E-LIB Suche - Ergebnisse für: Tripolszki, Kornelia

1

P614: The clinical genome: Validation data beyond clinical ..:

Tripolszki, Kornelia ; Bilinski, Melina ; Bieg, Matthias...
Genetics in Medicine Open. 2 (2024) - p. 101520 , 2024

2

Infantile Hyperchylomicronemia Due to A Novel GPIHBP1 Disea..:

Marzouq, Iman ; Elbanna, Basant ; Schröder, Sabine...
Archives of Pediatric Gastroenterology, Hepatology, and Nutrition. 2 (2023) 2 - p. 25-31 , 2023

Link: https://doi.org/10.58427..

3

P576: Impact of processed pseudogene insertions in genetic ..:

Tripolszki, Kornelia ; Martini, Javier ; Kampe, Kapil...
Genetics in Medicine Open. 1 (2023) 1 - p. 100623 , 2023

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

4

Application of a dried blood spot based proteomic and genet..:

Iuraşcu, Marius‐Ionuţ ; Balla, Zsuzsanna ; Pereira, Catarina...
Clinical and Translational Allergy. 13 (2023) 11 - p. , 2023

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

5

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1470-1481 , 2023

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

6

HIDEA syndrome is caused by biallelic, pathogenic, rare or ..:

Kraatari‐Tiri, Minna ; Soikkonen, Leila ; Myllykoski, Matti...
Clinical Genetics. 102 (2022) 5 - p. 444-450 , 2022

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

7

Biallelic ZNFX1 variants are associated with a spectrum of ..:

Alawbathani, Salem ; Westenberger, Ana ; Ordonez‐Herrera, Natalia...
Clinical Genetics. 101 (2021) 2 - p. 247-254 , 2021

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

8

High rate of abnormal findings in Prenatal Exome Trio in lo..:

Vaknin, Noam ; Azoulay, Noy ; Tsur, Erez...
Prenatal Diagnosis. 42 (2021) 6 - p. 725-735 , 2021

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

9

Combining exome/genome sequencing with data repository anal..:

Bertoli-Avella, Aida M. ; Kandaswamy, Krishna K. ; Khan, Suliman...
Genetics in Medicine. 23 (2021) 8 - p. 1551-1568 , 2021

Link: https://doi.org/10.1038/..

10

Passive Transfer of Blood Sera from ALS Patients with Ident..:

Polgár, Tamás F. ; Meszlényi, Valéria ; Nógrádi, Bernát...
International Journal of Molecular Sciences. 22 (2021) 18 - p. 9994 , 2021

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

11

An X‐linked syndrome with severe neurodevelopmental delay, ..:

Tripolszki, Kornelia ; Sasaki, Erina ; Hotakainen, Ronja...
Clinical Genetics. 99 (2020) 2 - p. 303-308 , 2020

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

12

Passive Transfer of Sera from ALS Patients with Identified ..:

Meszlényi, Valéria ; Patai, Roland ; Polgár, Tamás F....
International Journal of Molecular Sciences. 21 (2020) 15 - p. 5566 , 2020

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

13

Comprehensive Genetic Analysis of a Hungarian Amyotrophic L..:

Tripolszki, Kornélia ; Gampawar, Piyush ; Schmidt, Helena...
Frontiers in Genetics. 10 (2019) - p. , 2019

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

14

Angiogenin mutations in Hungarian patients with amyotrophic..:

Tripolszki, Kornélia ; Danis, Judit ; Padhi, Aditya K....
Brain and Behavior. 9 (2019) 6 - p. , 2019

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

15

Experimental Motor Neuron Disease Induced in Mice with Long..:

Obál, Izabella ; Nógrádi, Bernát ; Meszlényi, Valéria...
International Journal of Molecular Sciences. 20 (2019) 10 - p. 2573 , 2019

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