A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient

por Juhász, Lilla, Balogh, István, Madar, László, Kovács, Beáta, Harangi, Mariann
Publicado 2020

Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report

por Molnár, Zsuzsanna, Balogh, Lfdia, Kappelmayer, János, Madar, László, Gombos, Éva, Balogh, István
Publicado 2017

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia

por Madar, László, Juhász, Lilla, Szűcs, Zsuzsanna, Kerkovits, Lóránt, Harangi, Mariann, Balogh, István
Publicado 2022

Molecular Analysis of Cystic Fibrosis Patients in Hungary – An Update to the Mutational Spectrum

por Ivády, Gergely, Koczok, Katalin, Madar, Laszlo, Gombos, Eva, Toth, Izabella, Gyori, Klaudia, Balogh, István
Publicado 2015

Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer

por Madar, László, Majoros, Viktória, Szűcs, Zsuzsanna, Nagy, Orsolya, Babicz, Tamás, Butz, Henriett, Patócs, Attila, Balogh, István, Koczok, Katalin
Publicado 2023

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system

por Ivády, Gergely, Madar, László, Dzsudzsák, Erika, Koczok, Katalin, Kappelmayer, János, Krulisova, Veronika, Macek, Milan, Horváth, Attila, Balogh, István
Publicado 2018

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

por Szabó, Tímea Margit, Balogh, István, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Madar, László, Koczok, Katalin, Bessenyei, Beáta, Csürke, Ildikó, Szakszon, Katalin
Publicado 2022

A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes

por Gaál, Zsolt, Szűcs, Zsuzsanna, Kántor, Irén, Luczay, Andrea, Tóth-Heyn, Péter, Benn, Orsolya, Felszeghy, Enikő, Karádi, Zsuzsanna, Madar, László, Balogh, István
Publicado 2021

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases

por Gaál, Zsolt, Szűcs, Zsuzsanna, Kántor, Irén, Luczay, Andrea, Tóth-Heyn, Péter, Benn, Orsolya, Felszeghy, Enikő, Karádi, Zsuzsanna, Madar, László, Balogh, István
Publicado 2021

Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma

por Mokánszki, Attila, Chang Chien, Yi-Che, Mótyán, János András, Juhász, Péter, Bádon, Emese Sarolta, Madar, László, Szegedi, István, Kiss, Csongor, Méhes, Gábor
Publicado 2020