E-LIB Suche - Ergebnisse für: Mastantuono, Elisa

1

Cell cycle defects underlie childhood-onset cardiomyopathy ..:

Meier, Anna B. ; Raj Murthi, Sarala ; Rawat, Hilansi...
iScience. 25 (2022) 1 - p. 103596 , 2022

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

2

There is more to it than just congenital heart defects – Th..:

Westphal, Dominik S. ; Mastantuono, Elisa ; Seidel, Heide...
Gene. 814 (2022) - p. 146167 , 2022

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

3

Sequential Defects in Cardiac Lineage Commitment and Matura..:

Krane, Markus ; Dreßen, Martina ; Santamaria, Gianluca...
Circulation. 144 (2021) 17 - p. 1409-1428 , 2021

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

4

Genetic Basis of Mitochondrial Cardiomyopathy:

, In: Genetic Causes of Cardiac Disease; Cardiac and Vascular Biology,

Mastantuono, Elisa ; Wolf, Cordula Maria ; Prokisch, Holger - p. 93-139 , 2019

Link: https://doi.org/10.1007/..

5

Whole exome sequencing (WES) to elucidate the molecular bas..:

Mastantuono, Elisa , 2018

Link: http://nbn-resolving.de/..

6

A Homozygous Splice Site Mutation in SLC25A42, Encoding the..:

, In: JIMD Reports; JIMD Reports, Volume 44,

Iuso, Arcangela ; Alhaddad, Bader ; Weigel, Corina... - p. 1-7 , 2018

Link: https://doi.org/10.1007/..

7

Interplay of cell–cell contacts and RhoA/MRTF‐A signaling r..:

Dorn, Tatjana ; Kornherr, Jessica ; Parrotta, Elvira I...
The EMBO Journal. 37 (2018) 12 - p. , 2018

Link: https://doi.org/10.15252..

8

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M. ; Mastantuono, Elisa ; Alston, Charlotte L....
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

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

9

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood..:

Feichtinger, René G. ; Oláhová, Monika ; Kishita, Yoshihito...
The American Journal of Human Genetics. 101 (2017) 4 - p. 525-538 , 2017

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

10

The genetics underlying acquired long QT syndrome: impact f..:

Itoh, Hideki ; Crotti, Lia ; Aiba, Takeshi...
European Heart Journal. 37 (2015) 18 - p. 1456-1464 , 2015

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

11

Sudden Infant Death Syndrome and Cardiac Channelopathies: F..:

Insolia, Roberto ; Ghidoni, Alice ; Dossena, Cinzia..
Cardiogenetics. 1 (2011) 11 - p. e6 , 2011

Link: https://doi.org/10.4081/..

12

Congenital heart disease risk loci identified by genome-wid..:

Lahm, Harald ; Jia, Meiwen ; Dreßen, Martina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810487/. , 2021

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

13

Sequential Defects in Cardiac Lineage Commitment and Matura..:

Krane, Markus ; Dreßen, Martina ; Santamaria, Gianluca...
https://mediatum.ub.tum.de/1639718. , 2021

Link: https://mediatum.ub.tum...

14

Cell cycle defects underlie childhood-onset cardiomyopathy ..:

Meier, Anna B ; Raj Murthi, Sarala ; Rawat, Hilansi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8704485/. , 2021

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

15

Sequential Defects in Cardiac Lineage Commitment and Matura..:

Krane, Markus ; Dreßen, Martina ; Santamaria, Gianluca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542085/. , 2021

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