E-LIB Suche - Ergebnisse für: Guo, Dongchuan

1

Bicuspid Aortic Valve Disease with Early-Onset Complication..:

Selbst, Maximilian A. ; Ward, Colin R. ; Svetgoff, Megan L....
Hearts. 5 (2024) 3 - p. 253-258 , 2024

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

2

Differentiation between descending thoracic aortic diseases..:

Momenzadeh, Amanda ; Kreimer, Simion ; Guo, Dongchuan...
Clinical Proteomics. 21 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

X‐linked genetic associations in sporadic thoracic aortic d..:

Musfee, Fadi I. ; Jun, Goo ; Mitchell, Laura E....
American Journal of Medical Genetics Part A. , 2024

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

4

SAMHD1 compound heterozygous rare variants associated with ..:

Karla, Aamuktha R. ; Pinard, Amélie ; Boerio, Maura L....
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

5

P255: RNA-sequencing for diagnosis and novel gene discovery..:

Murdock, David ; Cecchi, Alana ; Guo, Dongchuan...
Genetics in Medicine Open. 1 (2023) 1 - p. 100283 , 2023

Link: https://doi.org/10.1016/..

6

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/..

7

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/..

8

Genome-wide association study of thoracic aortic aneurysm a..:

Klarin, Derek ; Devineni, Poornima ; Sendamarai, Anoop K....
Nature Genetics. 55 (2023) 7 - p. 1106-1115 , 2023

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

9

Identification of a common polymorphism in COQ8B acting as ..:

Landis, Benjamin J. ; Lai, Dongbing ; Guo, Dong-Chuan...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100057 , 2022

Link: https://doi.org/10.1016/..

10

Mosaicism for the smooth muscle cell (SMC)-specific knock-i..:

Kaw, Anita ; Pedroza, Albert J. ; Chattopadhyay, Abhijnan...
Journal of Molecular and Cellular Cardiology. 171 (2022) - p. 102-104 , 2022

Link: https://doi.org/10.1016/..

11

Germline variants in HEY2 functional domains lead to congen..:

van Walree, Eva S. ; Dombrowsky, Gregor ; Jansen, Iris E....
Genetics in Medicine. 24 (2022) 4 - p. 965 , 2022

Link: https://doi.org/10.1016/..

12

Proteomic analysis of descending thoracic aorta identifies ..:

Saddic, Louis ; Orosco, Amanda ; Guo, Dongchuan...
JVS-Vascular Science. 3 (2022) - p. 85-181 , 2022

Link: https://doi.org/10.1016/..

13

Germline variants in HEY2 functional domains lead to congen..:

van Walree, Eva S. ; Dombrowsky, Gregor ; Jansen, Iris E....
Genetics in Medicine. 23 (2021) 1 - p. 103-110 , 2021

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

14

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 pr..:

Elbitar, Sandy ; Renard, Marjolijn ; Arnaud, Pauline...
Genetics in Medicine. 23 (2021) 1 - p. 111-122 , 2021

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

15

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/..