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Diagnostics (Basel, Switzerland)
|
January 11, 2025
<i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, et al.
Nucleic Acids Research
|
February 8, 2025
NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome
Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, et al.
Nucleic Acids Research
|
February 19, 2025
NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome
Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2014
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, et al.
Molecular Genetics & Genomic Medicine
|
October 1, 2019
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients
Virginia Pérez-Grijalba, Alberto García-Oguiza, María López, et al.
International Journal of Molecular Sciences
|
December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Journal of Inherited Metabolic Disease
|
November 7, 2023
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, et al.
Brain Pathology (Zurich, Switzerland)
|
May 1, 2007
Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study
Isidre Ferrer, Judith Armstrong, Sabina Capellari, et al.
Pediatric Neurology
|
April 24, 2021
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
Daniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, et al.
BMC Pediatrics
|
November 9, 2014
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
Delia Yubero, Mar O'Callaghan, Raquel Montero, et al.
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Search research articles
Search
Showing results (51-60 of 86) with videos related to
Sort By:
Page
of 9
Diagnostics (Basel, Switzerland)
|
January 11, 2025
<i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, et al.
Nucleic Acids Research
|
February 8, 2025
NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome
Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, et al.
Nucleic Acids Research
|
February 19, 2025
NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome
Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2014
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, et al.
Molecular Genetics & Genomic Medicine
|
October 1, 2019
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients
Virginia Pérez-Grijalba, Alberto García-Oguiza, María López, et al.
International Journal of Molecular Sciences
|
December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Journal of Inherited Metabolic Disease
|
November 7, 2023
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, et al.
Brain Pathology (Zurich, Switzerland)
|
May 1, 2007
Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study
Isidre Ferrer, Judith Armstrong, Sabina Capellari, et al.
Pediatric Neurology
|
April 24, 2021
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
Daniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, et al.
BMC Pediatrics
|
November 9, 2014
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
Delia Yubero, Mar O'Callaghan, Raquel Montero, et al.
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of 9