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Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.
Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA. Ploos van Amstel JK, et al. Among authors: hamel bc. Hum Mol Genet. 1994 Mar;3(3):503-5. doi: 10.1093/hmg/3.3.503. Hum Mol Genet. 1994. PMID: 8012363 No abstract available.
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Among authors: hamel b. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Nelen MR, et al. Among authors: hamel b. Eur J Hum Genet. 1999 Apr;7(3):267-73. doi: 10.1038/sj.ejhg.5200289. Eur J Hum Genet. 1999. PMID: 10234502
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC. Demirdas S, et al. Among authors: hamel b. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. Clin Genet. 2017. PMID: 27582382
Clinical and molecular studies in a large Dutch family with Noonan syndrome.
van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. van der Burgt I, et al. Among authors: hamel b. Am J Med Genet. 1994 Nov 1;53(2):187-91. doi: 10.1002/ajmg.1320530213. Am J Med Genet. 1994. PMID: 7856646
9th international workshop on fragile X syndrome and X-linked mental retardation.
Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A. Fryns JP, et al. Among authors: hamel b. Am J Med Genet. 2000 Oct 23;94(5):345-60. doi: 10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11050616 No abstract available.
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, L├╝decke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ. Wuyts W, et al. Among authors: hamel b. Am J Hum Genet. 1998 Feb;62(2):346-54. doi: 10.1086/301726. Am J Hum Genet. 1998. PMID: 9463333 Free PMC article.
Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.
Morrison K, Papapetrou C, Attwood J, Hol F, Lynch SA, Sampath A, Hamel B, Burn J, Sowden J, Stott D, Mariman E, Edwards YH. Morrison K, et al. Among authors: hamel b. Hum Mol Genet. 1996 May;5(5):669-74. doi: 10.1093/hmg/5.5.669. Hum Mol Genet. 1996. PMID: 8733136
Marden-Walker syndrome: case report, literature review and nosologic discussion.
Schrander-Stumpel C, de Die-Smulders C, de Krom M, Schyns-Fleuran S, Hamel B, Jaeken D, Fryns JP. Schrander-Stumpel C, et al. Among authors: hamel b. Clin Genet. 1993 Jun;43(6):303-8. doi: 10.1111/j.1399-0004.1993.tb03823.x. Clin Genet. 1993. PMID: 8370150 Review.
Prediction of mental status in carriers of the fragile X mutation using CGG repeat length.
Smits A, Smeets D, Hamel B, Dreesen J, de Haan A, van Oost B. Smits A, et al. Among authors: hamel b. Am J Med Genet. 1994 Jul 15;51(4):497-500. doi: 10.1002/ajmg.1320510440. Am J Med Genet. 1994. PMID: 7943027
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