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Lucía Spangenberg

Showing results (11-20 of 30) with videos related to

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Molecular Genetics & Genomic Medicine|March 22, 2021
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear causeLucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, et al.
Journal of Medical Case Reports|August 20, 2025
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case reportVíctor Raggio, Andrea Rey, Camila Simoes, et al.
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Two mutations in the <i>SBDS</i> gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptomsMaría Noel Spangenberg, Sofia Grille, Camila Simoes, et al.
Frontiers in Molecular Biosciences|February 21, 2024
Alternative polyadenylation and dynamic 3' UTR length is associated with polysome recruitment throughout the cardiomyogenic differentiation of hESCsAruana F F Hansel-Frose, Jens Allmer, Marcel Friedrichs, et al.
Journal of the Endocrine Society|July 26, 2021
CBG Montevideo: A Clinically Novel <i>SERPINA6</i> Mutation Leading to Haploinsufficiency of Corticosteroid-binding GlobulinEmily Jane Meyer, Lucía Spangenberg, Maria José Ramírez, et al.
BMC Pediatrics|September 13, 2022
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case reportCamila Simoes, Martín Graña, Soledad Rodriguez, et al.
Msphere|June 16, 2016
Transcriptome Sequencing Reveals Wide Expression Reprogramming of Basal and Unknown Genes in Leptospira biflexa BiofilmsGregorio Iraola, Lucía Spangenberg, Bruno Lopes Bastos, et al.
Frontiers in Pediatrics|May 16, 2024
Two compound heterozygous variants in the <i>CLN8</i> gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case reportFederico Baltar, Camila Simoes, Francisco Garagorry, et al.
Mitochondrion|September 19, 2018
Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological diseaseLucía Spangenberg, Martín Graña, Santiago Mansilla, et al.
Frontiers in Oncology|October 2, 2023
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a <i>NFKB2</i> gene mutationMaría Noel Spangenberg, Sofía Grille, Camila Simoes, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Molecular Genetics & Genomic Medicine|March 22, 2021
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear causeLucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, et al.
Journal of Medical Case Reports|August 20, 2025
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case reportVíctor Raggio, Andrea Rey, Camila Simoes, et al.
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Two mutations in the <i>SBDS</i> gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptomsMaría Noel Spangenberg, Sofia Grille, Camila Simoes, et al.
Frontiers in Molecular Biosciences|February 21, 2024
Alternative polyadenylation and dynamic 3' UTR length is associated with polysome recruitment throughout the cardiomyogenic differentiation of hESCsAruana F F Hansel-Frose, Jens Allmer, Marcel Friedrichs, et al.
Journal of the Endocrine Society|July 26, 2021
CBG Montevideo: A Clinically Novel <i>SERPINA6</i> Mutation Leading to Haploinsufficiency of Corticosteroid-binding GlobulinEmily Jane Meyer, Lucía Spangenberg, Maria José Ramírez, et al.
BMC Pediatrics|September 13, 2022
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case reportCamila Simoes, Martín Graña, Soledad Rodriguez, et al.
Msphere|June 16, 2016
Transcriptome Sequencing Reveals Wide Expression Reprogramming of Basal and Unknown Genes in Leptospira biflexa BiofilmsGregorio Iraola, Lucía Spangenberg, Bruno Lopes Bastos, et al.
Frontiers in Pediatrics|May 16, 2024
Two compound heterozygous variants in the <i>CLN8</i> gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case reportFederico Baltar, Camila Simoes, Francisco Garagorry, et al.
Mitochondrion|September 19, 2018
Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological diseaseLucía Spangenberg, Martín Graña, Santiago Mansilla, et al.
Frontiers in Oncology|October 2, 2023
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a <i>NFKB2</i> gene mutationMaría Noel Spangenberg, Sofía Grille, Camila Simoes, et al.
Pageof 3