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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. [electronic resource] by
- Vidal, Silvia
- Brandi, Núria
- Pacheco, Paola
- Gerotina, Edgar
- Blasco, Laura
- Trotta, Jean-Rémi
- Derdak, Sophia
- Del Mar O'Callaghan, Maria
- Garcia-Cazorla, Àngels
- Pineda, Mercè
- Armstrong, Judith
Producer: 20190716
In:
Scientific reports vol. 7
Availability: No items available.
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8.
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Multidrug-resistant tuberculosis in UK children: presentation, management and outcome. [electronic resource] by
- Williams, Bhanu
- Ramroop, Shiva
- Shah, Pooja
- Anderson, Laura
- Das, Sreena
- Riddell, Anna
- Liebeschuetz, Sue
- Basu Roy, Robin
- O'Callaghan, Maria
- Sloper, Katherine
- Bernatoniene, Jolanta
- Shingadia, Delane
- Kampmann, Beate
Producer: 20140129
In:
The European respiratory journal vol. 41
Availability: No items available.
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9.
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Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome. [electronic resource] by
- Duarte, Sofia Temudo
- Armstrong, Judith
- Roche, Ana
- Ortez, Carlos
- Pérez, Ana
- O'Callaghan, Maria del Mar
- Pereira, Antonina
- Sanmartí, Francesc
- Ormazábal, Aida
- Artuch, Rafael
- Pineda, Mercedes
- García-Cazorla, Angels
Producer: 20140303
In:
PloS one vol. 8
Availability: No items available.
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10.
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New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. [electronic resource] by
- del Mar O'Callaghan, María
- Emperador, Sonia
- López-Gallardo, Ester
- Jou, Cristina
- Buján, Nuria
- Montero, Raquel
- Garcia-Cazorla, Angels
- Gonzaga, Diana
- Ferrer, Isidre
- Briones, Paz
- Ruiz-Pesini, Eduardo
- Pineda, Mercè
- Artuch, Rafael
- Montoya, Julio
Producer: 20130111
In:
Neurogenetics vol. 13
Availability: No items available.
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11.
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Mutation loads in different tissues from six pathogenic mtDNA point mutations. [electronic resource] by
- O'Callaghan, María M
- Emperador, Sonia
- Pineda, Mercè
- López-Gallardo, Ester
- Montero, Raquel
- Yubero, Delia
- Jou, Cristina
- Jimenez-Mallebrera, Cecilia
- Nascimento, Andrés
- Ferrer, Isidre
- García-Cazorla, Angels
- Ruiz-Pesini, Eduardo
- Montoya, Julio
- Artuch, Rafael
Producer: 20160210
In:
Mitochondrion vol. 22
Availability: No items available.
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12.
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Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content. [electronic resource] by
- Asencio, Claudio
- Rodríguez-Hernandez, María A
- Briones, Paz
- Montoya, Julio
- Cortés, Ana
- Emperador, Sonia
- Gavilán, Angela
- Ruiz-Pesini, Eduardo
- Yubero, Dèlia
- Montero, Raquel
- Pineda, Mercedes
- O'Callaghan, María M
- Alcázar-Fabra, María
- Salviati, Leonardo
- Artuch, Rafael
- Navas, Plácido
Producer: 20161031
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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13.
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Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. [electronic resource] by
- Serrano, Mercedes
- García-Silva, María Teresa
- Martin-Hernandez, Elena
- O'Callaghan, Maria del Mar
- Quijada, Pilar
- Martinez-Aragón, Ana
- Ormazábal, Aida
- Blázquez, Alberto
- Martín, Miguel A
- Briones, Paz
- López-Gallardo, Ester
- Ruiz-Pesini, Eduardo
- Montoya, Julio
- Artuch, Rafael
- Pineda, Mercedes
Producer: 20101123
In:
Mitochondrion vol. 10
Availability: No items available.
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14.
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Plasma coenzyme Q [electronic resource] by
- Montero, Raquel
- Yubero, Delia
- Salgado, Maria C
- González, María Julieta
- Campistol, Jaume
- O'Callaghan, Maria Del Mar
- Pineda, Mercè
- Delgadillo, Verónica
- Maynou, Joan
- Fernandez, Guerau
- Montoya, Julio
- Ruiz-Pesini, Eduardo
- Meavilla, Silvia
- Neergheen, Viruna
- García-Cazorla, Angels
- Navas, Placido
- Hargreaves, Iain
- Artuch, Rafael
Producer: 20200721
In:
Scientific reports vol. 9
Availability: No items available.
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15.
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Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome. [electronic resource] by
- Emperador, Sonia
- Garrido-Pérez, Nuria
- Amezcua-Gil, Javier
- Gaudó, Paula
- Andrés-Sanz, Julio Alberto
- Yubero, Delia
- Fernández-Marmiesse, Ana
- O'Callaghan, Maria M
- Ortigoza-Escobar, Juan D
- Iriondo, Marti
- Ruiz-Pesini, Eduardo
- García-Cazorla, Angels
- Gil-Campos, Mercedes
- Artuch, Rafael
- Montoya, Julio
- Bayona-Bafaluy, María Pilar
Publication details: Frontiers in genetics 2019
In:
Frontiers in genetics vol. 10
Availability: No items available.
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16.
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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease. [electronic resource] by
- Jou, Cristina
- Ortigoza-Escobar, Juan D
- O'Callaghan, Maria M
- Nascimento, Andres
- Darling, Alejandra
- Pias-Peleteiro, Leticia
- Perez-Dueñas, Belén
- Pineda, Mercedes
- Codina, Anna
- Arjona, César
- Armstrong, Judith
- Palau, Francesc
- Ribes, Antonia
- Gort, Laura
- Tort, Frederic
- Navas, Placido
- Ruiz-Pesini, Eduardo
- Emperador, Sonia
- Lopez-Gallardo, Ester
- Bayona-Bafaluy, Pilar
- Montero, Raquel
- Jimenez-Mallebrera, Cecilia
- Garcia-Cazorla, Angels
- Montoya, Julio
- Yubero, Delia
- Artuch, Rafael
Publication details: Journal of clinical medicine Jan 2019
In:
Journal of clinical medicine vol. 8
Availability: No items available.
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17.
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Selective elimination of mitochondrial mutations in the germline by genome editing. [electronic resource] by
- Reddy, Pradeep
- Ocampo, Alejandro
- Suzuki, Keiichiro
- Luo, Jinping
- Bacman, Sandra R
- Williams, Sion L
- Sugawara, Atsushi
- Okamura, Daiji
- Tsunekawa, Yuji
- Wu, Jun
- Lam, David
- Xiong, Xiong
- Montserrat, Nuria
- Esteban, Concepcion Rodriguez
- Liu, Guang-Hui
- Sancho-Martinez, Ignacio
- Manau, Dolors
- Civico, Salva
- Cardellach, Francesc
- Del Mar O'Callaghan, Maria
- Campistol, Jaime
- Zhao, Huimin
- Campistol, Josep M
- Moraes, Carlos T
- Izpisua Belmonte, Juan Carlos
Producer: 20150706
In:
Cell vol. 161
Availability: No items available.
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18.
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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. [electronic resource] by
- Andrade-Campos, Marcio
- Alfonso, Pilar
- Irun, Pilar
- Armstrong, Judith
- Calvo, Carmen
- Dalmau, Jaime
- Domingo, Maria-Rosario
- Barbera, Jose-Luis
- Cano, Horacio
- Fernandez-Galán, Maria-Angeles
- Franco, Rafael
- Gracia, Inmaculada
- Gracia-Antequera, Miguel
- Ibañez, Angela
- Lendinez, Francisco
- Madruga, Marcos
- Martin-Hernández, Elena
- O'Callaghan, Maria Del Mar
- Del Soto, Alberto Pérez
- Del Prado, Yolanda Ruiz
- Sancho-Val, Ignacio
- Sanjurjo, Pablo
- Pocovi, Miguel
- Giraldo, Pilar
Producer: 20180228
In:
Orphanet journal of rare diseases vol. 12
Availability: No items available.
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19.
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Clinical presentation and proteomic signature of patients with TANGO2 mutations. [electronic resource] by
- Mingirulli, Nadja
- Pyle, Angela
- Hathazi, Denisa
- Alston, Charlotte L
- Kohlschmidt, Nicolai
- O'Grady, Gina
- Waddell, Leigh
- Evesson, Frances
- Cooper, Sandra B T
- Turner, Christian
- Duff, Jennifer
- Topf, Ana
- Yubero, Delia
- Jou, Cristina
- Nascimento, Andrés
- Ortez, Carlos
- García-Cazorla, Angels
- Gross, Claudia
- O'Callaghan, Maria
- Santra, Saikat
- Preece, Maryanne A
- Champion, Michael
- Korenev, Sergei
- Chronopoulou, Efsthatia
- Anirban, Majumdar
- Pierre, Germaine
- McArthur, Daniel
- Thompson, Kyle
- Navas, Placido
- Ribes, Antonia
- Tort, Frederic
- Schlüter, Agatha
- Pujol, Aurora
- Montero, Raquel
- Sarquella, Georgia
- Lochmüller, Hanns
- Jiménez-Mallebrera, Cecilia
- Taylor, Robert W
- Artuch, Rafael
- Kirschner, Janbernd
- Grünert, Sarah C
- Roos, Andreas
- Horvath, Rita
Producer: 20210702
In:
Journal of inherited metabolic disease vol. 43
Availability: No items available.
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