E-LIB Suche - Ergebnisse für: Pinti, Éva

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

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/..

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

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/..

6

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/..

7

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/..

8

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/..

9

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/..

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

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

Szűcs, Zsuzsanna ; Pinti, Éva ; Haltrich, Irén...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655586/. , 2022

Link: http://www.ncbi.nlm.nih...

12

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

Baba, Naomi ; Lengyel, Anna ; Pinti, Eva...
info:eu-repo/semantics/altIdentifier/pmid/pmid:35562807. , 2022

Link: https://publications.rwt..

13

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

Szűcs, Zsuzsanna ; Pinti, Éva ; Haltrich, Irén...
International Journal Of Molecular Sciences. -23 : 21 (2022), p. 1-15. -Int. J. Mol. Sci. - 1422-0067. , 2022

Link: https://hdl.handle.net/2..

14

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

Baba, Naomi ; Lengyel, Anna ; Pinti, Eva...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107271/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Clinical evaluation of rare copy number variations identifi..:

Lengyel, Anna ; Pinti, Éva ; Pikó, Henriett...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623912/. , 2022

Link: http://www.ncbi.nlm.nih...