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Scientific Reports
|
July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Cell Reports
|
June 21, 2018
Comprehensive Quantification of the Modified Proteome Reveals Oxidative Heart Damage in Mitochondrial Heteroplasmy
Navratan Bagwan, Elena Bonzon-Kulichenko, Enrique Calvo, et al.
Frontiers in Genetics
|
October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndrome
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, et al.
Behavioral Sciences (Basel, Switzerland)
|
February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives
Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
Cell Metabolism
|
May 27, 2014
ROS-triggered phosphorylation of complex II by Fgr kinase regulates cellular adaptation to fuel use
Rebeca Acín-Pérez, Isabel Carrascoso, Francesc Baixauli, et al.
Journal of Chemotherapy (Florence, Italy)
|
December 25, 2018
An Observational Study of the Efficacy and Safety of Voriconazole in a Real-Life Clinical Setting
Sara Blanco-Dorado, Cristina Cea-Arestin, Alba González Carballo, et al.
Communications Biology
|
January 9, 2025
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity
José Luis Cabrera-Alarcon, Raquel Cruz, Marina Rosa-Moreno, et al.
The International Journal of Cardiovascular Imaging
|
November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 25, 2026
The Long-term Pneumonia Mortality Index. An International Multicenter Derivation and Validation Study for Patients with Community-Acquired Pneumonia
Raúl Méndez, Paula González-Jiménez, Ana Latorre, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 63) with videos related to
Sort By:
Page
of 7
Scientific Reports
|
July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Cell Reports
|
June 21, 2018
Comprehensive Quantification of the Modified Proteome Reveals Oxidative Heart Damage in Mitochondrial Heteroplasmy
Navratan Bagwan, Elena Bonzon-Kulichenko, Enrique Calvo, et al.
Frontiers in Genetics
|
October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndrome
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, et al.
Behavioral Sciences (Basel, Switzerland)
|
February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives
Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
Cell Metabolism
|
May 27, 2014
ROS-triggered phosphorylation of complex II by Fgr kinase regulates cellular adaptation to fuel use
Rebeca Acín-Pérez, Isabel Carrascoso, Francesc Baixauli, et al.
Journal of Chemotherapy (Florence, Italy)
|
December 25, 2018
An Observational Study of the Efficacy and Safety of Voriconazole in a Real-Life Clinical Setting
Sara Blanco-Dorado, Cristina Cea-Arestin, Alba González Carballo, et al.
Communications Biology
|
January 9, 2025
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity
José Luis Cabrera-Alarcon, Raquel Cruz, Marina Rosa-Moreno, et al.
The International Journal of Cardiovascular Imaging
|
November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 25, 2026
The Long-term Pneumonia Mortality Index. An International Multicenter Derivation and Validation Study for Patients with Community-Acquired Pneumonia
Raúl Méndez, Paula González-Jiménez, Ana Latorre, et al.
Page
of 7