Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0054-6
S. Huisman, E. Redeker, R. Hennekam
{"title":"Testing for mosaicism in genetic entities - to swab or not to swab: in Cornelia de Lange syndrome no longer the question","authors":"S. Huisman, E. Redeker, R. Hennekam","doi":"10.1007/S12456-013-0054-6","DOIUrl":"https://doi.org/10.1007/S12456-013-0054-6","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"24 1","pages":"55"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78217890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0032-Z
A. W. Deutekom, M. Chin-A-Paw, T. Vrijkotte, M. Eijsden, R. Gemke
{"title":"Study protocol: The relation of birth weight and (accelerated) growth with physical activity and fitness at primary school age - The ABCD study","authors":"A. W. Deutekom, M. Chin-A-Paw, T. Vrijkotte, M. Eijsden, R. Gemke","doi":"10.1007/S12456-013-0032-Z","DOIUrl":"https://doi.org/10.1007/S12456-013-0032-Z","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"45 1","pages":"32"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77533629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0012-3
C. V. Engen, R. Ofman, Inge M. E. Dijkstra, Martin J A Schackmann, R. Wanders, S. Kemp
{"title":"Functional studies on c.1347C>T, a polymorphism modulating phenotypic outcome in X-linked adrenoleukodystrophy","authors":"C. V. Engen, R. Ofman, Inge M. E. Dijkstra, Martin J A Schackmann, R. Wanders, S. Kemp","doi":"10.1007/S12456-013-0012-3","DOIUrl":"https://doi.org/10.1007/S12456-013-0012-3","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"37 1","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73170124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0056-4
T. Israels, E. Borgstein, Dalida Pidini, G. Chagaluka, J. Kraker, S. Kamiza, E. Molyneux
{"title":"Management of children with a Wilms tumour in Malawi, SubSaharan Africa","authors":"T. Israels, E. Borgstein, Dalida Pidini, G. Chagaluka, J. Kraker, S. Kamiza, E. Molyneux","doi":"10.1007/S12456-013-0056-4","DOIUrl":"https://doi.org/10.1007/S12456-013-0056-4","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"1 1","pages":"57"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77126055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0024-Z
G. Bleeker, H. Caron, B. V. Eck, R. Versteeg, S. Kreissman, G. Yanik, G. Tytgat
{"title":"Widespread and diffuse pattern of metastatses at 123I-MIBG scans correlates with MYCN single copy tumors in neuroblastoma","authors":"G. Bleeker, H. Caron, B. V. Eck, R. Versteeg, S. Kreissman, G. Yanik, G. Tytgat","doi":"10.1007/S12456-013-0024-Z","DOIUrl":"https://doi.org/10.1007/S12456-013-0024-Z","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"49 1","pages":"24"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77169049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0102-2
L. Scholten, A. Willemen, B. Last, H. Maurice‐Stam, E. Dijk, E. Ensink, N. Zandbelt, A. Hoop-Mooij, C. Schuengel, M. Grootenhuis
{"title":"Efficacy of psychosocial group intervention for children with chronic illness and their parents: a multicentre randomized controlled trial","authors":"L. Scholten, A. Willemen, B. Last, H. Maurice‐Stam, E. Dijk, E. Ensink, N. Zandbelt, A. Hoop-Mooij, C. Schuengel, M. Grootenhuis","doi":"10.1007/S12456-013-0102-2","DOIUrl":"https://doi.org/10.1007/S12456-013-0102-2","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"23 1","pages":"105"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82073040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0029-7
M. Bunders, C. Loos, P. Klarenbeek, J. Hamme, K. Boer, J. Wilde, N. Vries, R. V. Lier, N. Kootstra, S. Pals, T. Kuijpers
{"title":"Expanded memory CD4+ CCR5+ T cells in the fetal and the infant gut; a mucosal route for mother-to-child-transmission of HIV-1","authors":"M. Bunders, C. Loos, P. Klarenbeek, J. Hamme, K. Boer, J. Wilde, N. Vries, R. V. Lier, N. Kootstra, S. Pals, T. Kuijpers","doi":"10.1007/S12456-013-0029-7","DOIUrl":"https://doi.org/10.1007/S12456-013-0029-7","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"32 1","pages":"29"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76311966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0109-8
F. Vaz, S. Wortmann, A. V. Kampen, E. Morava, A. Brouwer, R. Wevers, W. Kulik, R. Wanders
{"title":"A lipidomics approach to identify disorders in phospholipid metabolism; MEGDEL syndrome unraveled","authors":"F. Vaz, S. Wortmann, A. V. Kampen, E. Morava, A. Brouwer, R. Wevers, W. Kulik, R. Wanders","doi":"10.1007/S12456-013-0109-8","DOIUrl":"https://doi.org/10.1007/S12456-013-0109-8","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"11 1","pages":"112"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86284595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0016-Z
Marleen Raterink, V. Land, K. Fijnvandraat, B. Schmand
{"title":"Cognitive functioning in young adult patients with sickle cell disease","authors":"Marleen Raterink, V. Land, K. Fijnvandraat, B. Schmand","doi":"10.1007/S12456-013-0016-Z","DOIUrl":"https://doi.org/10.1007/S12456-013-0016-Z","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"11 1","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79093379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-05-04DOI: 10.1007/S12456-013-0020-3
A. Bams-Mengerink, H. Koelman, H. Waterham, P. Barth, B. Poll‐The
{"title":"The neurology of rhizomelic chondrodysplasia punctata","authors":"A. Bams-Mengerink, H. Koelman, H. Waterham, P. Barth, B. Poll‐The","doi":"10.1007/S12456-013-0020-3","DOIUrl":"https://doi.org/10.1007/S12456-013-0020-3","url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":"15 1","pages":"20"},"PeriodicalIF":0.0,"publicationDate":"2013-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85256443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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