E-LIB Suche - Ergebnisse für: Éva Pinti

1

A Cross-Sectional Study of the Dermatological Manifestation..:

Anker, Pálma ; Fésűs, Luca ; Kiss, Norbert...
Diagnostics. 13 (2023) 14 - p. 2368 , 2023

2

An Ultra-Rare Manifestation of an X-Linked Recessive Disord..:

Szűcs, Zsuzsanna ; Pinti, Éva ; Haltrich, Irén...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 13076 , 2022

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

3

Microdeletions in 1q21 and 8q12.1 depict two additional mol..:

Baba, Naomi ; Lengyel, Anna ; Pinti, Eva...
Molecular Cytogenetics. 15 (2022) 1 - p. , 2022

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

4

Clinical evaluation of rare copy number variations identifi..:

Lengyel, Anna ; Pinti, Éva ; Pikó, Henriett...
Molecular Cytogenetics. 15 (2022) 1 - p. , 2022

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

5

A 22q11.2-microdeletiós szindróma klinikai jellemzői:

Szumutku, Fanni ; Kádár, Krisztina ; Kovács, Árpád Ferenc...
Orvosi Hetilap. 163 (2022) 1 - p. 21-30 , 2022

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

6

Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene i..:

Lengyel, Anna ; Pinti, Éva ; Nebral, Karin...
Journal of Genetics. 100 (2021) 2 - p. , 2021

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

7

Diagnostic difficulties and possibilities of NF1-like syndr..:

Pinti, Eva ; Nemeth, Krisztina ; Staub, Krisztina...
BMC Pediatrics. 21 (2021) 1 - p. , 2021

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

8

Frequency of KCNQ1 variants causing loss of methylation of ..:

Eßinger, Carla ; Karch, Stephanie ; Moog, Ute...
Clinical Epigenetics. 12 (2020) 1 - p. , 2020

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

9

Clinical and genetic findings in Hungarian pediatric patien..:

Lengyel, Anna ; Pinti, Éva ; Pikó, Henriett...
European Journal of Medical Genetics. 63 (2020) 10 - p. 104027 , 2020

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

10

What should we consider in the case of combined Down- and 4..:

Pinti, Eva ; Lengyel, Anna ; Fekete, Gyorgy.
BMC Pediatrics. 20 (2020) 1 - p. , 2020

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

11

A Cross-Sectional Study of the Dermatological Manifestation..:

Pálma Anker ; Luca Fésűs ; Norbert Kiss...
Medical Imaging and Theranostics. , 2023

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

12

A Cross-Sectional Study of the Dermatological Manifestation..:

Pálma Anker ; Luca Fésűs ; Norbert Kiss...
https://www.mdpi.com/2075-4418/13/14/2368. , 2023

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

13

An Ultra-Rare Manifestation of an X-Linked Recessive Disord..:

Zsuzsanna Szűcs ; Éva Pinti ; Irén Haltrich...
https://www.mdpi.com/1422-0067/23/21/13076. , 2022

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

14

Microdeletions in 1q21 and 8q12.1 depict two additional mol..:

Naomi Baba ; Anna Lengyel ; Eva Pinti...
https://doi.org/10.1186/s13039-022-00596-z. , 2022

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

15

An Ultra-Rare Manifestation of an X-Linked Recessive Disord..:

Zsuzsanna Szűcs ; Éva Pinti ; Irén Haltrich...
Molecular Pathology, Diagnostics, and Therapeutics. , 2022

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