E-LIB Suche - Ergebnisse für: Engwerda, Aafke

1

The phenotypic spectrum of terminal 6q deletions based on a..:

Engwerda, Aafke ; Kerstjens-Frederikse, Wilhelmina S. ; Corsten-Janssen, Nicole..
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

2

Parent-reported phenotype data on chromosome 6 aberrations ..:

Engwerda, Aafke ; Frentz, Barbara ; Rraku, Eleana...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

3

The phenotypic spectrum of terminal and subterminal 6p dele..:

Rraku, Eleana ; Kerstjens-Frederikse, Wilhelmina S. ; Swertz, Morris A....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

4

The role of TBX18 in congenital heart defects in humans not..:

Engwerda, Aafke ; Abbott, Kristin M. ; Hitzert, Marrit M...
European Journal of Human Genetics. 31 (2022) 2 - p. 138-141 , 2022

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

5

TAB2 deletions and variants cause a highly recognisable syn..:

Engwerda, Aafke ; Leenders, Erika K. S. M. ; Frentz, Barbara...
European Journal of Human Genetics. 29 (2021) 11 - p. 1669-1676 , 2021

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

6

EPHA7haploinsufficiency is associated with a neurodevelopme..:

Lévy, Jonathan ; Schell, Bérénice ; Nasser, Hala...
Clinical Genetics. 100 (2021) 4 - p. 396-404 , 2021

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

7

The phenotypic spectrum of proximal 6q deletions based on a..:

Engwerda, Aafke ; Frentz, Barbara ; den Ouden, A. Lya...
European Journal of Human Genetics. 26 (2018) 10 - p. 1478-1489 , 2018

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

8

The Chromosome 6 Project:a proof of concept for using paren..:

Engwerda, Aafke
https://research.rug.nl/en/publications/4b08b258-bec0-456d-aecc-7e735d3d892b. , 2024

Link: https://hdl.handle.net/1..

9

The phenotypic spectrum of terminal and subterminal 6p dele..:

Rraku, Eleana ; Kerstjens-Frederikse, Wilhelmina S ; Swertz, Morris A...
https://research.rug.nl/en/publications/8d289965-a30f-42c8-825b-1e4f182e7ffd. , 2023

Link: https://hdl.handle.net/1..

10

The phenotypic spectrum of terminal 6q deletions based on a..:

Engwerda, Aafke ; Kerstjens-Frederikse, Wilhelmina S ; Corsten-Janssen, Nicole..
https://research.rug.nl/en/publications/06746e43-6250-44a3-b883-ad7b6169bc30. , 2023

Link: https://hdl.handle.net/1..

11

The role of TBX18 in congenital heart defects in humans not..:

Engwerda, Aafke ; Abbott, Kristin M ; Hitzert, Marrit M..
https://research.rug.nl/en/publications/082fc8b0-b1d5-4703-910a-2f5acba2fba9. , 2023

Link: https://hdl.handle.net/1..

12

Parent-reported phenotype data on chromosome 6 aberrations ..:

Engwerda, Aafke ; Frentz, Barbara ; Rraku, Eleana...
https://research.rug.nl/en/publications/ca585ffa-b9ca-4f7a-b383-391628b27bee. , 2023

Link: https://hdl.handle.net/1..

13

Parent-reported phenotype data on chromosome 6 aberrations ..:

Engwerda, Aafke ; Frentz, Barbara ; Rraku, Eleana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024830/. , 2023

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

14

The phenotypic spectrum of terminal 6q deletions based on a..:

Engwerda, Aafke ; Kerstjens-Frederikse, Wilhelmina S ; Corsten-Janssen, Nicole..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024851/. , 2023

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

15

The phenotypic spectrum of terminal and subterminal 6p dele..:

Rraku, Eleana ; Kerstjens-Frederikse, Wilhelmina S ; Swertz, Morris A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039519/. , 2023

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