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M Bertoli

Showing results (121-130 of 168) with videos related to

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Molecular Genetics & Genomic Medicine|August 18, 2023
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosisFatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, et al.
Journal of Clinical Medicine|October 26, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 ParticipantsSabine Rösner, Luba M Pardo, Aida M Bertoli-Avella, et al.
Human Genetics|December 22, 2005
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the NetherlandsAida M Bertoli-Avella, Marieke C J Dekker, Yurii S Aulchenko, et al.
Annals of Clinical and Translational Neurology|July 26, 2022
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathyHormos Salimi Dafsari, Joshua G Pemberton, Elizabeth A Ferrer, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Ebiomedicine|October 1, 2016
Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β SignalingI van der Pluijm, N van Vliet, J H von der Thusen, et al.
Genetics in Medicine Open|December 13, 2024
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testingEmir Zonic, Mariana Ferreira, Luba M Pardo, et al.
Medicina|January 22, 2013
[Prevalence of dyslipidemia and elevated cardiovascular risk in patients with rheumatoid arthritis]María Jezabel Haye Salinas, Ana M Bertoli, Luis Lema, et al.
The Annals of Thoracic Surgery|September 4, 2012
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndromeDenise van der Linde, Jos A Bekkers, Francesco U S Mattace-Raso, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Pageof 17

Showing results (121-130 of 168) with videos related to

Sort By:
Pageof 17
Molecular Genetics & Genomic Medicine|August 18, 2023
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosisFatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, et al.
Journal of Clinical Medicine|October 26, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 ParticipantsSabine Rösner, Luba M Pardo, Aida M Bertoli-Avella, et al.
Human Genetics|December 22, 2005
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the NetherlandsAida M Bertoli-Avella, Marieke C J Dekker, Yurii S Aulchenko, et al.
Annals of Clinical and Translational Neurology|July 26, 2022
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathyHormos Salimi Dafsari, Joshua G Pemberton, Elizabeth A Ferrer, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Ebiomedicine|October 1, 2016
Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β SignalingI van der Pluijm, N van Vliet, J H von der Thusen, et al.
Genetics in Medicine Open|December 13, 2024
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testingEmir Zonic, Mariana Ferreira, Luba M Pardo, et al.
Medicina|January 22, 2013
[Prevalence of dyslipidemia and elevated cardiovascular risk in patients with rheumatoid arthritis]María Jezabel Haye Salinas, Ana M Bertoli, Luis Lema, et al.
The Annals of Thoracic Surgery|September 4, 2012
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndromeDenise van der Linde, Jos A Bekkers, Francesco U S Mattace-Raso, et al.
American Journal of Human Genetics|May 11, 2005
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsAlice S Brooks, Aida M Bertoli-Avella, Grzegorz M Burzynski, et al.
Pageof 17