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M Bertoli

Showing results (111-120 of 168) with videos related to

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Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Circulation Research|July 23, 2011
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysmsEllen S Regalado, Dong-Chuan Guo, Carlos Villamizar, et al.
Human Reproduction (Oxford, England)|March 9, 2021
Do we trust scientific evidence? A multicentre retrospective analysis of first IVF/ICSI cycles before and after the OPTIMIST trialE Papaleo, A Revelli, M Costa, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstructionMarja W Wessels, Ingrid M B H van de Laar, Jolien Roos-Hesselink, et al.
NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.
European Journal of Human Genetics : EJHG|February 17, 2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disabilityAida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1Glen R Monroe, Magdalena Harakalova, Saskia N van der Crabben, et al.
Scientific Reports|July 6, 2026
Integrated chemical and genomic analysis of lipopeptides produced by Bacillus velezensis CMRP4489 with antifungal activityMaria Luiza A Jesus-Nicoletto, Julia P Baptista, Sandriele A Noriler, et al.
Clinical Genetics|February 2, 2018
Expanding the clinical and genetic spectra of NKX6-2-related disorderC Baldi, A M Bertoli-Avella, N Al-Sannaa, et al.
American Journal of Medical Genetics. Part A|November 9, 2020
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literatureMimi Tin-Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, et al.
Pageof 17

Showing results (111-120 of 168) with videos related to

Sort By:
Pageof 17
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Circulation Research|July 23, 2011
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysmsEllen S Regalado, Dong-Chuan Guo, Carlos Villamizar, et al.
Human Reproduction (Oxford, England)|March 9, 2021
Do we trust scientific evidence? A multicentre retrospective analysis of first IVF/ICSI cycles before and after the OPTIMIST trialE Papaleo, A Revelli, M Costa, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstructionMarja W Wessels, Ingrid M B H van de Laar, Jolien Roos-Hesselink, et al.
NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.
European Journal of Human Genetics : EJHG|February 17, 2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disabilityAida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1Glen R Monroe, Magdalena Harakalova, Saskia N van der Crabben, et al.
Scientific Reports|July 6, 2026
Integrated chemical and genomic analysis of lipopeptides produced by Bacillus velezensis CMRP4489 with antifungal activityMaria Luiza A Jesus-Nicoletto, Julia P Baptista, Sandriele A Noriler, et al.
Clinical Genetics|February 2, 2018
Expanding the clinical and genetic spectra of NKX6-2-related disorderC Baldi, A M Bertoli-Avella, N Al-Sannaa, et al.
American Journal of Medical Genetics. Part A|November 9, 2020
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literatureMimi Tin-Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, et al.
Pageof 17