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M Bertoli

Showing results (141-150 of 168) with videos related to

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Journal of Medical Genetics|November 8, 2005
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestorS Goldwurm, A Di Fonzo, E J Simons, et al.
Journal of the American College of Cardiology|May 29, 2012
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variantsDenise van der Linde, Ingrid M B H van de Laar, Aida M Bertoli-Avella, et al.
The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.
Human Mutation|March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsMarlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 8, 2004
Novel parkin mutations detected in patients with early-onset Parkinson's diseaseAida M Bertoli-Avella, José L Giroud-Benitez, Ali Akyol, et al.
Circulation. Genomic and Precision Medicine|August 29, 2019
Biallelic Variants in <i>ASNA1</i>, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric CardiomyopathyJudith M A Verhagen, Myrthe van den Born, Herma C van der Linde, et al.
Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
Pageof 17

Showing results (141-150 of 168) with videos related to

Sort By:
Pageof 17
Journal of Medical Genetics|November 8, 2005
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestorS Goldwurm, A Di Fonzo, E J Simons, et al.
Journal of the American College of Cardiology|May 29, 2012
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variantsDenise van der Linde, Ingrid M B H van de Laar, Aida M Bertoli-Avella, et al.
The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.
Human Mutation|March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsMarlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 8, 2004
Novel parkin mutations detected in patients with early-onset Parkinson's diseaseAida M Bertoli-Avella, José L Giroud-Benitez, Ali Akyol, et al.
Circulation. Genomic and Precision Medicine|August 29, 2019
Biallelic Variants in <i>ASNA1</i>, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric CardiomyopathyJudith M A Verhagen, Myrthe van den Born, Herma C van der Linde, et al.
Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
Circulation Research|May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformationsVanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
Pageof 17