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286 results

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Carpenter syndrome in a patient from Tanzania.
Lodhia J, Rego-Garcia I, Koipapi S, Sadiq A, Msuya D, Spaendonk RV, Hamel B, Dekker M. Lodhia J, et al. Am J Med Genet A. 2021 Mar;185(3):986-989. doi: 10.1002/ajmg.a.62015. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33368989
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.
Dekker MCJ, Sadiq AM, Mc Larty R, Mbwasi RM, Willemsen MAAP, Waterham HR, Hamel BC. Dekker MCJ, et al. Among authors: hamel bc. Case Rep Genet. 2019 Dec 31;2019:6148425. doi: 10.1155/2019/6148425. eCollection 2019. Case Rep Genet. 2019. PMID: 32089906 Free PMC article.
Ellis-van Creveld syndrome in a patient from Tanzania.
Dekker MCJ, Sadiq AM, Jusabani MA, Mdavire VJ, Baas F, Morton DH, Hamel BCJ. Dekker MCJ, et al. Among authors: hamel bcj. Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26. Am J Med Genet A. 2019. PMID: 31350806
Compound-heterozygous Marfan syndrome.
Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. Van Dijk FS, et al. Among authors: hamel bc. Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27. Eur J Med Genet. 2009. PMID: 19059503
The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: hamel bc. Eur J Hum Genet. 2011 Mar;19(3):247-52. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063442 Free PMC article.
Down-Turner syndrome: case report and review.
Van Buggenhout GJ, Hamel BC, Trommelen JC, Mieloo H, Smeets DF. Van Buggenhout GJ, et al. Among authors: hamel bc. J Med Genet. 1994 Oct;31(10):807-10. doi: 10.1136/jmg.31.10.807. J Med Genet. 1994. PMID: 7837259 Free PMC article. Review.
286 results