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European Journal of Human Genetics : EJHG|April 21, 2001
Sensorineural hearing loss and the incidence of Cx26 mutations in AustriaJ Löffler, D Nekahm, A Hirst-Stadlmann, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Parental origin of de novo MECP2 mutations in Rett syndromeM Girard, P Couvert, A Carrié, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Alu insertion polymorphisms and the genetic structure of human populations from the CaucasusI Nasidze, G M Risch, M Robichaux, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathyM Grasso, M Diegoli, A Brega, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: 'some notable progress'P S White, P Y Kwok, P Oefner, et al.
European Journal of Human Genetics : EJHG|December 7, 2000
Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic FibrosisE Dequeker, H Cuppens, J Dodge, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
Familial robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21U A Mau, U R Petruch, P Kaiser, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the NetherlandsP F Koppens, T Hoogenboezem, H J Degenhart
European Journal of Human Genetics : EJHG|November 28, 2000
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9I Demuth, M Wlodarski, A J Tipping, et al.
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