E-LIB Suche - Ergebnisse für: Campistol, Jaume

1

Genome and RNA sequencing were essential to reveal cryptic ..:

Morales-Romero, Blai ; Muñoz-Pujol, Gerard ; Artuch, Rafael...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108511 , 2024

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

2

Preliminary results from the ongoing aphenity extension stu..:

Sacharow, Stephanie ; Muntau, Ania C. ; Bratkovic, Drago...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108251 , 2024

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

3

Volumetric brain reductions in adult patients with phenylke..:

Pardo, Jèssica ; Capdevila-Lacasa, Clara ; Segura, Bàrbara...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

4

Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers ..:

Pijuan, Jordi ; Vilanova‐Adell, Alba ; Casas‐Alba, Dídac...
Clinical Genetics. , 2023

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

5

Neuroimaging in early-treated phenylketonuria patients and ..:

De Giorgi, Agnese ; Nardecchia, Francesca ; Manti, Filippo..
Molecular Genetics and Metabolism. 139 (2023) 2 - p. 107588 , 2023

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

6

Leigh syndrome is the main clinical characteristic of PTCD3..:

Muñoz‐Pujol, Gerard ; Ortigoza‐Escobar, Juan D. ; Paredes‐Fuentes, Abraham J....
Brain Pathology. 33 (2022) 3 - p. , 2022

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

7

Presurgical evaluation of drug-resistant paediatric focal e..:

Aparicio, Javier ; Niñerola-Baizán, Aida ; Perissinotti, Andrés...
Seizure. 97 (2022) - p. 43-49 , 2022

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

8

Author Correction: The utility of Next Generation Sequencin..:

Vidal, Silvia ; Brandi, Núria ; Pacheco, Paola...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

9

Pathogenic variants ofDNAJC12and evaluation of the encoded ..:

Gallego, Diana ; Leal, Fátima ; Gámez, Alejandra...
Human Mutation. 41 (2020) 7 - p. 1329-1338 , 2020

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

10

Cardiac phenotype inATP1A3-related syndromes: A multicenter..:

Balestrini, Simona ; Mikati, Mohamad A. ; Álvarez-García-Rovés, Reyes...
Neurology. 95 (2020) 21 - p. , 2020

Link: https://doi.org/10.1212/..

11

Prevalence of sleep disorders in early-treated phenylketonu..:

Gassió, Rosa ; González, María Julieta ; Sans, Oscar...
European Journal of Paediatric Neurology. 23 (2019) 5 - p. 685-691 , 2019

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

12

X chromosome inactivation does not necessarily determine th..:

Xiol, Clara ; Vidal, Silvia ; Pascual-Alonso, Ainhoa...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

13

Further delineation of neuropsychiatric findings in Tatton-..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
European Journal of Human Genetics. 28 (2019) 4 - p. 469-479 , 2019

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

14

MRX93 syndrome (BRWD3 gene): five new patients with novel m..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
Clinical Genetics. 95 (2019) 6 - p. 726-731 , 2019

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

15

Plasma coenzyme Q10 status is impaired in selected genetic ..:

Montero, Raquel ; Yubero, Delia ; Salgado, Maria C....
Scientific Reports. 9 (2019) 1 - p. , 2019

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