G. Fekete

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

Vita Dolžan, J. Sólyom, G. Fekete et al. · European Journal of Endocrinology · 2005 · 96 citations · Full text

Dysfunction of <i><scp>SHANK2</scp></i> and <i><scp>CHRNA7</scp></i> in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

Bettina Chilian, Hengameh Abdollahpour, Tatjana Bierhals et al. · Clinical Genetics · 2013 · 95 citations

Neurogenomics, Genetics, Molecular Genetics +29

Role for the Wilms tumor gene in genital development?

Veronica van Heyningen, Wendy A. Bickmore, Anne Seawright et al. · Proceedings of the National Academy of Sciences · 1990 · 95 citations · Full text

Cytogenetics, Genetics, Overlap Region +17

National registry of patients with juvenile idiopathic inflammatory myopathies in Hungary—Clinical characteristics and disease course of 44 patients with juvenile dermatomyositis

T. Constantin, T. Constantin, A. Ponyi et al. · Autoimmunity · 2006 · 53 citations

Y-chromosome markers in Turner syndrome: Screening of 130 patients

Ágnes Sallai, J. Sólyom, M. Dobos et al. · Journal of Endocrinological Investigation · 2009 · 50 citations

Down Syndrome, Cytogenetics, Genetic Disorder +5