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Juan Pablo Trujillo

Showing results (1-10 of 22) with videos related to

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Biomed Research International|July 14, 2018
A Novel Heterozygous Intronic Mutation in the <i>FBN1</i> Gene Contributes to <i>FBN1</i> RNA Missplicing Events in the Marfan SyndromeMario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero, et al.
Arquivos Brasileiros De Cardiologia|March 9, 2017
Genetic Evaluation, Familial Screening and ExerciseRicardo Stein, Juan Pablo Trujillo, Anderson Donelli da Silveira, et al.
Revista Espanola De Cardiologia (English Ed.)|May 5, 2019
Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 GeneJesús Piqueras-Flores, Juan Pablo Trujillo-Quintero, Raquel Frías-García, et al.
Revista Espanola De Cardiologia (English Ed.)|April 14, 2018
Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A GenesJuan Pablo Trujillo-Quintero, María Gutiérrez-Agulló, Juan Pablo Ochoa, et al.
Revista Espanola De Cardiologia (English Ed.)|January 22, 2021
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new casesJuan Pablo Trujillo-Quintero, Elisabeth Gabau Vila, José María Larrañaga Moreira, et al.
Revista Espanola De Cardiologia (English Ed.)|June 12, 2019
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 VariantsFrancesca Perin, Juan Pablo Trujillo-Quintero, Juan Jimenez-Jaimez, et al.
Clinical Genetics|February 24, 2025
A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathiesJuan Pablo Trujillo-Quintero, Anna Brunet-Vega, Nino Spataro, et al.
Revista Espanola De Cardiologia (English Ed.)|March 21, 2020
Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletionsMaría Luisa Peña-Peña, Juan Pablo Trujillo-Quintero, Dolores García-Medina, et al.
Revista Espanola De Cardiologia (English Ed.)|January 25, 2017
Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 GeneJuan Pablo Trujillo-Quintero, José María Herrera-Noreña, Víctor X Mosquera-Rodríguez, et al.
Clinical Epigenetics|May 7, 2024
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndromeNeus Baena, David Monk, Cinthia Aguilera, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Biomed Research International|July 14, 2018
A Novel Heterozygous Intronic Mutation in the <i>FBN1</i> Gene Contributes to <i>FBN1</i> RNA Missplicing Events in the Marfan SyndromeMario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero, et al.
Arquivos Brasileiros De Cardiologia|March 9, 2017
Genetic Evaluation, Familial Screening and ExerciseRicardo Stein, Juan Pablo Trujillo, Anderson Donelli da Silveira, et al.
Revista Espanola De Cardiologia (English Ed.)|May 5, 2019
Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 GeneJesús Piqueras-Flores, Juan Pablo Trujillo-Quintero, Raquel Frías-García, et al.
Revista Espanola De Cardiologia (English Ed.)|April 14, 2018
Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A GenesJuan Pablo Trujillo-Quintero, María Gutiérrez-Agulló, Juan Pablo Ochoa, et al.
Revista Espanola De Cardiologia (English Ed.)|January 22, 2021
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new casesJuan Pablo Trujillo-Quintero, Elisabeth Gabau Vila, José María Larrañaga Moreira, et al.
Revista Espanola De Cardiologia (English Ed.)|June 12, 2019
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 VariantsFrancesca Perin, Juan Pablo Trujillo-Quintero, Juan Jimenez-Jaimez, et al.
Clinical Genetics|February 24, 2025
A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathiesJuan Pablo Trujillo-Quintero, Anna Brunet-Vega, Nino Spataro, et al.
Revista Espanola De Cardiologia (English Ed.)|March 21, 2020
Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletionsMaría Luisa Peña-Peña, Juan Pablo Trujillo-Quintero, Dolores García-Medina, et al.
Revista Espanola De Cardiologia (English Ed.)|January 25, 2017
Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 GeneJuan Pablo Trujillo-Quintero, José María Herrera-Noreña, Víctor X Mosquera-Rodríguez, et al.
Clinical Epigenetics|May 7, 2024
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndromeNeus Baena, David Monk, Cinthia Aguilera, et al.
Pageof 3