , E , Bergen , AAB , Meershoek , EJ , Oosterwijk , JC , Gregory , S , Bakker , B , Weissenbach , J , Coffey , AJ , vanOmmen , GJB & DenDunnen , JT 1996 , ' An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15 : Refined localization of RS ' , European Journal of Human Genetics , vol. 4 , no. 2 , pp. 101-104 .
مصطلحات موضوعية: retinoschisis, Xp22, Contig, YEAST ARTIFICIAL CHROMOSOMES, HUMAN GENOME, CONSTRUCTION, LIBRARY
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6Academic Journal
المؤلفون: Oosterwijk, JC, Mesker, WE, Ouwerkerk, MCM, Knepfle, CFHM, vanderBurg, MJM, Wiesmeijer, CC, Beverstock, GC, Losekoot, M, Bernini, LF, vanOmmen, GJB, vandeKamp, JJP, Kanhai, HHH, Tanke, HJ
المصدر: Oosterwijk , JC , Mesker , WE , Ouwerkerk , MCM , Knepfle , CFHM , vanderBurg , MJM , Wiesmeijer , CC , Beverstock , GC , Losekoot , M , Bernini , LF , vanOmmen , GJB , vandeKamp , JJP , Kanhai , HHH & Tanke , HJ 1996 , ' Detection of fetal erythroblasts in maternal blood by onestep gradient enrichment and immunocytochemical recognition ' , Early Human Development , vol. 47 , pp. S95-S97 .
مصطلحات موضوعية: erythroblast, prenatal diagnosis, maternal blood, rare event detection, fetal cell, fetal hemoglobin
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7Academic Journal
المؤلفون: VANDERSTEEGE, G, DRAAIJERS, TG, GROOTSCHOLTEN, PM, OSINGA, J, ANZEVINO, R, VELONA, No Value, DENDUNNEN, JT, SCHEFFER, H, BRAHE, C, VANOMMEN, GJB, BUYS, CHCM
المصدر: VANDERSTEEGE , G , DRAAIJERS , TG , GROOTSCHOLTEN , PM , OSINGA , J , ANZEVINO , R , VELONA , N V , DENDUNNEN , JT , SCHEFFER , H , BRAHE , C , VANOMMEN , GJB & BUYS , CHCM 1995 , ' A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION ' , European Journal of Human Genetics , vol. 3 , no. 2 , pp. 87-95 .
مصطلحات موضوعية: SMA, CHROMOSOME 5, TRANSCRIPT MAP, GENE MAPPING, HUMAN BETA-GLUCURONIDASE, CELL-CYCLE, GENE, CONSTRUCTION, CDNA, LIBRARY, CLONING, CONTIG, CCNB1
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8Academic Journal
المؤلفون: DENDUNNEN, JT, VANDERWIELEN, MJR, VOORHOEVE, E, BAKKER, E, VANOMMEN, GJB, Oosterwijk, JC
المصدر: DENDUNNEN , JT , VANDERWIELEN , MJR , VOORHOEVE , E , BAKKER , E , VANOMMEN , GJB & Oosterwijk , JC 1994 , ' FINE MAPPING OF KERATOSIS SPINULOSA DECALVANS (KFSD) IN XP22 ' , Cytogenetics and cell genetics , vol. 67 , no. 4 , pp. 336-336 .
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9
المؤلفون: vanderKooi, AJ, Barth, PG, Busch, HFM, deHaan, R, Ginjaar, HB, vanEssen, AJ, vanHooff, LJMA, Howeler, CJ, Jennekens, FGI, Jongen, P, Oosterhuis, HJGH, Padberg, GWAM, Wintzen, AR, Wokke, JHJ, Bakker, E, vanOmmen, GJB, Bolhuis, PA, deVisser, M
المصدر: Brain, 119, 1471-1480. Oxford University Press
مصطلحات موضوعية: AUTOSOMAL DOMINANT INHERITANCE, MUTATIONS, prevalence, GLYCOPROTEIN, CHILDHOOD, ADHALIN DEFICIENCY, CONFIRMATION, BETA-SARCOGLYCAN, ONSET, LINKAGE, GENETIC-HETEROGENEITY, alpha-sarcoglycan, linkage analysis, limb girdle muscular dystrophy
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10Academic Journal
المؤلفون: BERGEN, AAB, Meire, Françoise, TENBRINK, J, SCHUURMAN, EJM, VANOMMEN, GJB, DELLEMAN, JW
المصدر: GENOMICS ; ISSN: 0888-7543
مصطلحات موضوعية: Medicine and Health Sciences
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11Academic Journal
المؤلفون: van Essen, A.J., ABBS, S, BAIGET, M, BAKKER, E, BOILEAU, C, VANBROECKHOVEN, C, BUSHBY, K, CLARKE, A, CLAUSTRES, M, COVONE, AE, FERRARI, M, FERLINI, A, GALLUZZI, G, GRIMM, T, GRUBBEN, C, JEANPIERRE, M, KAARIAINEN, H, LIECHTIGALLATI, S, MELIS, MA, VANOMMEN, GJB, PONCIN, JE, SCHEFFER, H, SCHWARTZ, M, SPEER, A, STUHRMANN, M, VERELLENDUMOULIN, C, WILCOX, DE, ten Kate, L.P.
المصدر: van Essen , A J , ABBS , S , BAIGET , M , BAKKER , E , BOILEAU , C , VANBROECKHOVEN , C , BUSHBY , K , CLARKE , A , CLAUSTRES , M , COVONE , AE , FERRARI , M , FERLINI , A , GALLUZZI , G , GRIMM , T , GRUBBEN , C , JEANPIERRE , M , KAARIAINEN , H , LIECHTIGALLATI , S , MELIS , MA , VANOMMEN , GJB , PONCIN , JE , SCHEFFER , H , SCHWARTZ , M , SPEER , A , STUHRMANN ....
مصطلحات موضوعية: DUCHENNE MUSCULAR-DYSTROPHY, GERMINAL MOSAICISM, PRENATAL-DIAGNOSIS, SOMATIC MOSAICISM, CARRIER DETECTION, MUTATIONS, FAMILIES, MUTANTS, CDNA, SEGREGATION
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12Academic Journal
المؤلفون: BLONDEN, LAJ, GROOTSCHOLTEN, PM, DENDUNNEN, JT, BAKKER, E, ABBS, S, BOBROW, M, BOEHM, C, VANBROECKHOVEN, C, BAUMBACH, L, CHAMBERLAIN, J, CASKEY, CT, DENTON, M, FELICETTI, L, GALLUZI, G, FISCHBECK, KH, FRANCKE, U, DARRAS, B, GILGENKRANTZ, H, KAPLAN, JC, HERRMANN, FH, JUNIEN, C, BOILEAU, C, LIECHTIGALLATI, S, LINDLOF, M, MATSUMOTO, T, NIIKAWA, N, MULLER, CR, PONCIN, J, MALCOLM, S, ROBERTSON, E, ROMEO, G, COVONE, AE, SCHEFFER, H, SCHRODER, E, SCHWARTZ, M, VERELLEN, C, WALKER, A, WORTON, R, GILLARD, E, VANOMMEN, GJB
المصدر: BLONDEN , LAJ , GROOTSCHOLTEN , PM , DENDUNNEN , JT , BAKKER , E , ABBS , S , BOBROW , M , BOEHM , C , VANBROECKHOVEN , C , BAUMBACH , L , CHAMBERLAIN , J , CASKEY , CT , DENTON , M , FELICETTI , L , GALLUZI , G , FISCHBECK , KH , FRANCKE , U , DARRAS , B , GILGENKRANTZ , H , KAPLAN , JC , HERRMANN , FH , JUNIEN , C , BOILEAU , C , LIECHTIGALLATI , S , LINDLOF , M , MATSUMOTO , T ....
مصطلحات موضوعية: DUCHENNE MUSCULAR-DYSTROPHY, CDNA, RECOMBINATION, MUTATIONS, SEQUENCE, REGIONS, CLUSTER, ORIGIN, SITES, CELLS
الاتاحة: http://hdl.handle.net/11370/fa41c610-273c-430a-a678-f180d31bdce6
https://research.rug.nl/en/publications/242-breakpoints-in-the-200kb-deletionprone-p20region-of-the-dmd-gene-are-widely-spread(fa41c610-273c-430a-a678-f180d31bdce6).html -
13Academic Journal
المؤلفون: ARNBERG, AC, VANOMMEN, GJB, GRIVELL, LA, VANBRUGGEN, EFJ, BORST, P
المصدر: ARNBERG , AC , VANOMMEN , GJB , GRIVELL , LA , VANBRUGGEN , EFJ & BORST , P 1980 , ' SOME YEAST MITOCHONDRIAL RNAS ARE CIRCULAR ' , Cell , vol. 19 , no. 2 , pp. 313-319 .
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14Academic Journal
المؤلفون: VANOMMEN, GJB, MERCKEN, LOY, ARNBERG, AC, BAAS, F, DEVIJLDER, JJM
المصدر: VANOMMEN , GJB , MERCKEN , LOY , ARNBERG , AC , BAAS , F & DEVIJLDER , JJM 1989 , ' STUDIES ON THE STRUCTURES OF THE NORMAL AND ABNORMAL GOAT THYROGLOBULIN GENES ' , BIOCHIMIE , vol. 71 , no. 2 , pp. 211-221 . ; ISSN:0300-9084
الاتاحة: http://hdl.handle.net/11370/2af3e99c-0366-417f-9712-dc9bb89ff15a
https://research.rug.nl/en/publications/studies-on-the-structures-of-the-normal-and-abnormal-goat-thyroglobulin-genes(2af3e99c-0366-417f-9712-dc9bb89ff15a).html -
15Academic Journal
المؤلفون: BAAS, F, VANOMMEN, GJB, BIKKER, H, ARNBERG, AC, DEVIJLDER, JJM
المصدر: BAAS , F , VANOMMEN , GJB , BIKKER , H , ARNBERG , AC & DEVIJLDER , JJM 1986 , ' THE HUMAN THYROGLOBULIN GENE IS OVER 300 KB LONG AND CONTAINS INTRONS OF UP TO 64 KB ' , Nucleic Acids Research , vol. 14 , no. 13 , pp. 5171-5186 . ; ISSN:0305-1048
الاتاحة: http://hdl.handle.net/11370/962323c5-1a05-4f60-a3f2-e97bcc01f805
https://research.rug.nl/en/publications/the-human-thyroglobulin-gene-is-over-300-kb-long-and-contains-introns-of-up-to-64-kb(962323c5-1a05-4f60-a3f2-e97bcc01f805).html -
16Academic Journal
المؤلفون: HENSGENS, LAM, ARNBERG, AC, ROOSENDAAL, E, VANDERHORST, G, VANDERVEEN, R, VANOMMEN, GJB, GRIVELL, LA
المصدر: HENSGENS , LAM , ARNBERG , AC , ROOSENDAAL , E , VANDERHORST , G , VANDERVEEN , R , VANOMMEN , GJB & GRIVELL , LA 1983 , ' VARIATION, TRANSCRIPTION AND CIRCULAR RNAS OF THE MITOCHONDRIAL GENE FOR SUBUNIT-I OF CYTOCHROME-C OXIDASE ' , Journal of Molecular Biology , vol. 164 , no. 1 , pp. 35-58 . ; ISSN:0022-2836
الاتاحة: http://hdl.handle.net/11370/9de29673-c854-41ef-805d-4e5e369a2f86
https://research.rug.nl/en/publications/variation-transcription-and-circular-rnas-of-the-mitochondrial-gene-for-subuniti-of-cytochromec-oxidase(9de29673-c854-41ef-805d-4e5e369a2f86).html -
17
المؤلفون: Dendunnen, Jt, Grootscholten, Pm, Bert Bakker, Blonden, Laj, Ginjaar, Hb, Wapenaar, Mc, Vanpaassen, Hmb, Vanbroeckhoven, C., Pearson, Pl, Vanommen, Gjb
المصدر: Publons
The American journal of human genetics
ResearcherIDمصطلحات موضوعية: Human medicine