10 results for author:"Niermeijer M.F." in Literature citations
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| Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Valstar M.J., Bertoli-Avella A.M., Wessels M.W., Ruijter G.J.G., de Graaf B., Olmer R., Elfferich P., Neijs S., Kariminejad R., Suheyl Ezgue F. et al. Hum. Mutat. 31:E1348-E1360(2010) · UniProtKB (1) · Mapped (7) |
| Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation. Jacobs L.J., de Coo I.F., Nijland J.G., Galjaard R.J., Los F.J., Schoonderwoerd K., Niermeijer M.F., Geraedts J.P., Scholte H.R., Smeets H.J. Mol. Hum. Reprod. 11:223-228(2005) · Mapped (6) |
| One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Lodder L.N., Frets P.G., Trijsburg R.W., Meijers-Heijboer E.J., Klijn J.G., Seynaeve C., van Geel A.N., Tilanus M.M., Bartels C.C., Verhoog L.C. et al. Breast Cancer Res. Treat. 73:97-112(2002) · Mapped (18) |
| A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Rosso S.M., Van Herpen E., Deelen W., Kamphorst W., Severijnen L.-A., Willemsen R., Ravid R., Niermeijer M.F., Dooijes D., Smith M.J. et al. Ann. Neurol. 51:373-376(2002) · UniProtKB (1) |
| Psychological impact of receiving a BRCA1/BRCA2 test result. Lodder L., Frets P.G., Trijsburg R.W., Meijers-Heijboer E.J., Klijn J.G., Duivenvoorden H.J., Tibben A., Wagner A., van der Meer C.A., van den Ouweland A.M. et al. Am. J. Med. Genet. 98:15-24(2001) · Mapped (18) |
| Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. Wagner A., Hendriks Y., Meijers-Heijboer E.J., de Leeuw W.J., Morreau H., Hofstra R., Tops C., Bik E., Brocker-Vriends A.H., van Der Meer C. et al. J. Med. Genet. 38:318-322(2001) · Mapped (6) |
| LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Shackleton S., Lloyd D.J., Jackson S.N.J., Evans R., Niermeijer M.F., Singh B.M., Schmidt H., Brabant G., Kumar S., Durrington P.N. et al. Nat. Genet. 24:153-156(2000) · UniProtKB (1) |
| Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Stone D.L., van Diggelen O.P., de Klerk J.B.C., Gaillard J.L.J., Niermeijer M.F., Willemsen R., Tayebi N., Sidransky E. Eur. J. Hum. Genet. 7:505-509(1999) · UniProtKB (1) |
| High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Rizzu P., Van Swieten J.C., Joosse M., Hasegawa M., Stevens M., Tibben A., Niermeijer M.F., Hillebrand M., Ravid R., Oostra B.A. et al. Am. J. Hum. Genet. 64:414-421(1999) · UniProtKB (1) |
| Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L., Halley D.J.J., Drop S.L.S. Am. J. Hum. Genet. 60:1003-1006(1997) · UniProtKB (1) |