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juan j[au]
(321 results)?
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.
Nat Genet. 1994 Dec;8(4):380-6. doi: 10.1038/ng1294-380.
Nat Genet. 1994.
PMID: 7894490
Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.
Czlonkowska A, Rodo M, Gajda J, Ploos van Amstel HK, Juyn J, Houwen RH.
Czlonkowska A, et al. Among authors: juyn j.
J Neurol. 1997 Sep;244(9):591-2. doi: 10.1007/s004150050149.
J Neurol. 1997.
PMID: 9352458
No abstract available.
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H714Q mutation in Wilson disease is associated with late, neurological presentation.
Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R.
Houwen RH, et al. Among authors: juyn j.
J Med Genet. 1995 Jun;32(6):480-2. doi: 10.1136/jmg.32.6.480.
J Med Genet. 1995.
PMID: 7666402
Free PMC article.
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Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK.
van der Sijs-Bos CJ, et al. Among authors: juyn ja.
Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351.
Hum Hered. 1996.
PMID: 8807319
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Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.
Bijlsma EK, Delattre O, Juyn JA, Melot T, Westerveld A, Dumanski JP, Thomas G, Hulsebos TJ.
Bijlsma EK, et al. Among authors: juyn ja.
Genes Chromosomes Cancer. 1993 Oct;8(2):112-8. doi: 10.1002/gcc.2870080208.
Genes Chromosomes Cancer. 1993.
PMID: 7504514
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