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Camila Simoes

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Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 2, 2017
Primary gastric small cell carcinomaMohammad Bilal, Camila Simoes, Muhannad Al-Hanayneh, et al.
Journal of Histotechnology|October 1, 2020
Keratin 19 and mesenchymal markers for evaluation of epithelial-mesenchymal transition and stem cell niche components in primary biliary cholangitis by sequential elution-stripping multiplex immunohistochemistryJohn David Paulsen, Briana Zeck, Katherine Sun, 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.
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.
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.
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.
Orphanet Journal of Rare Diseases|June 25, 2026
Implementation of a medical genomics program for rare diseases in UruguayCamila Simoes, María Fernanda Domínguez, Soledad Rodriguez, et al.
Human Genomics|May 11, 2021
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery diseaseVíctor Raggio, Nicolas Dell'Oca, Camila Simoes, et al.
Human Genomics|February 28, 2023
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathyVíctor Raggio, Martín Graña, Erik Winiarski, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 2, 2017
Primary gastric small cell carcinomaMohammad Bilal, Camila Simoes, Muhannad Al-Hanayneh, et al.
Journal of Histotechnology|October 1, 2020
Keratin 19 and mesenchymal markers for evaluation of epithelial-mesenchymal transition and stem cell niche components in primary biliary cholangitis by sequential elution-stripping multiplex immunohistochemistryJohn David Paulsen, Briana Zeck, Katherine Sun, 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.
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.
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.
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.
Orphanet Journal of Rare Diseases|June 25, 2026
Implementation of a medical genomics program for rare diseases in UruguayCamila Simoes, María Fernanda Domínguez, Soledad Rodriguez, et al.
Human Genomics|May 11, 2021
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery diseaseVíctor Raggio, Nicolas Dell'Oca, Camila Simoes, et al.
Human Genomics|February 28, 2023
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathyVíctor Raggio, Martín Graña, Erik Winiarski, et al.
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