Ágnes Sallai

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Ken McElreavey, Anne Jørgensen, Caroline Eozénou et al. · Genetics in Medicine · 2019 · 62 citations · Full text

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

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Petra Dušátková, Roland Pfäffle, Milton R. Brown et al. · European Journal of Human Genetics · 2015 · 45 citations · Full text

Developmental Biology, Pituitary Gland, Genetic Disorder +7

High prevalence of PROP1 gene mutations in hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

Zita Halász, Judit Tõke, Attila Patócs et al. · Endocrine · 2006 · 23 citations

Hungarian Patients, Pituitary Gland, Genetic Disorder +9