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

por Pinti, Eva, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Publicado 2020

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

por Pinti, Eva, Nemeth, Krisztina, Staub, Krisztina, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Publicado 2021

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

por Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias
Publicado 2020

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

por Baba, Naomi, Lengyel, Anna, Pinti, Eva, Yapici, Elzem, Schreyer, Isolde, Liehr, Thomas, Fekete, György, Eggermann, Thomas
Publicado 2022

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

por Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Kristóf, Árvai, Abonyi, Tünde, Némethi, Zaránd, Fekete, György, Haltrich, Irén
Publicado 2022

A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging

por Anker, Pálma, Fésűs, Luca, Kiss, Norbert, Lengyel, Anna, Pinti, Éva, Lihacova, Ilze, Lihachev, Alexey, Plorina, Emilija Vija, Fekete, György, Medvecz, Márta
Publicado 2023

An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient

por Szűcs, Zsuzsanna, Pinti, Éva, Haltrich, Irén, Szén, Orsolya Pálné, Nagy, Tibor, Barta, Endre, Méhes, Gábor, Bidiga, László, Török, Olga, Ujfalusi, Anikó, Koczok, Katalin, Balogh, István
Publicado 2022