Keymolen K - Search Results

1

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G. Sock E, et al. Among authors: keymolen k. Hum Mol Genet. 2003 Jun 15;12(12):1439-47. doi: 10.1093/hmg/ddg158. Hum Mol Genet. 2003. PMID: 12783851

2

Xeroderma pigmentosum and leukaemia in two sisters.

Pintens S, Pierret L, Keymolen K, Gutermuth J, De Raeve L. Pintens S, et al. Among authors: keymolen k. J Eur Acad Dermatol Venereol. 2016 Oct;30(10):e42-e43. doi: 10.1111/jdv.13288. Epub 2015 Oct 7. J Eur Acad Dermatol Venereol. 2016. PMID: 26446056 No abstract available.

3

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.

Leemans G, De Raeve L, Keymolen K. Leemans G, et al. Among authors: keymolen k. J Eur Acad Dermatol Venereol. 2020 Apr;34(4):876-879. doi: 10.1111/jdv.16134. Epub 2020 Jan 6. J Eur Acad Dermatol Venereol. 2020. PMID: 31803976

4

[Echography in the infertility clinic].

Goes E, Keymolen K, Claes H, Wissanto A, Braeckman P, Camu M, Devroey P, Osteaux M. Goes E, et al. Among authors: keymolen k. J Belge Radiol. 1988;71(3):347-51. J Belge Radiol. 1988. PMID: 3049524 Dutch. No abstract available.

5

The comparative impact of real time ultrasound and mammography in the diagnosis of T0T1 and T2T4 breast tumors.

Van Goethem M, Van Dam P, Hoste M, Kersschot E, Keymolen K, Beeckman P, Collin C, Gordenne W, De Schepper A. Van Goethem M, et al. Among authors: keymolen k. J Belge Radiol. 1987;70(6):509-13. J Belge Radiol. 1987. PMID: 3329188 No abstract available.

6

Quality control in mammography: practical implications.

De Luyck I, Goes E, Mol H, Keymolen K, Van Loon R, Osteaux M. De Luyck I, et al. Among authors: keymolen k. J Belge Radiol. 1995 Feb;78(1):24-8. J Belge Radiol. 1995. PMID: 7890590

7

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. Nikopoulos K, et al. Among authors: keymolen k. Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. Invest Ophthalmol Vis Sci. 2011. PMID: 21421862

8

The mutation spectrum in RECQL4 diseases.

Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Siitonen HA, et al. Among authors: keymolen k. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.

9

Congenital hypertrichosis lanuginosa in a father and son.

De Raeve L, Keymolen K. De Raeve L, et al. Among authors: keymolen k. Arch Dermatol. 2011 Jun;147(6):746-7. doi: 10.1001/archdermatol.2011.137. Arch Dermatol. 2011. PMID: 21690547 No abstract available.

10

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Verpoorten N, et al. Among authors: keymolen k. Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373086

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