E-LIB Suche - Ergebnisse für: Cecchi, Alana C.

1

An FBN1 deep intronic variant is associated with pseudoexon..:

Guo, Dong‐chuan ; Duan, Xueyan ; Mimnagh, Kathleen...
Clinical Genetics. 103 (2023) 6 - p. 704-708 , 2023

Link: https://doi.org/10.1111/..

2

Rare variants in ANO1, encoding a calcium-activated chlorid..:

Pinard, Amélie ; Ye, Wenlei ; Fraser, Stuart M...
Brain. 146 (2023) 9 - p. 3616-3623 , 2023

Link: https://doi.org/10.1093/..

3

Risk Factors for Thoracic Aortic Dissection:

Zhou, Zhen ; Cecchi, Alana C. ; Prakash, Siddharth K..
Genes. 13 (2022) 10 - p. 1814 , 2022

Link: https://doi.org/10.3390/..

4

Preventing Acute Aortic Dissections: The Power of Familial ..:

Cecchi, Alana C. ; Boerio, Maura L. ; Marin, Isabella..
Journal of the American Heart Association. 11 (2022) 8 - p. , 2022

Link: https://doi.org/10.1161/..

5

Current state and future directions of genomic medicine in ..:

Cecchi, Alana C. ; Drake, Madeline ; Campos, Chrisanne...
Seminars in Vascular Surgery. 35 (2022) 1 - p. 51-59 , 2022

Link: https://doi.org/10.1053/..

6

Association of De NovoRNF213Variants With Childhood Onset M..:

Pinard, Amélie ; Fiander, Maximillian D.J. ; Cecchi, Alana C....
Neurology. 96 (2021) 13 - p. , 2021

Link: https://doi.org/10.1212/..

7

Aortic root dilatation and dilated cardiomyopathy in an adu..:

Cecchi, Alana C. ; Haidar, Amier ; Marin, Isabella...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 628-634 , 2021

Link: https://doi.org/10.1002/..

8

The pleiotropy associated with de novo variants in CHD4, CN..:

Pinard, Amélie ; Guey, Stéphanie ; Guo, Dongchuan...
Genetics in Medicine. 22 (2020) 2 - p. 427-431 , 2020

Link: https://doi.org/10.1038/..

9

Screening for Tay‐Sachs disease carriers by full‐exon seque..:

Cecchi, Alana C. ; Vengoechea, Elizabeth S. ; Kaseniit, Kristjan E....
Molecular Genetics & Genomic Medicine. 7 (2019) 8 - p. , 2019

Link: https://doi.org/10.1002/..

10

Rare variants in ANO1, encoding a calcium-activated chlorid..:

Pinard, Amélie ; Ye, Wenlei ; Fraser, Stuart M...
qt9vx4v2k3. , 2023

Link: https://escholarship.org..

11

Current state and future directions of genomic medicine in ..:

Cecchi, Alana C ; Drake, Madeline ; Campos, Chrisanne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258522/. , 2022

Link: http://www.ncbi.nlm.nih...

12

Risk Factors for Thoracic Aortic Dissection:

Zhou, Zhen ; Cecchi, Alana C ; Prakash, Siddharth K.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602170/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Preventing Acute Aortic Dissections: The Power of Familial ..:

Cecchi, Alana C ; Boerio, Maura L ; Marin, Isabella..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9238455/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Aortic Root Dilatation and Dilated Cardiomyopathy in an Adu..:

Cecchi, Alana C ; Haidar, Amier ; Marin, Isabella...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175539/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Association of De Novo RNF213 Variants With Childhood Onset..:

Pinard, Amélie ; Fiander, Maximillian D.J ; Cecchi, Alana C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055312/. , 2021

Link: http://www.ncbi.nlm.nih...