E-LIB Suche - Ergebnisse für: Macaya, Alfons

1

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

2

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:

Kaiyrzhanov, Rauan ; Ortigoza‐Escobar, Juan Darío ; Stringer, Brett W....
Movement Disorders. 39 (2024) 6 - p. 983-995 , 2024

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

3

The Expanding Phenotypical Spectrum of WARS2-Related Disord..:

Pauly, Martje ; Korenke, G. ; Diaw, Sokhna...
Genes. 14 (2023) 4 - p. 822 , 2023

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

4

ClinPrior: an algorithm for diagnosis and novel gene discov..:

Schlüter, Agatha ; Vélez-Santamaría, Valentina ; Verdura, Edgard...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

5

Preterm birth and early life environmental factors: neurops..:

Fernández de Gamarra-Oca, Lexuri ; Zubiaurre-Elorza, Leire ; Gómez-Gastiasoro, Ainara...
Journal of Perinatology. 43 (2023) 11 - p. 1429-1436 , 2023

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

6

Genome-wide DNA methylation analysis in an antimigraine-tre..:

Vila-Pueyo, Marta ; Cuenca-León, Ester ; Queirós, Ana C....
Cephalalgia. 43 (2023) 2 - p. 033310242211463 , 2023

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

7

Child-to-adult transition: a survey of current practices wi..:

Nanetti, Lorenzo ; Kearney, Mary ; Boesch, Sylvia...
Neurological Sciences. , 2023

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

8

De novo KCNA6 variants with attenuated KV1.6 channel deacti..:

Salpietro, Vincenzo ; Galassi Deforie, Valentina ; Efthymiou, Stephanie...
Epilepsia. 64 (2022) 2 - p. 443-455 , 2022

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

9

Loss of seryl-tRNA synthetase (SARS1) causes complex spasti..:

Verdura, Edgard ; Senger, Bruno ; Raspall-Chaure, Miquel...
Journal of Medical Genetics. 59 (2022) 12 - p. 1227-1233 , 2022

Link: https://doi.org/10.1136/..

10

Systematic Collaborative Reanalysis of Genomic Data Improve..:

Bullich, Gemma ; Matalonga, Leslie ; Pujadas, Montserrat...
The Journal of Molecular Diagnostics. 24 (2022) 5 - p. 529-542 , 2022

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

11

The Genetic Landscape of Complex Childhood‐Onset Hyperkinet..:

Pérez‐Dueñas, Belén ; Gorman, Kathleen ; Marcé‐Grau, Anna...
Movement Disorders. 37 (2022) 11 - p. 2197-2209 , 2022

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

12

Real-World Evidence Study on the Long-Term Safety of Everol..:

Ruiz-Falcó Rojas, María Luz ; Feucht, Martha ; Macaya, Alfons...
Frontiers in Pharmacology. 13 (2022) - p. , 2022

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

13

Acetazolamide Improves Episodic Ataxia in a Patient with No..:

Martorell, Loreto ; Macaya, Alfons ; Pérez‐Dueñas, Belén.
Movement Disorders Clinical Practice. 9 (2022) 7 - p. 979-982 , 2022

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

14

Correction to: A guide to writing systematic reviews of rar..:

Atalaia, Antonio ; Thompson, Rachel ; Corvo, Alberto...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

15

Rare manifestations and malignancies in tuberous sclerosis ..:

Sauter, Matthias ; Belousova, Elena ; Benedik, Mirjana P....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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