E-LIB Suche - Ergebnisse für: Anna Wilsdon

1

Effect of deletion of the protein kinase PRKD1 on developme..:

Waheed‐Ullah, Qazi ; Wilsdon, Anna ; Abbad, Aseel...
Journal of Anatomy. 245 (2024) 1 - p. 70-83 , 2024

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

2

Human Genetics of Congenital Heart Defects:

, In: Advances in Experimental Medicine and Biology; Congenital Heart Diseases: The Broken Heart,

Wilsdon, Anna ; Loughna, Siobhan - p. 57-75 , 2024

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

3

Use of genome sequencing to hunt for cryptic second-hit var..:

Moore, A Rachel ; Yu, Jing ; Pei, Yang...
Journal of Medical Genetics. 60 (2023) 12 - p. 1235-1244 , 2023

Link: https://doi.org/10.1136/..

4

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/..

5

Correction: Integrative analysis of genomic variants reveal..:

Audain, Enrique ; Wilsdon, Anna ; Breckpot, Jeroen...
PLOS Genetics. 17 (2021) 9 - p. e1009809 , 2021

Link: https://doi.org/10.1371/..

6

Integrative analysis of genomic variants reveals new associ..:

Audain, Enrique ; Wilsdon, Anna ; Breckpot, Jeroen...
PLOS Genetics. 17 (2021) 7 - p. e1009679 , 2021

Link: https://doi.org/10.1371/..

7

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/..

8

Systems genetics analysis identifies calcium-signaling defe..:

Izarzugaza, Jose M. G. ; Ellesøe, Sabrina G. ; Doganli, Canan...
Genome Medicine. 12 (2020) 1 - p. , 2020

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

9

Recent advances in congenital heart disease genomics:

Wilsdon, Anna ; Sifrim, Alejandro ; Hitz, Marc-Phillip..
F1000Research. 6 (2017) - p. 869 , 2017

Link: https://doi.org/10.12688..

10

Distinct genetic architectures for syndromic and nonsyndrom..:

the INTERVAL Study ; Sifrim, Alejandro ; Hitz, Marc-Phillip...
Nature Genetics. 48 (2016) 9 - p. 1060-1065 , 2016

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

11

An emerging phenotype of Xq22 microdeletions in females wit..:

Yamamoto, Toshiyuki ; Wilsdon, Anna ; Joss, Shelagh...
Journal of Human Genetics. 59 (2014) 6 - p. 300-306 , 2014

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

12

Prenatal diagnosis of single gene disorders:

Wilsdon, Anna ; Eason, Jacqueline
Obstetrics, Gynaecology & Reproductive Medicine. 23 (2013) 1 - p. 20-25 , 2013

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

13

Correction: Integrative analysis of genomic variants reveal..:

Enrique Audain ; Anna Wilsdon ; Jeroen Breckpot...
https://doi.org/10.1371/journal.pgen.1009809. , 2021

Link: https://doi.org/10.1371/..

14

Integrative analysis of genomic variants reveals new associ..:

Enrique Audain ; Anna Wilsdon ; Jeroen Breckpot...
https://doi.org/10.1371/journal.pgen.1009679. , 2021

Link: https://doi.org/10.1371/..

15

Systems genetics analysis identifies calcium-signaling defe..:

Jose M. G. Izarzugaza ; Sabrina G. Ellesøe ; Canan Doganli...
http://link.springer.com/article/10.1186/s13073-020-00772-z. , 2020

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