E-LIB Suche - Ergebnisse für: Vos, Yvonne J.

1

SEPT–GD: A decision tree to prioritise potential RNA splice..:

Alimohamed, Mohamed Z. ; Boven, Ludolf G. ; van Dijk, Krista K....
Gene. 851 (2023) - p. 146984 , 2023

2

Expanding the clinical spectrum of primary coenzyme Q10 def..:

Leeuwen, Lisette ; Lubout, Charlotte M. A. ; Nijenhuis, Hessel P....
Clinical Genetics. 102 (2022) 4 - p. 350-351 , 2022

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

3

Validation of New Gene Variant Classification Methods: a Fi..:

Alimohamed, Mohamed Z. ; Westers, Helga ; Vos, Yvonne J....
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Uncombable hair syndrome due to maternal uniparental disomy..:

Breet, Hanna ; Vos, Yvonne J. ; Dijkhuizen, Trijnie...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 896-898 , 2022

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

5

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutc..:

Vansenne, Fleur ; Fock, Johanna M. ; Stolte-Dijkstra, Irene...
European Journal of Paediatric Neurology. 41 (2022) - p. 91-98 , 2022

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

6

Case series, chemotherapy-induced cardiomyopathy: mind the ..:

Moghadasi, Setareh ; Fijn, Rienke ; Beeres, Saskia L M A...
European Heart Journal - Case Reports. 5 (2021) 10 - p. , 2021

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

7

Diagnostic yield of targeted next generation sequencing in ..:

Alimohamed, Mohamed Z. ; Johansson, Lennart F. ; Posafalvi, Anna...
International Journal of Cardiology. 332 (2021) - p. 99-104 , 2021

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

8

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/..

9

A homozygous variant in growth and differentiation factor 2..:

Aukema, Sietse M. ; ten Brinke, Gerdien A. ; Timens, Wim...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2152-2160 , 2020

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

10

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hy..:

Haarman, Meindina G. ; Kerstjens-Frederikse, Wilhelmina S. ; Vissia-Kazemier, Theresia R....
The Journal of Pediatrics. 225 (2020) - p. 65-73.e5 , 2020

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

11

De novo variants in CAMTA1 cause a syndrome variably associ..:

Wijnen, Iris G. M. ; Veenstra-Knol, Hermine E. ; Vansenne, Fleur...
European Journal of Human Genetics. 28 (2020) 6 - p. 763-769 , 2020

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

12

An alternative approach to establishing unbiased colorectal..:

Suerink, Manon ; Rodríguez-Girondo, Mar ; van der Klift, Heleen M....
Genetics in Medicine. 21 (2019) 12 - p. 2706-2712 , 2019

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

13

Improving the diagnostic yield of exome- sequencing by pred..:

Deelen, Patrick ; van Dam, Sipko ; Herkert, Johanna C....
Nature Communications. 10 (2019) 1 - p. , 2019

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

14

Declining detection rates for APC and biallelic MUTYH varia..:

Terlouw, Diantha ; Suerink, Manon ; Singh, Sunny S....
European Journal of Human Genetics. 28 (2019) 2 - p. 222-230 , 2019

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

15

PRRT2-related phenotypes in patients with a 16p11.2 deletio:

Vlaskamp, Danique R.M. ; Callenbach, Petra M.C. ; Rump, Patrick...
European Journal of Medical Genetics. 62 (2019) 4 - p. 265-269 , 2019

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