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European Journal of Human Genetics : EJHG|July 26, 2000
Identification of novel USH2A mutations: implications for the structure of USH2A proteinB Dreyer, L Tranebjaerg, T Rosenberg, et al.European Journal of Human Genetics : EJHG|July 26, 2000
Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studiesR van den Bogaard, C A Fijen, M G Schipper, et al.European Journal of Human Genetics : EJHG|July 26, 2000
Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumoursC Alves, F Silva, L Gusmão, et al.European Journal of Human Genetics : EJHG|July 26, 2000
Pedigree tests of transmission disequilibriumG R Abecasis, W O Cookson, L R CardonEuropean Journal of Human Genetics : EJHG|July 26, 2000
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screeningM P Moizard, A Toutain, D Fournier, et al.European Journal of Human Genetics : EJHG|September 12, 2000
A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC)R W Jones, S Ring, L Tyfield, et al.European Journal of Human Genetics : EJHG|September 12, 2000
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypesM Kirchhoff, H Rose, J Maahr, et al.European Journal of Human Genetics : EJHG|September 12, 2000
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuriaI G Jennings, R G Cotton, B KobeEuropean Journal of Human Genetics : EJHG|September 12, 2000
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3A Mégarbané, N Salem, E Stephan, et al.European Journal of Human Genetics : EJHG|September 12, 2000
Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndromeD Kotzot, A SchinzelPageof 563