A citation-based method for searching scientific literature

A Tibben, H J Duivenvoorden, M Vegter-van der Vlis, M F Niermeijer, P G Frets, J J van de Kamp, R A Roos, H G Rooijmans, F Verhage. Am J Med Genet 1993
Times Cited: 74







List of shared articles



Times cited


A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.
D Eccles, J Harvey, A Bateman, F Ross. J Med Genet 2001
6

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.
V Bourdon, C Philippe, T Bienvenu, B Koenig, M Tardieu, J Chelly, P Jonveaux. J Med Genet 2001
17

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.
M Montera, F Piaggio, C Marchese, V Gismondi, A Stella, N Resta, L Varesco, G Guanti, C Mareni. J Med Genet 2001
44

Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders.
A Imamura, N Shimozawa, Y Suzuki, Z Zhang, T Tsukamoto, T Orii, T Osumi, N Kondo. J Med Genet 2001
3

Psychosocial impact of predictive testing for Huntington disease on support persons.
J K Williams, D L Schutte, P A Holkup, C Evers, A Muilenburg. Am J Med Genet 2000
24

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).
I Kobayashi, R Shiari, M Yamada, N Kawamura, M Okano, A Yara, A Iguchi, N Ishikawa, T Ariga, Y Sakiyama,[...]. J Med Genet 2001
87

Sponastrime dysplasia: presentation in infancy.
A C Offiah, M Lees, R M Winter, C M Hall. J Med Genet 2001
6

Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
B R√∂thlisberger, T Zerova, D Kotzot, T I Buzhievskaya, D Balmer, A Schinzel. J Med Genet 2001
26


Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.
A C DudokdeWit, A Tibben, H J Duivenvoorden, P G Frets, M W Zoeteweij, M Losekoot, A van Haeringen, M F Niermeijer, J Passchier. J Med Genet 1997
58



Psychological studies in Huntington's disease: making up the balance.
M Duisterhof, R W Trijsburg, M F Niermeijer, R A Roos, A Tibben. J Med Genet 2001
42

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches.
S Fokstuen, J Myring, C Evans, P S Harper. J Med Genet 2001
11

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
J Amiel, V Raclin, J M Jouannic, N Morichon, H Hoffman-Radvanyi, M Dommergues, J Feingold, A Munnich, J P Bonnefont. J Med Genet 2001
5