E-LIB Suche - Ergebnisse für: Horváth, Emese

1

Az első hazai tapasztalatok összegzése kromoszomális microa..:

Pikó, Henriett ; Illés, Anett ; Nagy, Sándor...
Orvosi Hetilap. 165 (2024) 14 - p. 523-530 , 2024

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

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

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/..

4

Hereditary and non-hereditary etiologies associated with ex..:

Salamon, András ; Zádori, Dénes ; Ujfalusi, Anikó...
Metabolic Brain Disease. 36 (2021) 7 - p. 2131-2139 , 2021

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

5

Genetic investigation confirmed the clinical phenotype of c..:

Dávid, Éva ; Török, Dóra ; Farkas, Katalin...
BMC Pediatrics. 19 (2019) 1 - p. , 2019

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

6

Explore the childhood onset pancreatitis with the support o..:

Párniczky, Andrea ; Németh, Balázs Csaba ; Mosztbacher, Dóra...
Pancreatology. 18 (2018) 4 - p. S19 , 2018

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

7

Clinical significance of pathogenic CFTR mutations in child..:

Sándor, Máté ; Bokor, Barbara Anna ; Németh, Balázs Csaba...
Pancreatology. 17 (2017) 3 - p. S100-S101 , 2017

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

8

Analysis of pediatric pancreatitis (APPLE). Multicenter pro..:

Parniczky, Andrea ; Németh, Balázs Cs. ; Mosztbacher, Dóra...
Pancreatology. 17 (2017) 3 - p. S122 , 2017

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

9

Clinical significance of pathogenic CTRC mutations in child..:

Bokor, Barbara Anna ; Sándor, Máté ; Németh, Balázs Csaba...
Pancreatology. 17 (2017) 3 - p. S99-S100 , 2017

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

10

Somatic mosaicism of the PIK3CA gene identified in a Hungar..:

Tripolszki, Kornélia ; Knox, Rachel ; Parker, Victoria...
European Journal of Medical Genetics. 59 (2016) 4 - p. 223-226 , 2016

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

11

Identification of a novel missense GLRA1 gene mutation in h..:

Horváth, Emese ; Farkas, Katalin ; Herczegfalvi, Ágnes..
Journal of Medical Case Reports. 8 (2014) 1 - p. , 2014

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

12

Nasal bone length: prenasal thickness ratio: a strong 2D ul..:

Szabó, Andrea ; Szili, Károly ; Szabó, János Tamás...
Prenatal Diagnosis. 34 (2014) 12 - p. 1139-1145 , 2014

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

13

Early detection of Angelman syndrome resulting from de novo..:

Horváth, Emese ; Horváth, Zsuzsanna ; Isaszegi, Dóra...
Molecular Cytogenetics. 6 (2013) 1 - p. 35 , 2013

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

14

Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the..:

Gajda, Anna ; Horváth, Emese ; Hortobágyi, Tibor...
Journal of Child Neurology. 30 (2013) 5 - p. 627-630 , 2013

Link: https://doi.org/10.1177/..

15

Role of the vascular endothelial growth factor in the inver..:

Sikovanyecz, János ; Horváth, Emese ; Földesi, Imre...
Journal of Perinatal Medicine. 39 (2011) 2 - p. , 2011

Link: https://doi.org/10.1515/..