E-LIB Suche - Ergebnisse für: Berutti, Riccardo

1

Is there a dominant‐negative effect in individuals with het..:

Riedhammer, Korbinian M. ; Simmendinger, Hannes ; Tasic, Velibor...
Clinical Genetics. 105 (2024) 4 - p. 406-414 , 2024

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

2

Next-generation sequencing and comprehensive data reassessm..:

Krenn, Martin ; Wagner, Matias ; Zulehner, Gudrun...
Journal of Neurology. 271 (2023) 4 - p. 1937-1946 , 2023

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

3

Correction: Comprehensive genetic screening of early-onset ..:

Silvaieh, Sara ; König, Theresa ; Wurm, Raphael...
Human Genomics. 17 (2023) 1 - p. , 2023

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

4

Episignature analysis of moderate effects and mosaics:

Oexle, Konrad ; Zech, Michael ; Stühn, Lara G....
European Journal of Human Genetics. 31 (2023) 9 - p. 1032-1039 , 2023

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

5

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of..:

Harrer, Philip ; Škorvánek, Matej ; Kittke, Volker...
Movement Disorders. 38 (2023) 10 - p. 1914-1924 , 2023

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

6

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D. ; Shimura, Masaru...
Hepatology. 79 (2023) 5 - p. 1075-1087 , 2023

Link: https://doi.org/10.1097/..

7

Exome sequencing in individuals with congenital anomalies o..:

Riedhammer, Korbinian M. ; Ćomić, Jasmina ; Tasic, Velibor...
European Journal of Human Genetics. 31 (2023) 6 - p. 674-680 , 2023

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

8

Comprehensive genetic screening of early-onset dementia pat..:

Silvaieh, Sara ; König, Theresa ; Wurm, Raphael...
Human Genomics. 17 (2023) 1 - p. , 2023

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

9

Reply to Li and Colleagues:

Kratz, Christian P ; Smirnov, Dmitrii ; Autry, Robert...
JNCI: Journal of the National Cancer Institute. 115 (2023) 6 - p. 760-761 , 2023

Link: https://doi.org/10.1093/..

10

Challenges in Establishing the Diagnosis of PRRT2‐Related D..:

Dzinovic, Ivana ; Graf, Elisabeth ; Brugger, Melanie...
Movement Disorders Clinical Practice. 10 (2023) 7 - p. 1159-1161 , 2023

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

11

TAOK1-related neurodevelopmental disorder: A new differenti..:

Blaschek, Astrid ; Sitzberger, Alexandra ; Brugger, Melanie...
Parkinsonism & Related Disorders. 109 (2023) - p. 105320 , 2023

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

12

Reply to Evans and Woodward:

Kratz, Christian P ; Smirnov, Dmitrii ; Autry, Robert...
JNCI: Journal of the National Cancer Institute. 115 (2022) 2 - p. 231-232 , 2022

Link: https://doi.org/10.1093/..

13

The multifaceted phenotypic and genotypic spectrum of type-..:

Ćomić, Jasmina ; Riedhammer, Korbinian M. ; Günthner, Roman...
Frontiers in Medicine. 9 (2022) - p. , 2022

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

14

Case report: Novel SCN4A variant associated with a severe c..:

Berghold, Veronika M. ; Koko, Mahmoud ; Berutti, Riccardo.
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

15

Guidelines for clinical interpretation of variant pathogeni..:

Smirnov, Dmitrii ; Schlieben, Lea D. ; Peymani, Fatemeh..
Human Mutation. 43 (2022) 8 - p. 1056-1070 , 2022

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