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X
Martí, Ramon
1936  Ergebnisse:
Personensuche X
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1

Data from the European registry for patients with McArdle d..:

Karazi, Walaa ; Scalco, Renata S. ; Stemmerik, Mads G....
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

Identification of two novel RRM2B variants associated with ..:

Restrepo-Vera, Juan Luis ; Rovira-Moreno, Eulàlia ; Ramón, Javier...
Journal of Human Genetics.  68 (2023)  8 - p. 527-532 , 2023
Link: https://doi.org/10.1038/..
 
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3

Distinctive gastrointestinal motor dysfunction in patients ..:

Alcalá‐González, Luis G. ; Accarino, Anna ; Martí, Ramon...
Neurogastroenterology & Motility.  35 (2023)  10 - p. , 2023
Link: https://doi.org/10.1111/..
 
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4

Agua y poblamiento en el curso inferior del Ebro: Los espac..:

Negre, Joan ; Martí, Ramon
Agua y Territorio / Water and Landscape.  , 2023
Link: https://doi.org/10.17561..
 
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5

Interest-based Routing in Opportunistic Networks: Evaluatin..:

, In: 2023 19th International Conference on Wireless and Mobile Computing, Networking and Communications (WiMob),
Cordova-Pintado, Daniela ; Sanchez-Carmona, Adrian ; Marti, Ramon - p. 188-193 , 2023
Link: https://doi.org/10.1109/..
 
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6

RRM1 variants cause a mitochondrial DNA maintenance disorde..:

Shintaku, Jonathan ; Pernice, Wolfgang M. ; Eyaid, Wafaa...
Journal of Clinical Investigation.  132 (2022)  13 - p. , 2022
Link: https://doi.org/10.1172/..
 
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7

232nd ENMC international workshop: Recommendations for trea..:

López-Gómez, Carlos ; Cámara, Yolanda ; Hirano, Michio.
Neuromuscular Disorders.  32 (2022)  7 - p. 609-620 , 2022
Link: https://doi.org/10.1016/..
 
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8

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/..
 
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9

Paving the way towards delivering messages based on user in..:

, In: 2022 18th International Conference on Wireless and Mobile Computing, Networking and Communications (WiMob),
Cordova-Pintado, Daniela ; Sanchez-Carmona, Adrian ; Marti, Ramon - p. 190-197 , 2022
Link: https://doi.org/10.1109/..
 
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10

Most mitochondrial dGTP is tightly bound to respiratory com..:

Molina-Granada, David ; González-Vioque, Emiliano ; Dibley, Marris G....
Communications Biology.  5 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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11

Pathological Features in Paediatric Patients with TK2 Defic..:

Jou, Cristina ; Nascimento, Andres ; Codina, Anna...
International Journal of Molecular Sciences.  23 (2022)  19 - p. 11002 , 2022
Link: https://doi.org/10.3390/..
 
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12

Therapy Prospects for Mitochondrial DNA Maintenance Disorde..:

Ramón, Javier ; Vila-Julià, Ferran ; Molina-Granada, David...
International Journal of Molecular Sciences.  22 (2021)  12 - p. 6447 , 2021
Link: https://doi.org/10.3390/..
 
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13

Collaborative model for diagnosis and treatment of very rar..:

Domínguez-González, Cristina ; Madruga-Garrido, Marcos ; Hirano, Michio...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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14

Two Novel Variants in YARS2 Gene Are Responsible for an Ext..:

Carreño-Gago, Lidia ; Juárez-Flores, Diana Luz ; Grau, Josep Maria...
Journal of Clinical Medicine.  10 (2021)  16 - p. 3471 , 2021
Link: https://doi.org/10.3390/..
 
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15

Dysfunctional mitochondrial translation and combined oxidat..:

Molina‐Berenguer, Miguel ; Vila‐Julià, Ferran ; Pérez‐Ramos, Sandra...
The FASEB Journal.  36 (2021)  1 - p. , 2021
Link: https://doi.org/10.1096/..
 
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