E-LIB Suche - Ergebnisse für: László Madar

1

#1558 Mutational spectrum of X-linked hypophosphatemia (XLH..:

Balogh, Istvan ; Szabo, Tamas ; Reusz, Gyorgy...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

Link: https://doi.org/10.1093/..

2

Double Heterozygosity for Rare Deleterious Variants in the ..:

Madar, László ; Majoros, Viktória ; Szűcs, Zsuzsanna...
International Journal of Molecular Sciences. 24 (2023) 20 - p. 15334 , 2023

Link: https://doi.org/10.3390/..

3

A magyar Cystás Fibrosis Regiszter genetikai revíziója:

Deák, Anna ; Koczok, Katalin ; Bessenyei, Beáta...
Orvosi Hetilap. 163 (2022) 51 - p. 2052-2059 , 2022

Link: https://doi.org/10.1556/..

4

Establishing the Mutational Spectrum of Hungarian Patients ..:

Madar, László ; Juhász, Lilla ; Szűcs, Zsuzsanna...
Genes. 13 (2022) 1 - p. 153 , 2022

Link: https://doi.org/10.3390/..

5

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectoderm..:

Szabó, Tímea Margit ; Balogh, István ; Ujfalusi, Anikó...
Genes. 13 (2022) 12 - p. 2367 , 2022

Link: https://doi.org/10.3390/..

6

A Comprehensive Analysis of Hungarian MODY Patients—Part II..:

Gaál, Zsolt ; Szűcs, Zsuzsanna ; Kántor, Irén...
Life. 11 (2021) 8 - p. 771 , 2021

Link: https://doi.org/10.3390/..

7

A Comprehensive Analysis of Hungarian MODY Patients—Part I:..:

Gaál, Zsolt ; Szűcs, Zsuzsanna ; Kántor, Irén...
Life. 11 (2021) 8 - p. 755 , 2021

Link: https://doi.org/10.3390/..

8

Novel RB1 and MET Gene Mutations in a Case with Bilateral R..:

Mokánszki, Attila ; Chang Chien, Yi-Che ; Mótyán, János András...
Diagnostics. 11 (2020) 1 - p. 28 , 2020

Link: https://doi.org/10.3390/..

9

A Rare Double Heterozygous Mutation in Low-Density Lipoprot..:

Juhász, Lilla ; Balogh, István ; Madar, László..
Cureus. , 2020

Link: https://doi.org/10.7759/..

10

FBN1 gene mutations in 26 Hungarian patients with suspected..:

Madar, László ; Szakszon, Katalin ; Pfliegler, György...
Journal of Biotechnology. 301 (2019) - p. 105-111 , 2019

Link: https://doi.org/10.1016/..

11

A DNA pool of FLT3-ITD positive DNA samples can be used eff..:

Mezei, Zoltán A. ; Tornai, Dávid ; Földesi, Róza...
Journal of Biotechnology. 303 (2019) - p. 25-29 , 2019

Link: https://doi.org/10.1016/..

12

Analytical parameters and validation of homopolymer detecti..:

Ivády, Gergely ; Madar, László ; Dzsudzsák, Erika...
BMC Genomics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

13

Comprehensive genetic testing in children with a clinical d..:

Szabó, Tamás ; Orosz, Petronella ; Balogh, Eszter...
Pediatric Nephrology. 33 (2018) 10 - p. 1713-1721 , 2018

Link: https://doi.org/10.1007/..

14

Interfering effect of maternal cell contamination on invasi..:

Koczok, Katalin ; Gombos, Éva ; Madar, László..
Prenatal Diagnosis. 38 (2018) 9 - p. 713-719 , 2018

Link: https://doi.org/10.1002/..

15

A novel point mutation affecting Asn76 of dystrophin protei..:

Koczok, Katalin ; Merő, Gabriella ; Szabó, Gabriella P....
Neuromuscular Disorders. 28 (2018) 2 - p. 129-136 , 2018

Link: https://doi.org/10.1016/..