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European Journal of Human Genetics : EJHG|April 11, 2000
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patientsO Amaral, A Marcão, M Sá Miranda, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
A novel expression based approach for assessing the inactivation status of human X-linked genesD Benjamin, I Van Bakel, I W Craig
European Journal of Human Genetics : EJHG|April 11, 2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard, V des Portes, N Levy, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counsellingM Decruyenaere, G Evers-Kiebooms, L Denayer, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single familyD P Kelsell, A L Wilgoss, G Richard, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primatesZ Shan, B Zabel, U Trautmann, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
Accuracy of family history of cancer: clinical genetic implicationsR H Sijmons, A E Boonstra, J Reefhuis, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Spectrum of retGC1 mutations in Leber's congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
European Journal of Human Genetics : EJHG|May 11, 1999
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotypeK Grønskov, T Rosenberg, A Sand, et al.
European Journal of Human Genetics : EJHG|May 11, 1999
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosisM Shohat, N Magal, T Shohat, et al.
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