E-LIB Suche - Ergebnisse für: Ruivenkamp, Claudia A. L.

1

Refining the 9q34.3 microduplication syndrome reveals mild ..:

Rots, Dmitrijs ; Rooney, Kathleen ; Relator, Raissa...
Clinical Genetics. 105 (2024) 6 - p. 655-660 , 2024

2

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics. 31 (2023) 4 - p. 461-468 , 2023

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

3

Reanalysis of whole-exome sequencing (WES) data of children..:

van Slobbe, Michelle ; van Haeringen, Arie ; Vissers, Lisenka E. L. M....
European Journal of Pediatrics. 183 (2023) 1 - p. 345-355 , 2023

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

4

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023

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

5

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100168 , 2023

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

6

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100102 , 2022

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

7

Expansion and mechanistic insights into de novo DEAF1 varia..:

McGee, Stacey R ; Rajamanickam, Shivakumar ; Adhikari, Sandeep...
Human Molecular Genetics. 32 (2022) 3 - p. 386-401 , 2022

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

8

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology. 92 (2022) 2 - p. 304-321 , 2022

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

9

Biallelic loss of LDB3 leads to a lethal pediatric dilated ..:

Koopmann, Tamara T. ; Jamshidi, Yalda ; Naghibi-Sistani, Mohammad...
European Journal of Human Genetics. 31 (2022) 1 - p. 97-104 , 2022

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

10

Episignature Mapping of TRIP12 Provides Functional Insight ..:

van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle...
International Journal of Molecular Sciences. 23 (2022) 22 - p. 13664 , 2022

Link: https://doi.org/10.3390/..

11

Diagnostic Value of a Protocolized In-Depth Evaluation of P..:

Atmar, Khaled ; Ruivenkamp, Claudia A. L. ; Hooimeijer, Louise...
Frontiers in Immunology. 13 (2022) - p. , 2022

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

12

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022

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

13

Biallelic ADAM22 pathogenic variants cause progressive ence..:

van der Knoop, Marieke M ; Maroofian, Reza ; Fukata, Yuko...
Brain. 145 (2022) 7 - p. 2301-2312 , 2022

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

14

The Phenotypic Continuum ofATP1A3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
Neurology. 99 (2022) 14 - p. , 2022

Link: https://doi.org/10.1212/..

15

Heterozygous variants in SPTBN1 cause intellectual disabili..:

Rosenfeld, Jill A. ; Xiao, Rui ; Bekheirnia, Mir Reza...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2037-2045 , 2021

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