European Journal of Human Genetics
Collection
Collection
- ISSN: 10184813
Published by Nature Publishing Group NPG (MacMillan)
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Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging Article
European Journal of Human Genetics, 7(5), 526-532.R.F. Kooy (Frank), E. Reyniers (Edwin), M. Verhoye (Marleen), J. Sijbers, C.E. Bakker (Cathy), B.A. Oostra (Ben), P.J. Willems (Patrick) and A. van der Linden
January 1999 -
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Article
European Journal of Human Genetics, 7(4), 505-509.D.L. Stone (Deborah ), O.P. van Diggelen (Otto), J.B.C. de Klerk (Johannes), J.L.J. Gaillard (J. L J), M.F. Niermeijer (Martinus), R. Willemsen (Rob), N. Tayebi (Nahid) and E. Sidransky (Ellen)
May 1999 -
Nucleotide changes in the γ-globin promoter and the (AT)(x)N(y)(AT)(z) polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF Article
European Journal of Human Genetics, 7(3), 345-356.S. Samakoglu, J.N.J. Philipsen (Sjaak), F.G. Grosveld (Frank), G. Lüleci (Güven) and H. Bagci
May 1999 -
Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling Article
European Journal of Human Genetics, 7(6), 713-716.M.G.E.M. Ausems (Margreet), J. Verbiest (J.), M.M.P. Hermans (Monique), M.A. Kroos (Marian), F.A. Beemer (Frits), J.H.J. Wokke (John), L.A. Sandkuijl (Lodewijk), A.J.J. Reuser (Arnold) and A.T. van der Ploeg (Ans)
September 1999 -
Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease Article
European Journal of Human Genetics, 7(7), 801-806.C.M. van Duijn (Cornelia), M. Cruts (Marc), J. Theuns (Jessie), G. van Gassen (Geert), H. Backhovens (Hubert), M. van den Broeck (Marleen), A. Wehnert (Anita), S. Serneels (Sally), A. Hofman (Albert) and C. van Broeckhoven (Christine)
October 1999 -
Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome Article
European Journal of Human Genetics, 8(1), 54-62.S. Schiller (Simone), S. Spranger (Stephanie), B. Schechinger (Birgit), M. Fukami (Maki), S. Merker (Sabine), S.L.S. Drop (Stenvert), A. Tröger (Anja), H. Knoblauch (Hans), J. Kunze (Jürgen), J. Seidel (Jörg), et al. G. Rappold (Gudrun)
January 2000 -
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands Article
European Journal of Human Genetics, 8(11), 827-836.P.F.J. Koppens, T. Hoogenboezem (Theo) and H.J. Degenhart (Herman)
January 2000 -
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: Four new mutations in the non-Jewish population Article
European Journal of Human Genetics, 8(7), 557-560.E.A. Sistermans (Erik), I.F.M. de Coo (René), H. van Beerendonk (Hetty), B.T. Poll-The, W.J. Kleijer (Wim) and B.A. van Oost (B.)
July 2000