| Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome C Eßinger, S Karch, U Moog, G Fekete, A Lengyel, E Pinti, T Eggermann, ... Clinical Epigenetics 12, 1-7, 2020 | 14 | 2020 |
| Diagnostic difficulties and possibilities of NF1-like syndromes in childhood E Pinti, K Nemeth, K Staub, A Lengyel, G Fekete, I Haltrich BMC pediatrics 21, 1-14, 2021 | 13 | 2021 |
| What should we consider in the case of combined Down-and 47, XY,+ i (X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature E Pinti, A Lengyel, G Fekete, I Haltrich BMC pediatrics 20, 1-8, 2020 | 7 | 2020 |
| An ultra-rare manifestation of an X-linked recessive disorder: Duchenne muscular dystrophy in a female patient Z Szűcs, É Pinti, I Haltrich, OP Szén, T Nagy, E Barta, G Méhes, L Bidiga, ... International Journal of Molecular Sciences 23 (21), 13076, 2022 | 5 | 2022 |
| Similar cause, different phenotype: SOX9 enhancer duplication in a family E Pinti, H Piko, A Lengyel, A Luczay, V Karcagi, G Fekete, I Haltrich Hormone Research in Paediatrics 92 (5), 335-339, 2020 | 5 | 2020 |
| Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort A Lengyel, É Pinti, H Pikó, Á Kristóf, T Abonyi, Z Némethi, G Fekete, ... Molecular Cytogenetics 15 (1), 47, 2022 | 4 | 2022 |
| Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature A Lengyel, É Pinti, H Pikó, E Jávorszky, D David, M Tihanyi, É Gönczi, ... European Journal of Medical Genetics 63 (10), 104027, 2020 | 4 | 2020 |
| Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban É Pinti, A Lengyel, Á Sallai, G Fekete, I Haltrich Orvosi Hetilap 159 (27), 1121-1128, 2018 | 4 | 2018 |
| Microdeletions in 1q21 and 8q12. 1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes N Baba, A Lengyel, E Pinti, E Yapici, I Schreyer, T Liehr, G Fekete, ... Molecular Cytogenetics 15 (1), 19, 2022 | 2 | 2022 |
| A 22q11. 2-microdeletiós szindróma klinikai jellemzői F Szumutku, K Kádár, ÁF Kovács, A Lengyel, É Pinti, Z Némethi, T Abonyi, ... Orvosi Hetilap 163 (1), 21-30, 2022 | 2 | 2022 |
| Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement A Lengyel, É Pinti, K Nebral, H Pikó, A Ujfalusi, OA Haas, G Fekete, ... Journal of Genetics 100, 1-6, 2021 | 2 | 2021 |
| Deletion of 16q22. 2q23. 3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome A Lengyel, É Pinti, T Eggermann, G Fekete, I Haltrich Molecular Syndromology 12 (5), 300-304, 2021 | 2 | 2021 |
| Trisomy 9p and clinical heterogeneity: case report of an unusual presentation A Lengyel, A Kosik, É Pinti, C Lódi, K Tory, G Fekete, I Haltrich Orvosi Hetilap 159 (47), 1994-2000, 2018 | 2 | 2018 |
| A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging P Anker, L Fésűs, N Kiss, A Lengyel, É Pinti, I Lihacova, A Lihachev, ... Diagnostics 13 (14), 2368, 2023 | 1 | 2023 |
| Fabry-betegség–diagnosztikai útmutató ÁF Kovács, A Ponyi, T Constantin, G Kovács, K Németh, E Varga, ... | 1 | 2021 |
| A pontos genetikai diagnózis jelentősége az 1-es típusú neurofibromatózisban és a nemi fejlődési zavarokban É Pinti | | 2023 |
| Pre-and perinatal aspects of sex chromosome abnormalities and other gonadal dysgeneses E Pinti, A Lengyel, Z Nemethi, T Abonyi, G Fekete, I Haltrich | | 2022 |
| Fabry-betegség: terápiás és utánkövetési irányelvek. KÁ Ferenc, P Andrea, C Tamás, K Gábor, N Krisztina, V Edit, L Anna, ... Gyermekgyogyaszat 72 (3), 2021 | | 2021 |
| Fabry-betegség-diagnosztikai útmutató. KÁ Ferenc, P Andrea, C Tamás, K Gábor, N Krisztina, V Edit, L Anna, ... Gyermekgyogyaszat 72 (2), 2021 | | 2021 |
| Family studies of two complex chromosomal translocations I Haltrich, A Lengyel, E Pinti, K Nebral, H Piko, G Fekete, OA Haas MOLECULAR CYTOGENETICS 12, 2019 | | 2019 |
