Zobrazeno 1 - 10
of 362
pro vyhledávání: '"Beemer, F"'
Autor:
Bassett, A, McDonald McGinn, D, Devriendt, K, Digilio, M, Goldenberg, P, Habel, A, Marino, B, Oskarsdottir, S, Philip, N, Sullivan, K, Swillen, A, Vorstman, J, Abadie, V, Allgrove, J, Amati, F, Baker, K, Baylis, A, Beaujard, M, Beemer, F, Boers, M, Bolton, P, Boot, E, Brigstocke, S, Burtey, S, Campbell, L, Chabloz, M, Chow, E, Clayton Smith, J, Cubells, J, Debbané, M, Delrue, M, De Smedt, B, Duijff, S, Eicher, P, Emanuel, B, Evers, L, Flahault, A, Forsythe, A, Frebourg, T, Gennery, A, Goldmuntz, E, Gosling, A, Handler, S, Heine Suñer, D, Hilmarsson, A, Hogan, A, Hordijk, R, Howley, S, Illingworth, E, Jackson, O, Joyce, H, Kawame, H, Kelly, R, Kemp, A, Kempf, L, Kimpen, J, Kirschner, R, Klaassen, P, Kumararatne, D, Lambert, M, Lima, K, Lindsay, E, Macerola, S, Malki, M, Marlin, S, Mascarenhas, M, Monks, S, Moran, V, Morrow, B, Moss, E, Murphy, C, Naqvi, N, Nielsen, B, Niklasson, L, Nordgarden, H, Oenema Mostert, C, Ottet, M, Pasca, C, Pasquariello, P, Persson, C, Portnoi, M, Prasad, S, Rockers, K, Saitta, S, Scambler, P, Schaer, M, Schneider, M, Sell, D, Solot, C, Sommerlad, B, Unanue, N, Sundram, F, Van Aken, K, van Amelsvoort, T, van der Molen, A, Widdershoven, J, Zackai, E
Publikováno v:
The Journal of pediatrics
The Journal of Pediatrics, Vol. 159, No 2 (2011) pp. 332-339.e1
The Journal of Pediatrics, Vol. 159, No 2 (2011) pp. 332-339.e1
A 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) (Figure). He was born via spontaneous vaginal delivery, weighing 3033 g, to a 31-year-old G3P3 mother after
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb35345d31e437ce264d6426a0cc9733
http://linkinghub.elsevier.com/retrieve/pii/S0022-3476(11)00244-7
http://linkinghub.elsevier.com/retrieve/pii/S0022-3476(11)00244-7
Publikováno v:
None
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fbaab0d8524ff4b4945124de308aacbf
http://hdl.handle.net/1887/18292
http://hdl.handle.net/1887/18292
Publikováno v:
Tijdschrift voor psychiatrie, 46, 747-754. Uitgeverij Boom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::f432ef3324e169468f87a6f9f807f55b
https://pure.amc.nl/en/publications/ernstige-gedragsproblemen-bij-kinderen-met-een-handicap-het-smithmagenissyndroom(95ce16d7-e840-4e06-8e3f-d47473f1aaac).html
https://pure.amc.nl/en/publications/ernstige-gedragsproblemen-bij-kinderen-met-een-handicap-het-smithmagenissyndroom(95ce16d7-e840-4e06-8e3f-d47473f1aaac).html
Publikováno v:
Nederlands Tijdschrift voor de Geneeskunde, 147(32), 1560-1563. NLM (Medline)
Three girls with Rett syndrome are presented. Patients A and B had initially exhibited normal development, patient C showed severe developmental delay from birth on. In all three stereotypical hand movements arose which led to Rett syndrome being sus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::46571daa0a20671164078618dc3b599d
https://research.rug.nl/en/publications/0d8d2657-951a-4e38-be77-543cd74b956d
https://research.rug.nl/en/publications/0d8d2657-951a-4e38-be77-543cd74b956d
Publikováno v:
American Journal of Human Genetics, 72(4), 1040-1046. CELL PRESS
Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genome-wide homozygosity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c665aa1b9888701e59c51e1e7d72451c
https://research.rug.nl/en/publications/db5f46aa-2c9e-40d2-a25d-5026a3360b6f
https://research.rug.nl/en/publications/db5f46aa-2c9e-40d2-a25d-5026a3360b6f
Publikováno v:
Journal of medical genetics, 36(11). BMJ Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::4d7a9de131f3e420487e27b68a070661
https://pure.amc.nl/en/publications/coexistence-of-gaucher-disease-type-1-and-joubert-syndrome--reply(733ff962-fbb1-4bd5-a083-4b43546d973e).html
https://pure.amc.nl/en/publications/coexistence-of-gaucher-disease-type-1-and-joubert-syndrome--reply(733ff962-fbb1-4bd5-a083-4b43546d973e).html
Autor:
Smitt, J. H., van Asperen, C. J., Niessen, C. M., Beemer, F. A., van Essen, A. J., Hulsmans, R. F., Oranje, A. P., Steijlen, P. M., Wesby-van Swaay, E., Tamminga, P., Breslau-Siderius, E. J.
Publikováno v:
Archives of dermatology, 134(5), 577-579. American Medical Association
This study describes 12 cases of restrictive dermopathy seen during a period of 8 years by the Dutch Task Force on Genodermatology. We present these unique consecutive cases to provide more insight into the clinical picture and pathogenesis of the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::51da8e2524270282d26f5f57532acb94
https://pure.amc.nl/en/publications/restrictive-dermopathy-report-of-12-cases-dutch-task-force-on-genodermatology(14c57fe9-1a7a-42e8-9bfa-14349f3264d6).html
https://pure.amc.nl/en/publications/restrictive-dermopathy-report-of-12-cases-dutch-task-force-on-genodermatology(14c57fe9-1a7a-42e8-9bfa-14349f3264d6).html
Autor:
Vreken, P., van Kuilenberg, A. B. P., Meinsma, R., Beemer, F. A., Duran, M., van Gennip, A. H.
Publikováno v:
Journal of inherited metabolic disease, 21(6). Springer Netherlands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::b971291d1ed6aa48fd9efee54073ee71
https://pure.amc.nl/en/publications/dihydropyrimidine-dehydrogenase-deficiency-a-novel-mutation-and-expression-of-missense-mutations-in-ecoli-vol-21-pg-276-1998(4a95e64c-7a59-4b83-ac3d-70f0c5aee03f).html
https://pure.amc.nl/en/publications/dihydropyrimidine-dehydrogenase-deficiency-a-novel-mutation-and-expression-of-missense-mutations-in-ecoli-vol-21-pg-276-1998(4a95e64c-7a59-4b83-ac3d-70f0c5aee03f).html
Publikováno v:
Nederlands tijdschrift voor geneeskunde, 142(18), 1019-1022. Bohn Stafleu van Loghum
To investigate whether screening for carriership of sickle-cell anaemia and thalassaemia is desirable in the Netherlands, given the prevalence of the diseases, the possibilities of a screening test and the knowledge of the population at risk. Descrip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::62251aa4d73a8aa74edf3cbab554211d
https://pure.amc.nl/en/publications/screening-op-dragerschap-van-hemoglobinopathieen-in-nederland-niet-opportuun(9323ea5b-00a9-4856-99d4-c8066cee5fdd).html
https://pure.amc.nl/en/publications/screening-op-dragerschap-van-hemoglobinopathieen-in-nederland-niet-opportuun(9323ea5b-00a9-4856-99d4-c8066cee5fdd).html
Publikováno v:
Pediatrics, 99(2). American Academy of Pediatrics
To determine clinical characteristics in children with osteogenesis imperfecta (OI) regarding impairment (range of joint motion and muscle strength) and disability (functional skills) in relation to the different types of the disease, and to study th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::d534b2022f63e9cdf43ec24300c84f73
https://pure.amc.nl/en/publications/osteogenesis-imperfecta-in-childhood-impairment-and-disability(a816d7b5-2e08-44ba-95aa-4c2c78cd1324).html
https://pure.amc.nl/en/publications/osteogenesis-imperfecta-in-childhood-impairment-and-disability(a816d7b5-2e08-44ba-95aa-4c2c78cd1324).html