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Irene Valenzuela

Showing results (11-20 of 102) with videos related to

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American Journal of Medical Genetics. Part A|January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variantJose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
American Journal of Medical Genetics. Part A|December 11, 2021
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez-Montanez, et al.
European Journal of Medical Genetics|August 24, 2023
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patientsRoger Esmel-Vilomara, Irene Valenzuela, Lucía Riaza, et al.
European Journal of Medical Genetics|July 17, 2017
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literatureIrene Valenzuela, Susana Boronat, Elena Martínez-Sáez, et al.
European Journal of Medical Genetics|January 9, 2018
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)Irene Valenzuela, Paula Fernández-Alvarez, Alberto Plaja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et alAnna Ma Cueto-González, Paula Fernández-Álvarez, Irene Valenzuela Palafoll, et al.
Prenatal Diagnosis|September 14, 2020
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospitalMaddalena Santirocco, Alberto Plaja, Carlota Rodó, et al.
Diagnostics (Basel, Switzerland)|July 14, 2023
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case ReportBetina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
International Journal of Cardiology|October 30, 2012
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2Marjolijn Renard, Bert Callewaert, Fransiska Malfait, et al.
Pageof 11

Showing results (11-20 of 102) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variantJose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
American Journal of Medical Genetics. Part A|December 11, 2021
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez-Montanez, et al.
European Journal of Medical Genetics|August 24, 2023
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patientsRoger Esmel-Vilomara, Irene Valenzuela, Lucía Riaza, et al.
European Journal of Medical Genetics|July 17, 2017
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literatureIrene Valenzuela, Susana Boronat, Elena Martínez-Sáez, et al.
European Journal of Medical Genetics|January 9, 2018
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)Irene Valenzuela, Paula Fernández-Alvarez, Alberto Plaja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et alAnna Ma Cueto-González, Paula Fernández-Álvarez, Irene Valenzuela Palafoll, et al.
Prenatal Diagnosis|September 14, 2020
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospitalMaddalena Santirocco, Alberto Plaja, Carlota Rodó, et al.
Diagnostics (Basel, Switzerland)|July 14, 2023
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case ReportBetina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
International Journal of Cardiology|October 30, 2012
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2Marjolijn Renard, Bert Callewaert, Fransiska Malfait, et al.
Pageof 11