E-LIB Suche - Ergebnisse für: Kotzaeridou, Urania

1

MRI in LARS1 deficiency—Spectrum, patterns, and correlation..:

Hammann, Nicole ; Lenz, Dominic ; Bianzano, Alyssa...
Journal of Inherited Metabolic Disease. , 2024

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

2

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Doma..:

Scorrano, Giovanna ; D'Onofrio, Gianluca ; Accogli, Andrea...
Pediatric Neurology. 149 (2023) - p. 84-92 , 2023

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

3

A reverse genetics and genomics approach to gene paralog fu..:

Marafi, Dana ; Kozar, Nina ; Duan, Ruizhi...
The American Journal of Human Genetics. 109 (2022) 9 - p. 1713-1723 , 2022

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

4

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022

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

5

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander M. ; VanCoillie, Rachel ; Vansickle, Elizabeth A....
Genetics in Medicine. 24 (2022) 10 - p. 2065-2078 , 2022

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

6

Blood DNA methylation provides an accurate biomarker of KMT..:

Mirza-Schreiber, Nazanin ; Zech, Michael ; Wilson, Rory...
Brain. 145 (2021) 2 - p. 644-654 , 2021

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

7

Expanded phenotype of AARS1-related white matter disease:

Helman, Guy ; Mendes, Marisa I. ; Nicita, Francesco...
Genetics in Medicine. 23 (2021) 12 - p. 2352-2359 , 2021

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

8

De novo variants in neurodevelopmental disorders—experience..:

Brunet, Theresa ; Jech, Robert ; Brugger, Melanie...
Clinical Genetics. 100 (2021) 1 - p. 14-28 , 2021

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

9

Heterozygous variants in BDNF associated with a syndrome of..:

Knoll, Jasmine ; Mihalek, Ivana ; Glavan, Tomislav...
Molecular Genetics and Metabolism. 132 (2021) - p. S177 , 2021

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

10

Genotypic diversity and phenotypic spectrum of infantile li..:

Lenz, Dominic ; Smith, Desirée E.C. ; Crushell, Ellen...
Genetics in Medicine. 22 (2020) 11 - p. 1863-1873 , 2020

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

11

De novo variants inCELF2that disrupt the nuclear localizati..:

Itai, Toshiyuki ; Hamanaka, Kohei ; Sasaki, Kazunori...
Human Mutation. 42 (2020) 1 - p. 66-76 , 2020

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

12

Novel pathogenic EIF2S3 missense variants causing clinicall..:

Kotzaeridou, Urania ; Young‐Baird, Sara K. ; Suckow, Vanessa...
Clinical Genetics. 98 (2020) 5 - p. 507-514 , 2020

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

13

Pathogenic WDFY3 variants cause neurodevelopmental disorder..:

Le Duc, Diana ; Giulivi, Cecilia ; Hiatt, Susan M...
Brain. 142 (2019) 9 - p. 2617-2630 , 2019

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

14

Compound heterozygous SPATA5 variants in four families and ..:

Puusepp, Sanna ; Kovacs-Nagy, Reka ; Alhaddad, Bader...
European Journal of Human Genetics. 26 (2018) 3 - p. 407-419 , 2018

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

15

The genotypic and phenotypic spectrum of MTO1 deficiency:

O'Byrne, James J. ; Tarailo-Graovac, Maja ; Ghani, Aisha...
Molecular Genetics and Metabolism. 123 (2018) 1 - p. 28-42 , 2018

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