Zobrazeno 1 - 10 of 354 pro vyhledávání: '"Beemer, FA"'
1
Risk factors for visual-motor integration and intelligence in children with craniofacial anomalies
Autor: Okkerse, J.M.E., Beemer, FA, Mellenbergh, GJ, Wolters, WHG, Boer, Coby, Heinemann, T
Publikováno v: The Journal of Craniofacial Surgery, 16, 517-524. Lippincott Williams & Wilkins
Journal of Craniofacial Surgery, 16(4), 517-524. Lippincott Williams & Wilkins
The purpose of this study was to investigate the relation between condition variables and child variables in children with craniofacial anomalies (CFA). Condition variables were brain anomalies, obliterated sutures, syndromic diagnosis, hypertelorism
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42069cc94f4225b7a071b3df4a722b2a
https://hdl.handle.net/1765/63738
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2
Akademický článek
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
Autor: de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R
Publikováno v: In The Lancet 18-31 December 2004 364(9452):2221-2222
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4
Parental Age in Sporadic Hereditary Retinoblastoma
Autor: Jan Willem Koten, Derkinderen Dj, Willem Den Otter, Beemer Fa, L. K. J. Van Romunde, K.E.W.P. Tan
Publikováno v: American Journal of Ophthalmology. 110:605-609
Of 104 children with sporadic hereditary retinoblastoma born between 1945 and 1970, we studied the age of their parents at the birth and compared this age with the mean age of parents at the birth of their children during the same period in The Nethe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3bcec94af4fd67f7ac5af2508df601
https://doi.org/10.1016/s0002-9394(14)77056-4
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5
Pediatric generalized joint hypermobility with and without musculoskeletal complaints: A localized or systemic disorder?
Autor: Engelbert, RHH, Bank, RA, Sakkers, RJB, Helders, PJM, Beemer, FA, Uiterwaal, CSPM
Publikováno v: Pediatrics, 111(3):248. AMER ACAD PEDIATRICS
Objectives. Children with generalized hypermobility of the joints and musculoskeletal complaints frequently visit pediatric clinics, but many show no currently known collagen or other possibly related diseases. Whether the symptoms are confined to th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::9ce84d0bc18083908be24a640bda4348
https://research.rug.nl/en/publications/60f9a086-8a32-48d1-b4ef-1276b023743f
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6
Community Genetics in the Netherlands: past and future
Autor: de Walle, HEK, Henneman, L, Verheij, JBGM, Beemer, FA, Broertjes, JJS, Springer, CP, ten Kate, LP
Publikováno v: European Journal of Human Genetics, 10, 194-194. Nature Publishing Group
de Walle, HEK, Henneman, L, Verheij, JBGM, Beemer, FA, Broertjes, JJS, Springer, CP & ten Kate, LP 2002, ' Community Genetics in the Netherlands: past and future ', European Journal of Human Genetics, vol. 10, pp. 194-194 .
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8bd89bfd8aef029ec1a9f9351e1a70c1
https://research.vumc.nl/en/publications/77f7392e-68f9-4e16-9a19-38bd518b5b16
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7
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
Autor: Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul Darmency, V, Thauvin Robinet, C, Franco, B, OFD1 Collaborative Group including Bankier A, Oral Facial Digital Type I., White, S, Collins, F, Gardner, M, Keeling, Sl, Tan, T, Mcgaughran, J, Mckenzie, F, Lhotta, K, Abdulla, F, Destree, A, Devriendt, K, Matthijs, G, Ferrier, R, Mcleod, Dr, Friedman, Jm, Heran, H, Graham, Ge, Klatt, R, Teebi, A, Jensen, P, Gilbert, B, Marlin, S, Trousseau, A, Toutain, A, David, A, Odent, S, Héron, D, Burglen, L, Rio, M, Jouk, Ps, Plessis, G, Lespinasse, J, Giuliano, F, Turc Carel, C, Betz, Rc, Heim, S, Klehr Martinelli, M, Kotzot, D, Minnerop, M, Schell Apacik, C, Gal, A, Orth, U, Gillessen Kaesbach, G, Zoll, B, Mucke, J, Tzschach, A, Godde, E, Carmi, R, Brunetti, N, Scarcella, A, Castelluccio, P, Castellan, C, Gerola, O, Bigoni, S, Zelante, L, Foggia, S, Sabato, A, Bianchini, G, Nuova, As, Virdis, R, Ferrero, Giovanni Battista, Selicorni, A, Gurrieri, F, Cuore, S, Megarbane, A, Chiong, Ma, Cutiongco, Em, Obersztyn, E, Kutkowska Kazmierczak, A, Mota, Cr, de Magalhaes, D, Stevanovic, G, Del Pozo JS, Barcina, Mg, Iwarsson, E, Graber, V, Okhowat, R, Shinzel, A, Brunner, Hg, Krapels, I, Hovers, V, Beemer, Fa, Terhal, P, Rump, P, Elcioglu, N, Toprak, O, Burn, J, Henderson, A, Jones, E, Dean, J, Castle, B, Macdonald, F, Farndon, P, Williams, D, Homfray, T, Lees, M, Loughlin, S, Raymond, Fl, Trump, D, Whittaker, J, Smithson, S, Rankin, J, Turner, C, Bird, L, Chibuk, J, Masser Frye, D, Sell, S, Amy, S, Schafer, I, Bartoshesky, Le, Jenny, K, Benke, P, Curry, C, Swenerton, A, Treisman, T, Dunlap, Jw, Shashi, V, Reich, E, Reimschisel, T, Pfau, R, Pober, B, Robertson, J, Roggenbuck, J, Thiese, H.
Publikováno v: Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases
Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous syst
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ce4117a09b52e55c5f27f15a27823e
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8
Parents' responses to disclosure of genetic test results of their children
Autor: Grosfeld, FJM, Beemer, FA, Lips, CJM, ten Kroode, HFJ
Publikováno v: American Journal of Medical Genetics, 94(4), 316-323. WILEY-LISS
The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early-onset, monogenetic cancer disorder multiple endocrine neoplas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::51074a04db63eeb701ba7b32dc1c3e63
https://research.rug.nl/en/publications/aa2d47f7-ab4f-4bfe-b42e-ac2efcb4ca28
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10
Restrictive dermopathy, report of 12 cases
Autor: Smitt, JHS, van Asperen, CJ, Niessen, CM, Beemer, FA, van Essen, AJ, Hulsmans, RFHJ, Oranje, AP, Steijlen, PM, Wesby-van Swaay, E, Tamminga, P, Breslau-Siderius, EJ
Publikováno v: Archives of Dermatology, 134, 577-579. American Medical Association
ARCHIVES OF DERMATOLOGY, 134(5), 577-579
Background: 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 pathogenes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::41c6f84836390fa13a6c767b8c4d384c
https://pure.eur.nl/en/publications/56d156df-822c-45f0-aadb-f1b1f1beecca
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