E-LIB Suche - Ergebnisse für: Koolen, David A.

1

Lessons learned from rapid exome sequencing for 575 critica..:

Marouane, Abderrahim ; Neveling, Kornelia ; Deden, A. Chantal...
Frontiers in Genetics. 14 (2024) - p. , 2024

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

2

P637: A newly derived DNA methylation signature for Koolen ..:

Awamleh, Zain ; Choufani, Sanaa ; Rots, Dmitrijs...
Genetics in Medicine Open. 2 (2024) - p. 101543 , 2024

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

3

A new blood DNA methylation signature for Koolen-de Vries s..:

Awamleh, Zain ; Choufani, Sanaa ; Wu, Wendy...
European Journal of Human Genetics. , 2024

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

4

GenIDA, a participatory patient registry for genetic forms ..:

Colin, Florent ; Burger, Pauline ; Mazzucotelli, Timothée...
Genetics in Medicine Open. 1 (2023) 1 - p. 100817 , 2023

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

5

Clinical and radiological assessment of scoliosis in Koolen..:

Bouman, Arianne ; Bouwmeester, Romy N. ; van Vlimmeren, Leo A....
American Journal of Medical Genetics Part A. 191 (2023) 9 - p. 2346-2355 , 2023

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

6

Ocular manifestations in Koolen–de Vries syndrome: an inter..:

Shalev, Dafna ; Koolen, David A. ; de Vries, Bert B.A....
Canadian Journal of Ophthalmology. , 2023

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

7

O46: GenIDA, an international participatory database to bet..:

Burger, Pauline ; Colin, Florent ; Strehle, Axelle...
Genetics in Medicine Open. 1 (2023) 1 - p. 100699 , 2023

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

8

ANK2 loss-of-function variants are associated with epilepsy..:

Teunissen, Maria W A ; Lewerissa, Elly ; van Hugte, Eline J H...
Human Molecular Genetics. 32 (2023) 14 - p. 2373-2385 , 2023

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

9

CAMTA1‐related disorder: Phenotypic and molecular character..:

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren...
Clinical Genetics. , 2023

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

10

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J. M. ; Hinne, Max ; Truijen, Kim M. G....
Nature Genetics. 55 (2023) 9 - p. 1598-1607 , 2023

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

11

Targeting the Diagnosis in an Adolescent with Epilepsy and ..:

Tseng, Laura A ; Engelke, Udo F H ; Huigen, Marleen C D G...
Clinical Chemistry. 68 (2022) 5 - p. 732-735 , 2022

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

12

Expanding the speech and language phenotype in Koolen-de Vr..:

St John, Miya ; van Reyk, Olivia ; Koolen, David A....
European Journal of Human Genetics. 31 (2022) 5 - p. 531-540 , 2022

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

13

The impact of lockdown on young people with genetic neurode..:

Coutelle, Romain ; Boedec, Morgane ; Vermeulen, Karlijn...
BMC Psychiatry. 22 (2022) 1 - p. , 2022

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

14

GenIDA: an international participatory database to gain kno..:

Burger, Pauline ; Colin, Florent ; Strehle, Axelle...
Journal of Neural Transmission. 130 (2022) 3 - p. 459-471 , 2022

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

15

RRM1 variants cause a mitochondrial DNA maintenance disorde..:

Shintaku, Jonathan ; Pernice, Wolfgang M. ; Eyaid, Wafaa...
Journal of Clinical Investigation. 132 (2022) 13 - p. , 2022

Link: https://doi.org/10.1172/..