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1Academic Journal
المؤلفون: He, B, Giedraitis, V, Ligers, A, Binzer, M, Andersen, PM, Forsgren, L, Sandkuijl, LA, Hillert, J
المصدر: European journal of human genetics : EJHG. 10(4):271-275
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Galjaard, RJH, Kostakoglu, N, Hoogeboom, JJM, Breedveld, GJ, van der Linde, HC, Hovius, SER, Oostra, BA, Sandkuijl, LA, Akarsu, AN, Heutink, P
المساهمون: Plastik, Rekonstrüktif ve Estetik Cerrahi
مصطلحات موضوعية: Biochemistry & Molecular Biology, Genetics & Heredity
وصف الملف: text/plain; application/pdf
Relation: European Journal Of Human Genetics; https://doi.org/10.1038/sj.ejhg.5200692; http://hdl.handle.net/11655/17114; 653; 658
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3Academic Journal
المؤلفون: Ausems, MGEM, Verbiest, J, Hermans, MMP, Kroos, MA, Beemer, FA, Wokke, JHJ, Sandkuijl, LA, Reuser, AJJ, van der Ploeg, AT
المصدر: European Journal of Human Genetics ; volume 7, issue 6, page 713-716 ; ISSN 1018-4813 1476-5438
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4Academic Journal
المؤلفون: Terwindt, GM, Ophoff, RA, Haan, Joost, Sandkuijl, LA, Frants, RR
المصدر: European Journal of Human Genetics ; volume 6, issue 4, page 297-307 ; ISSN 1018-4813 1476-5438
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5Academic Journal
المؤلفون: Wijmenga, C, Müller, T, Murli, IS, Brunt, T, Feichtinger, H, Schönitzer, D, Houwen, RHJ, Müller, W, Sandkuijl, LA, Pearson, PL
المصدر: European Journal of Human Genetics ; volume 6, issue 6, page 624-628 ; ISSN 1018-4813 1476-5438
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6Academic Journal
المؤلفون: Callenbach, PMC, van den Maagdenberg, AMJM, Hottenga, JJ, van den Boogerd, EH, de Coo, RFM, Lindhout, D, Frants, RR, Sandkuijl, LA, Brouwer, OF
المصدر: Callenbach , PMC , van den Maagdenberg , AMJM , Hottenga , JJ , van den Boogerd , EH , de Coo , RFM , Lindhout , D , Frants , RR , Sandkuijl , LA & Brouwer , OF 2003 , ' Familial partial epilepsy with variable foci in a Dutch family : Clinical characteristics and confirmation of linkage to chromosome 22q ' , Epilepsia , vol. 44 , no. 10 , pp. 1298-1305 .
مصطلحات موضوعية: FPEVF, ADNFLE, clinical characteristics, genetics, chromosome 22q, FRONTAL-LOBE EPILEPSY, DOMINANT PARTIAL EPILEPSY, LATERAL TEMPORAL EPILEPSY, AUDITORY FEATURES, ELECTROCLINICAL PICTURE, NORWEGIAN FAMILY, CHRNA4 GENE, MUTATION, LGI1, SUBUNIT
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7Academic Journal
المؤلفون: Bakker, SC, van der Meulen, EM, Buitelaar, JK, Sandkuijl, LA, Pauls, DL, Monsuur, AJ, van't Slot, R, Minderaa, RB, Gunning, WB, Pearson, PL, Sinke, RJ
المصدر: Bakker , SC , van der Meulen , EM , Buitelaar , JK , Sandkuijl , LA , Pauls , DL , Monsuur , AJ , van't Slot , R , Minderaa , RB , Gunning , WB , Pearson , PL & Sinke , RJ 2003 , ' A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder : Suggestive evidence for linkage on chromosomes 7p and 15q ' , American Journal of Human Genetics , vol. 72 , no. 5 , pp. 1251-1260 .
مصطلحات موضوعية: DEFICIT-HYPERACTIVITY DISORDER, DOPAMINE TRANSPORTER GENE, AUTISTIC DISORDER, RECEPTOR GENE, SUSCEPTIBILITY LOCI, READING-DISABILITY, BETA-HYDROXYLASE, ASSOCIATION, CHILDREN, ADHD
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8Academic Journal
المؤلفون: Hulsman, Caa, Willemse‐Assink, Jjm, De Jong, Ptvm, Lettink, M, Sandkuijl, La, Bergen, Aab
المصدر: Clinical Genetics ; volume 61, issue 2, page 160-162 ; ISSN 0009-9163 1399-0004
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9
المؤلفون: Callenbach, PMC, van den Maagdenberg, AMJM, Hottenga, JJ, van den Boogerd, EH, de Coo, RFM, Lindhout, D, Frants, RR, Sandkuijl, LA, Brouwer, OF
المساهمون: Epidemiology, Neurology, Clinical Genetics
المصدر: Epilepsia, 44, 1298-1305. Wiley-Blackwell Publishing Ltd
Epilepsia, 44(10), 1298-1305. Wileyمصطلحات موضوعية: NORWEGIAN FAMILY, ELECTROCLINICAL PICTURE, FPEVF, CHRNA4 GENE, LATERAL TEMPORAL EPILEPSY, chromosome 22q, SUBUNIT, DOMINANT PARTIAL EPILEPSY, ADNFLE, genetics, AUDITORY FEATURES, LGI1, clinical characteristics, MUTATION, FRONTAL-LOBE EPILEPSY
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10
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11Academic Journal
المؤلفون: Boehmer, ALM, Brinkmann, AO, Sandkuijl, LA, Halley, DJJ, Niermeijer, MF, Andersson, S, de Jong, FH, Kayserili, H, de Vroede, MA, Otten, BJ, Rouwe, CW, Mendonca, BB, Rodrigues, C, Bode, HH, de Ruiter, PE, Delemarre-van de Waal, HA, Drop, SLS
المصدر: Boehmer , ALM , Brinkmann , AO , Sandkuijl , LA , Halley , DJJ , Niermeijer , MF , Andersson , S , de Jong , FH , Kayserili , H , de Vroede , MA , Otten , BJ , Rouwe , CW , Mendonca , BB , Rodrigues , C , Bode , HH , de Ruiter , PE , Delemarre-van de Waal , HA & Drop , SLS 1999 , ' 17 beta-hydroxysteroid dehydrogenase-3 deficiency : Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations ' , Journal of Clinical ....
مصطلحات موضوعية: 17-KETOSTEROID REDUCTASE DEFICIENCY, MALE PSEUDOHERMAPHRODITISM, TESTICULAR FEMINIZATION, ANDROGEN INSENSITIVITY, MOLECULAR-GENETICS, ARABS
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12Academic Journal
المؤلفون: Service, SK, Lang, DWT, Freimer, NB, Sandkuijl, LA
المصدر: Service , SK , Lang , DWT , Freimer , NB & Sandkuijl , LA 1999 , ' Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations ' , American Journal of Human Genetics , vol. 64 , no. 6 , pp. 1728-1738 .
مصطلحات موضوعية: LIKELIHOOD, GENOME, HETEROGENEITY, CHOLESTASIS, SEGMENTS, DESCENT
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13Academic Journal
المؤلفون: de Ruiter, PE, Kayserili, H, Rodrigues, C, Bode, HH, Delemarre-van de Waal, HA, Drop, SLS, Boehmer, ALM, Brinkmann, AO, Sandkuijl, LA, Halley, DJJ, Niermeijer, MF, Andersson, S, de Jong, FH, de Vroede, MA, Otten, BJ, Rouwe, CW, Mendonca, BB
المساهمون: 124423
مصطلحات موضوعية: Endokrinoloji ve Metabolizma Hastalıkları, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Klinik Tıp (MED), Klinik Tıp, ENDOKRİNOLOJİ VE METABOLİZMA
Relation: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; Boehmer A., Brinkmann A., Sandkuijl L., Halley D., Niermeijer M., Andersson S., de Jong F., Kayserili H., de Vroede M., Otten B., et al., "17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.84, ss.4713-4721, 1999; vv_1032021; av_d968a8cd-3799-4cb0-9e94-a4a27ae05cef; http://hdl.handle.net/20.500.12627/143404; https://doi.org/10.1210/jc.84.12.4713; 84; 12; 4713; 4721
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14Academic Journal
المؤلفون: Escamilla, MA, McInnes, LA, Spesny, M, Reus, No Value, Service, SK, Shimayoshi, N, Tyler, DJ, Silva, S, Molina, J, Gallegos, A, Meza, L, Cruz, ML, Batki, S, Vinogradov, S, Neylan, T, Nguyen, JB, Fournier, E, Araya, C, Barondes, SH, Leon, P, Sandkuijl, LA, Freimer, NB
المصدر: Escamilla , MA , McInnes , LA , Spesny , M , Reus , N V , Service , SK , Shimayoshi , N , Tyler , DJ , Silva , S , Molina , J , Gallegos , A , Meza , L , Cruz , ML , Batki , S , Vinogradov , S , Neylan , T , Nguyen , JB , Fournier , E , Araya , C , Barondes , SH , Leon , P , Sandkuijl , LA & Freimer , NB 1999 , ' Assessing the feasibility of linkage disequilibrium methods for ....
مصطلحات موضوعية: COSTA-RICAN PEDIGREES, GENETIC DISSECTION, HUMAN GENOME, MAP, SUSCEPTIBILITY, POPULATIONS, SEGMENTS, MARKERS, ILLNESS, REGION
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15
المؤلفون: Boehmer, ALM, Brinkmann, AO, Sandkuijl, LA, Halley, DJJ, Niermeijer, MF, Andersson, S, de Jong, FH, Kayserili, H, de Vroede, MA, Otten, BJ, Rouwe, CW, Mendonca, BB, Rodrigues, C, Bode, HH, de Ruiter, PE, Delemarre-van de Waal, HA, Drop, SLS
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: Journal of Clinical Endocrinology and Metabolism, 84(12), 4713-4721. ENDOCRINE SOC
مصطلحات موضوعية: ANDROGEN INSENSITIVITY, ARABS, 17-KETOSTEROID REDUCTASE DEFICIENCY, MOLECULAR-GENETICS, TESTICULAR FEMINIZATION, MALE PSEUDOHERMAPHRODITISM
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16Academic 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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17Academic Journal
المؤلفون: Freimer, NB, Reus, No Value, Escamilla, MA, McInnes, LA, Spesny, M, Leon, P, Service, SK, Smith, LB, Silva, S, Rojas, E, Gallegos, A, Meza, L, Fournier, E, Baharloo, S, Blankenship, K, Tyler, DJ, Batki, S, Vinogradov, S, Weissenbach, J, Barondes, SH, Sandkuijl, LA
المصدر: Freimer , NB , Reus , N V , Escamilla , MA , McInnes , LA , Spesny , M , Leon , P , Service , SK , Smith , LB , Silva , S , Rojas , E , Gallegos , A , Meza , L , Fournier , E , Baharloo , S , Blankenship , K , Tyler , DJ , Batki , S , Vinogradov , S , Weissenbach , J , Barondes , SH & Sandkuijl , LA 1996 , ' Genetic mapping using haplotype, association and linkage methods suggests a locus for ....
مصطلحات موضوعية: X-CHROMOSOME MARKERS, ILLNESS, ALLELE
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18Academic Journal
المؤلفون: Levinson, DF, Wildenauer, DB, Schwab, SG, Albus, M, Hallmayer, J, Lerer, B, Maier, W, Blackwood, D, Muir, W, StClair, D, Morris, S, Moises, HW, Yang, L, Kristbjarnarson, H, Helgason, T, Wiese, C, Collier, DA, Holmans, P, Daniels, J, Rees, M, Asherson, P, Roberts, Q, Cardno, A, Arranz, MJ, Vallada, H, McGuffin, D, Owen, MJ, Pulver, AE, Antonarakis, SE, Babb, R, Blouin, JL, DeMarchi, N, Dombroski, B, Housman, D, Karayiorgou, M, Ott, J, Kasch, L, Kazazian, H, Lasseter, VK, Loetscher, E, Luebbert, H, Nestadt, G, Ton, C, Wolyniec, PS, Laurent, C, deChaldee, M, Thibaut, F, Jay, M, Samolyk, D, Petit, M, Campion, D, Mallet, J, Straub, RE, MacLean, CJ, Easter, SM, ONeill, FA, Walsh, D, Kendler, KS, Gejman, PV, Gershon, E, Badner, J, Beshah, E, Zhang, J, Riley, BP, Rajagopalan, S, MogudiCarter, M, Jenkins, T, Williamson, R, DeLisi, LE, Garner, C, Kelly, M, LeDuc, C, Cardon, L, Lichter, J, Harris, T, Loftus, J, Shields, G, Comasi, M, Vita, A, Smith, A, Dann, J, Joslyn, G, Gurling, H, Kalsi, G, Brynjolfsson, J, Curtis, D, Sigmundsson, T, Butler, R, Read, T, Murphy, P, Chen, ACH, Petursson, H, Byerley, B, Hoff, M, Holik, J, Coon, H, Nancarrow, DJ, Crowe, RR, Andreasen, N, Silverman, JM, Mohs, RC, Siever, LJ, Endicott, J, Sharpe, L, Lennon, DP, Hayward, NK, Sandkuijl, LA, Mowry, BJ, Aschauer, HN, Meszaros, K, Lenzinger, E, Fuchs, K, Heiden, AM, Kruglyak, L, Daly, MJ, Matise, TC
المصدر: Levinson , DF , Wildenauer , DB , Schwab , SG , Albus , M , Hallmayer , J , Lerer , B , Maier , W , Blackwood , D , Muir , W , StClair , D , Morris , S , Moises , HW , Yang , L , Kristbjarnarson , H , Helgason , T , Wiese , C , Collier , DA , Holmans , P , Daniels , J , Rees , M , Asherson , P , Roberts , Q , Cardno , A , Arranz , MJ , Vallada , H ....
مصطلحات موضوعية: schizophrenia, genetic linkage, collaboration, polymorphism, genotype, SIB-PAIR LINKAGE, GENOME-WIDE SEARCH, SUSCEPTIBILITY GENES, AFFECTIVE-DISORDERS, POTENTIAL LINKAGE, DNA MARKERS, HETEROGENEITY, RELATIVES, ILLNESS, LOCUS
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19Academic Journal
المؤلفون: McInnes, LA, Escamilla, MA, Service, SK, Reus, No Value, Leon, P, Silva, S, Rojas, E, Spesny, M, Baharloo, S, Blankenship, K, Peterson, A, Tyler, D, Shimayoshi, N, Tobey, C, Batki, S, Vinogradov, S, Meza, L, Gallegos, A, Fournier, E, Smith, LB, Barondes, SH, Sandkuijl, LA, Freimer, NB
المصدر: McInnes , LA , Escamilla , MA , Service , SK , Reus , N V , Leon , P , Silva , S , Rojas , E , Spesny , M , Baharloo , S , Blankenship , K , Peterson , A , Tyler , D , Shimayoshi , N , Tobey , C , Batki , S , Vinogradov , S , Meza , L , Gallegos , A , Fournier , E , Smith , LB , Barondes , SH , Sandkuijl , LA & Freimer , NB 1996 , ' A complete genome screen ....
مصطلحات موضوعية: MANIC-DEPRESSIVE ILLNESS, X-CHROMOSOME MARKERS, OLD ORDER AMISH, LINKAGE MAP, DIAGNOSTIC INTERVIEW, SUSCEPTIBILITY GENE, DNA MARKERS, LOCUS, ASSOCIATION, DISEASE
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20Academic Journal
المؤلفون: Escamilla, MA, Spesny, M, Reus, No Value, Gallegos, A, Meza, L, Molina, J, Sandkuijl, LA, Fournier, E, Leon, PE, Smith, LB, Freimer, NB
المصدر: Escamilla , MA , Spesny , M , Reus , N V , Gallegos , A , Meza , L , Molina , J , Sandkuijl , LA , Fournier , E , Leon , PE , Smith , LB & Freimer , NB 1996 , ' Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population ' , American Journal of Medical Genetics , vol. 67 , no. 3 , pp. 244-253 .
مصطلحات موضوعية: genetics, manic depression, bipolar, Costa Rica, psychiatry, DEPRESSIVE-ILLNESS, LOCUS, SCHIZOPHRENIA, DYSTROPHY, AGE
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