Zobrazeno 1 - 10
of 249
pro vyhledávání: '"MULTILOCUS LINKAGE ANALYSIS"'
Publikováno v:
Clinical Genetics. 67(6):517-525
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::a331202b985b177f9b3d2e81622626dd
https://doi.org/10.1111/j.1399-0004.2005.00445.x
https://doi.org/10.1111/j.1399-0004.2005.00445.x
Publikováno v:
JOURNAL OF MEDICAL GENETICS. 32(1):44-47
Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks. The largest known HypoPP family is of Dutch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::fbcfb6900eef23f890586cf32139ca96
https://hdl.handle.net/11370/8ce6e827-c0ec-4306-a600-cb2f4b153310
https://hdl.handle.net/11370/8ce6e827-c0ec-4306-a600-cb2f4b153310
Autor:
Boerman, R.H., Ophoff, R.A., Links, T.P., Eijk, R. van, Sandkuijl, L.A., Elbaz, A., Vale-Santos, J.E., Wintzen, A.R., Deutekom, J.C.T. van, Isles, D.E., Fontaine, B., Padberg, G.W., Frants, R.R.
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 32(1), 44-47. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 32, 44-47
Journal of Medical Genetics, 32, 1, pp. 44-47
Journal of Medical Genetics, 32, 44-47
Journal of Medical Genetics, 32, 1, pp. 44-47
Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks. The largest known HypoPP family is of Dutch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7059bc379c09a0f0afafe42448e05b17
https://hdl.handle.net/2066/20690
https://hdl.handle.net/2066/20690
Autor:
Callenbach, PMC, van den Boogerd, EH, Coo, IFM, ten Houten, R, Oosterwijk, JC, Hageman, G, Frants, RR, Brouwer, OF, Maagdenberg, AMJM
Publikováno v:
Clinical Genetics, 67(6), 517-525. Wiley
Clinical Genetics, 67(6), 517-525. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 67(6), 517-525. Wiley-Blackwell Publishing Ltd
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::65996f3e35953fb65b717ae888719089
https://research.rug.nl/en/publications/9c45d053-f89e-413d-83cf-dc3a134e329e
https://research.rug.nl/en/publications/9c45d053-f89e-413d-83cf-dc3a134e329e
Autor:
MOWRY, BJ, NANCARROW, DJ, LENNON, DP, SANDKUIJL, LA, CROWE, RR, SILVERMAN, JM, MOHS, RC, SIEVER, LJ, ENDICOTT, J, SHARPE, L, WALTERS, MK, HAYWARD, NK, LEVINSON, DF
Publikováno v:
Nature Genetics, 11(3), 233-234. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::f162f375468273a65983a6cba5954cf3
https://research.rug.nl/en/publications/89456932-3481-44f3-9783-39e78ff50505
https://research.rug.nl/en/publications/89456932-3481-44f3-9783-39e78ff50505
Autor:
Frontali, M, Iodice, C, Lulli, P, Spadaro, M, Cappellacci, S, Giunti, P, Malaspina, P, Morellini, M, Morocutti, C, Novelletto, A, Persichetti, F, Trabace, S, Anastasi, R, Terrenato, L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3667::67605a22f459ce63395d27da2b0b9f99
http://hdl.handle.net/2108/44038
http://hdl.handle.net/2108/44038
Publikováno v:
Nature Genetics. 11(3):233-234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::4e44699036627cffdc78fef522298ba3
https://hdl.handle.net/11370/89456932-3481-44f3-9783-39e78ff50505
https://hdl.handle.net/11370/89456932-3481-44f3-9783-39e78ff50505
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