Výsledky vyhledávání - "Tempelaars, AMP (Anita)"

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence ofr genotype-phenotype correlation

Autor: van Slegtenhorst, Marjon, Verhoef, S, Tempelaars, AMP (Anita), Bakker, CE, Wang, Q (Qing), Wessels, W, Bakker, R (Lida), Nellist, Mark, Lindhout, D (Dick), Halley, Dicky, van den Ouweland, Ans

Publikováno v: Journal of Medical Genetics, 36, 285-289. BMJ Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::600de3da10358c01fe76c491c6c045b1
https://pure.eur.nl/en/publications/e777769e-ed05-4159-b1b7-dc65eeeb3009

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Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family

Autor: Verhoef, S, Schrander-Strumpel, CTRM, Vuzevski, V (Vojislav), Tempelaars, AMP (Anita), Jansen, LAJ, Malfeyt, GAM, Ceelen, ThL, Lindhout, D (Dick), Halley, Dicky, van den Ouweland, Ans

Publikováno v: Journal of Medical Genetics, 35, 841-845. BMJ Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::057eb2b02703248fc77cbf4b6d15b47a
https://pure.eur.nl/en/publications/8ed07123-217e-47df-a9ff-66634362bf86

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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC)

Autor: Wang, Q (Qing), Verhoef, S, Tempelaars, AMP (Anita), Bakker, PLG, Vrtel, R, Hesseling-Janssen, ALW, Nellist, Mark, Oranje, Arnold, Stroink, H (Hans), Lindhout, D (Dick), Halley, Dicky, van den Ouweland, Ans

Publikováno v: Human Mutation, 11, 331-334. Wiley-Liss Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::cb34087188332a215bc09f4fcf5b4a0e
https://pure.eur.nl/en/publications/c1e173be-8bd6-45f2-91ea-08e12ab21938

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