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Maria Isabel Alvarez-Mora

Showing results (21-30 of 29) with videos related to

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Frontiers in Aging Neuroscience|January 23, 2023
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndromeAndrea Elias-Mas, Miriam Potrony, Jaume Bague, et al.
Journal of Clinical Medicine|July 9, 2022
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature ReviewMiriam Potrony, Antoni Borrell, Narcís Masoller, et al.
Frontiers in Molecular Neuroscience|June 22, 2026
Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysisAndrea Elias-Mas, Esther Granell Moreno, Cèlia Painous Martí, et al.
NPJ Genomic Medicine|January 17, 2025
Germline structural variant as the cause of Lynch Syndrome in a family from EcuadorGemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, et al.
Genes|September 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of <i>FMR1</i> Gene: Case Report and Literature ReviewMaria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, et al.
Cancers|November 27, 2024
Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter StudyJoan Llach, Irina Luzko, Julie Earl, et al.
International Journal of Molecular Sciences|April 23, 2022
Heterozygous and Homozygous Variants in <i>SORL1</i> Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological FindingsMaria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, et al.
Genes|April 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier TestAna Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, et al.
Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Frontiers in Aging Neuroscience|January 23, 2023
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndromeAndrea Elias-Mas, Miriam Potrony, Jaume Bague, et al.
Journal of Clinical Medicine|July 9, 2022
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature ReviewMiriam Potrony, Antoni Borrell, Narcís Masoller, et al.
Frontiers in Molecular Neuroscience|June 22, 2026
Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysisAndrea Elias-Mas, Esther Granell Moreno, Cèlia Painous Martí, et al.
NPJ Genomic Medicine|January 17, 2025
Germline structural variant as the cause of Lynch Syndrome in a family from EcuadorGemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, et al.
Genes|September 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of <i>FMR1</i> Gene: Case Report and Literature ReviewMaria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, et al.
Cancers|November 27, 2024
Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter StudyJoan Llach, Irina Luzko, Julie Earl, et al.
International Journal of Molecular Sciences|April 23, 2022
Heterozygous and Homozygous Variants in <i>SORL1</i> Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological FindingsMaria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, et al.
Genes|April 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier TestAna Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, et al.
Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.
Pageof 3