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Campistol, Jaume
209
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Online (208)
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Books (1)
Articles (Online) (113)
Bookchapter (Online) (2)
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1
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/..
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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/..
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3
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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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9
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/..
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10
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/..
?
11
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/..
?
12
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/..
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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
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/..
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15
Encephalopathies with intracranial calcification in childre..:
Cerebral Calcification International Study Group
;
Tonduti, Davide
;
Panteghini, Celeste
...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
1-15