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Human Mutation
|
December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications
Claudia Castiglioni, François Feillet, Christine Barnerias, et al.
Science Advances
|
August 23, 2024
Early science and colossal stone engineering in Menga, a Neolithic dolmen (Antequera, Spain)
José Antonio Lozano Rodríguez, Leonardo García Sanjuán, Francisco J Jiménez-Espejo, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie
|
September 10, 2021
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up
Abraham J Paredes-Fuentes, Sergi Cesar, Raquel Montero, et al.
Scientific Reports
|
December 1, 2023
The provenance of the stones in the Menga dolmen reveals one of the greatest engineering feats of the Neolithic
José Antonio Lozano Rodríguez, Leonardo García Sanjuán, Antonio M Álvarez-Valero, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 1, 2008
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up
Mercè Pineda, Javier Arpa, Raquel Montero, et al.
Neurogenetics
|
May 29, 2012
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
María del Mar O'Callaghan, Sonia Emperador, Ester López-Gallardo, et al.
Mitochondrion
|
March 14, 2015
Mutation loads in different tissues from six pathogenic mtDNA point mutations
María M O'Callaghan, Sonia Emperador, Mercè Pineda, et al.
Clinical Biochemistry
|
December 20, 2008
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report
Raquel Montero, Jose A Sánchez-Alcázar, Paz Briones, et al.
Journal of Medical Genetics
|
November 23, 2018
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, et al.
Molecular Medicine (Cambridge, Mass.)
|
November 10, 2015
BACE-1, PS-1 and sAPPβ Levels Are Increased in Plasma from Sporadic Inclusion Body Myositis Patients: Surrogate Biomarkers among Inflammatory Myopathies
Marc Catalán-García, Glòria Garrabou, Constanza Morén, et al.
Page
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Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Human Mutation
|
December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications
Claudia Castiglioni, François Feillet, Christine Barnerias, et al.
Science Advances
|
August 23, 2024
Early science and colossal stone engineering in Menga, a Neolithic dolmen (Antequera, Spain)
José Antonio Lozano Rodríguez, Leonardo García Sanjuán, Francisco J Jiménez-Espejo, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie
|
September 10, 2021
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up
Abraham J Paredes-Fuentes, Sergi Cesar, Raquel Montero, et al.
Scientific Reports
|
December 1, 2023
The provenance of the stones in the Menga dolmen reveals one of the greatest engineering feats of the Neolithic
José Antonio Lozano Rodríguez, Leonardo García Sanjuán, Antonio M Álvarez-Valero, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 1, 2008
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up
Mercè Pineda, Javier Arpa, Raquel Montero, et al.
Neurogenetics
|
May 29, 2012
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
María del Mar O'Callaghan, Sonia Emperador, Ester López-Gallardo, et al.
Mitochondrion
|
March 14, 2015
Mutation loads in different tissues from six pathogenic mtDNA point mutations
María M O'Callaghan, Sonia Emperador, Mercè Pineda, et al.
Clinical Biochemistry
|
December 20, 2008
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report
Raquel Montero, Jose A Sánchez-Alcázar, Paz Briones, et al.
Journal of Medical Genetics
|
November 23, 2018
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, et al.
Molecular Medicine (Cambridge, Mass.)
|
November 10, 2015
BACE-1, PS-1 and sAPPβ Levels Are Increased in Plasma from Sporadic Inclusion Body Myositis Patients: Surrogate Biomarkers among Inflammatory Myopathies
Marc Catalán-García, Glòria Garrabou, Constanza Morén, et al.
Page
of 6