Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J
Published in Journal of medical genetics (01.10.1997)
Published in Journal of medical genetics (01.10.1997)
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Journal Article
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R
Published in The Lancet (British edition) (18.12.2004)
Published in The Lancet (British edition) (18.12.2004)
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Journal Article
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
Hoornaert, K P, Dewinter, C, Vereecke, I, Beemer, F A, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Müllner-Eidenböck, A, Rimoin, D L, Siderius, L, Superti-Furga, A, Temple, K, Willems, P J, Zankl, A, Zweier, C, De Paepe, A, Coucke, P, Mortier, G R
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Journal Article
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
Dorland, Marinus, van Amstel, Hans Kristian Ploos, Beemer, Frits A, van den Boogaard, Marie-José H
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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Journal Article
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
Ozgen, HM, Van Daalen, E, Bolton, PF, Maloney, VK, Huang, S, Cresswell, L, Van Den Boogaard, MJ, Eleveld, MJ, Van‘t Slot, R, Hochstenbach, R, Beemer, FA, Barrow, M, Barber, JCK, Poot, M
Published in Clinical genetics (01.10.2009)
Published in Clinical genetics (01.10.2009)
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Journal Article
Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?
PIETERSE, Ah, VAN DULMEN, Am, AUSEMS, Mgem, BEEMER, Fa, BENSI, Jm
Published in British journal of cancer (09.05.2005)
Published in British journal of cancer (09.05.2005)
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Journal Article
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the Connexin 43 gene
van Es, R.J.J, Wittebol-Post, D, Beemer, F.A
Published in International journal of oral and maxillofacial surgery (01.09.2007)
Published in International journal of oral and maxillofacial surgery (01.09.2007)
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Journal Article
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling
Ausems, M G, Verbiest, J, Hermans, M P, Kroos, M A, Beemer, F A, Wokke, J H, Sandkuijl, L A, Reuser, A J, van der Ploeg, A T
Published in European journal of human genetics : EJHG (01.09.1999)
Published in European journal of human genetics : EJHG (01.09.1999)
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Journal Article
Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: A matched control study
Jansen, P.W., Duijff, S.N., Beemer, F.A., Vorstman, J.A.S., Klaassen, P.W.J., Morcus, M.E.J., Heineman-de Boer, J.A.
Published in American journal of medical genetics. Part A (15.03.2007)
Published in American journal of medical genetics. Part A (15.03.2007)
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Journal Article
Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome
Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C.M., Scambler, Peter J.
Published in American journal of human genetics (01.07.2000)
Published in American journal of human genetics (01.07.2000)
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Journal Article
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
VAN KUILENBURG, A. B. P, VREKEN, P, CHRISTENSEN, E, HOLOPAINEN, I, PULKKI, K, RIVA, D, BOTTEON, G, HOLME, E, TULINIUS, M, KLEIJER, W. J, BEEMER, F. A, DURAN, M, ABELING, N. G. G. M, NIEZEN-KONING, K. E, SMIT, G. P. A, JAKOBS, C, SMIT, L. M. E, MOOG, U, SPAAPEN, L. J. M, VAN GENNIP, A. H, BAKKER, H. D, MEINSMA, R, VAN LENTHE, H, DE ABREU, R. A, SMEITINK, J. A. M, KAYSERILI, H, APAK, M. Y
Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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Journal Article
Pediatric generalized joint hypermobility with and without musculoskeletal complaints: a localized or systemic disorder?
Engelbert, Raoul H H, Bank, Ruud A, Sakkers, Ralph J B, Helders, Paul J M, Beemer, Frits A, Uiterwaal, Cuno S P M
Published in Pediatrics (Evanston) (01.03.2003)
Published in Pediatrics (Evanston) (01.03.2003)
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Journal Article
Isolated and contiguous glycerol kinase gene disorders: A review
Sjarif, D. R., Ploos van Amstel, J. K., Duran, M., Beemer, F. A., Poll‐The, B. T.
Published in Journal of inherited metabolic disease (01.09.2000)
Published in Journal of inherited metabolic disease (01.09.2000)
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Journal Article
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
Raas-Rothschild, A, Bargal, R, Goldman, O, Ben-Asher, E, Groener, J E M, Toutain, A, Stemmer, E, Ben-Neriah, Z, Flusser, H, Beemer, F A, Penttinen, M, Olender, T, Rein, A J J T, Bach, G, Zeigler, M
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
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Journal Article
Minor physical anomalies in autism: a meta-analysis
Ozgen, H M, Hop, J W, Hox, J J, Beemer, F A, van Engeland, H
Published in Molecular psychiatry (01.03.2010)
Published in Molecular psychiatry (01.03.2010)
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Journal Article
Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype
Lichtenbelt, K.D., Hochstenbach, R., van Dam, W.M., Eleveld, M.J., Poot, M., Beemer, F.A.
Published in American journal of medical genetics. Part A (01.01.2005)
Published in American journal of medical genetics. Part A (01.01.2005)
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Journal Article
Osteogenesis imperfecta in childhood: Treatment strategies
Engelbert, Raoul H.H., Pruijs, Hans E.H., Beemer, Frits A., Helders, Paul J.M.
Published in Archives of Physical Medicine and Rehabilitation (01.12.1998)
Published in Archives of Physical Medicine and Rehabilitation (01.12.1998)
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Book Review
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