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Displaying 8 results.
    • Speech
    Mutations in the SOX18 transcription factor underlie recessive and dominant forms of lymphedema with hypotrichosis and telangiectasia.
    Irrthum, A Devriendt, Koenraad[UCL] Chitayat, D Matthijs, G. Mertens, A. Glade, C Steijlen, PM Fryns, JP. Van Steensel, MAM Vikkula, Miikka[UCL] (2003) Annual Meeting of the American-Society-of-Human-Genetics — LOS ANGELES(California)
    • Journal article
    Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50)
    Claes, S Vogels, A. Holvoet, M Devriendt, Koenraad[UCL] Raeymaekers, P Cassiman, JJ. Fryns, JP. (1997) American Journal of Medical Genetics — Vol. 73, no. 4, p. 474-479 (1997)
    • Journal article
    Selective Advantage of Fra (x) Heterozygotes
    Vogel, F. Crusio, WE. Kovac, C. Fryns, JP. Freund, M. (1990) Human Genetics — Vol. 86, no. 1, p. 25-32 (1990)
    • Journal article
    The X-linked infantile spasms syndrome (MIM 308350) maps to xp11.4-Xpter in two pedigrees
    Claes, S Devriendt, Koenraad[UCL] Lagae, Lieven[UCL] Ceulemans, B. Dom, L Casaer, P. Raeymaekers, P Cassiman, JJ. Fryns, JP. (1997) Annals of Neurology — Vol. 42, no. 3, p. 360-364 (1997)
    • Journal article
    Holoprosencephaly and Postaxial Polydactyly With Normal Chromosomes - Another Observation of a New Malformation Syndrome - a Case-report
    Ramaekers, PR. Legius, Eric[UCL] Verloes, A. Gillerot, Y. Vandenberghe, K. Fryns, JP. (1990) European Journal of Obstetrics & Gynecology and Reproductive Biology — Vol. 36, no. 1-2, p. 161-165 (1990)
    • Journal article
    Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
    Munroe, PB Olgunturk, RO Fryns, JP. Van Maldergem, L. Ziereisen, F Yuksel, B Gardiner, RM Chung, E (1999) Nature Genetics — Vol. 21, no. 1, p. 142-144 (1999)
    • Journal article
    A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy
    Steyaert, J. Umans, S Willekens, D Legius, Eric[UCL] Pijkels, E deDieSmulders, C Vandenberghe, Hans Fryns, JP. (1997) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 52, no. 3, p. 135-141 (1997)
    • Journal article
    Second polar body inclusion results in diploid/triploid mixoploidy
    Brems, H. Vogels, A. Ribai, P De Raedt, T Fryns, JP. Legius, Eric[UCL] (2003) Genetic Counseling — Vol. 14, no. 4, p. 425-429 (2003)