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C Cecchi

Showing results (61-70 of 194) with videos related to

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Clinical Genetics|March 2, 2023
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation familyDong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, et al.
NPJ Genomic Medicine|March 22, 2025
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingDavid R Murdock, Dong-Chuan Guo, John S DePaolo, et al.
Stroke|October 4, 2014
RNF213 rare variants in an ethnically diverse population with Moyamoya diseaseAlana C Cecchi, Dongchuan Guo, Zhao Ren, et al.
Neurology|February 11, 2021
Association of De Novo <i>RNF213</i> Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive VasculopathyAmélie Pinard, Maximillian D J Fiander, Alana C Cecchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathyAmélie Pinard, Stéphanie Guey, Dongchuan Guo, et al.
Research Square|July 1, 2024
The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare ProfessionalsMelyssa Garner, Bansari Rajani, Priyanka Vaidya, et al.
Brain : a Journal of Neurology|May 30, 2023
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya diseaseAmélie Pinard, Wenlei Ye, Stuart M Fraser, et al.
Physical Review Letters|May 7, 2016
Search for Spectral Irregularities due to Photon-Axionlike-Particle Oscillations with the Fermi Large Area TelescopeM Ajello, A Albert, B Anderson, et al.
The Astrophysical Journal|October 14, 2021
<i>Fermi</i> LARGE AREA TELESCOPE OBSERVATIONS OF BLAZAR 3C 279 OCCULTATIONS BY THE SUNG Barbiellini, D Bastieri, K Bechtol, et al.
Physical Review. D. (2016)|August 4, 2020
Measurement of the high-energy gamma-ray emission from the Moon with the Fermi Large Area TelescopeM Ackermann, M Ajello, A Albert, et al.
Pageof 20

Showing results (61-70 of 194) with videos related to

Sort By:
Pageof 20
Clinical Genetics|March 2, 2023
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation familyDong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, et al.
NPJ Genomic Medicine|March 22, 2025
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingDavid R Murdock, Dong-Chuan Guo, John S DePaolo, et al.
Stroke|October 4, 2014
RNF213 rare variants in an ethnically diverse population with Moyamoya diseaseAlana C Cecchi, Dongchuan Guo, Zhao Ren, et al.
Neurology|February 11, 2021
Association of De Novo <i>RNF213</i> Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive VasculopathyAmélie Pinard, Maximillian D J Fiander, Alana C Cecchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathyAmélie Pinard, Stéphanie Guey, Dongchuan Guo, et al.
Research Square|July 1, 2024
The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare ProfessionalsMelyssa Garner, Bansari Rajani, Priyanka Vaidya, et al.
Brain : a Journal of Neurology|May 30, 2023
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya diseaseAmélie Pinard, Wenlei Ye, Stuart M Fraser, et al.
Physical Review Letters|May 7, 2016
Search for Spectral Irregularities due to Photon-Axionlike-Particle Oscillations with the Fermi Large Area TelescopeM Ajello, A Albert, B Anderson, et al.
The Astrophysical Journal|October 14, 2021
<i>Fermi</i> LARGE AREA TELESCOPE OBSERVATIONS OF BLAZAR 3C 279 OCCULTATIONS BY THE SUNG Barbiellini, D Bastieri, K Bechtol, et al.
Physical Review. D. (2016)|August 4, 2020
Measurement of the high-energy gamma-ray emission from the Moon with the Fermi Large Area TelescopeM Ackermann, M Ajello, A Albert, et al.
Pageof 20