E-LIB Suche - Ergebnisse für: Széll, Márta

1

A novel de novo truncating variant in a Hungarian patient w..:

Nagy, Nikoletta ; Pál, Margit ; Nagy, Dóra...
BMC Pediatrics. 24 (2024) 1 - p. , 2024

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

2

MECP2-gén-duplikáció gyermekkori és praenatalis diagnózisa:

Bokor, Barbara Anna ; Török, Dóra ; Horváth, Emese...
Orvosi Hetilap. 165 (2024) 1 - p. 30-34 , 2024

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

3

Beyond C9orf72: repeat expansions and copy number variation..:

Nagy, Zsófia Flóra ; Pál, Margit ; Engelhardt, József I....
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

4

Missing Heritability in Albinism: Deep Characterization of ..:

Nagy, Nikoletta ; Pal, Margit ; Kun, Jozsef...
International Journal of Molecular Sciences. 25 (2024) 2 - p. 1271 , 2024

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

5

Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Ge..:

Nagy, Zsófia Flóra ; Sonkodi, Balázs ; Pál, Margit..
Biomedicines. 11 (2023) 3 - p. 933 , 2023

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

6

Genetic Screening of a Hungarian Cohort with Focal Dystonia..:

Salamon, András ; Nagy, Zsófia Flóra ; Pál, Margit...
International Journal of Molecular Sciences. 24 (2023) 13 - p. 10745 , 2023

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

7

Spinocerebellar Ataxia in a Hungarian Female Patient with a..:

Boros, Fanni Annamária ; Szpisjak, László ; Bozó, Renáta...
International Journal of Molecular Sciences. 24 (2023) 3 - p. 2617 , 2023

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

8

Whole-Exome Sequencing Identified Two Novel Pathogenic Muta..:

Pál, Margit ; Vetró, Éva ; Nagy, Nikoletta...
Current Issues in Molecular Biology. 45 (2023) 7 - p. 5293-5304 , 2023

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

9

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian ..:

Pál, Margit ; Nagy, Dóra ; Neller, Alexandra...
International Journal of Molecular Sciences. 24 (2023) 8 - p. 7401 , 2023

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

10

Re-analysis of the Hungarian amyotrophic lateral sclerosis ..:

Nagy, Zsófia Flóra ; Pál, Margit ; Salamon, András...
Neurobiology of Aging. 116 (2022) - p. 1-11 , 2022

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

11

Psoriasis-Associated Inflammatory Conditions Induce IL-23 m..:

Kelemen, Evelyn ; Ádám, Éva ; Sági, Stella Márta...
International Journal of Molecular Sciences. 23 (2022) 1 - p. 540 , 2022

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

12

Systemic Screening for 22q11.2 Copy Number Variations in Hu..:

Zodanu, Gloria Kafui Esi ; Oszlánczi, Mónika ; Havasi, Kálmán...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

The association of HLA-C and ERAP1 polymorphismsin early an..:

Képíró, László ; Széll, Márta ; Kovács, László...
Advances in Dermatology and Allergology. 38 (2021) 1 - p. 43-51 , 2021

Link: https://doi.org/10.5114/..

14

Could basement membrane alterations, resembling micro‐wound..:

Bozó, Renáta ; Flink, Lili Borbála ; Belső, Nóra...
Experimental Dermatology. 30 (2021) 6 - p. 765-772 , 2021

Link: https://doi.org/10.1111/..

15

TRAF3 and NBR1 both influence the effect of the disease‐cau..:

Danis, Judit ; Kelemen, Evelyn ; Rajan, Neil...
Experimental Dermatology. 30 (2021) 11 - p. 1705-1710 , 2021

Link: https://doi.org/10.1111/..