E-LIB Suche - Ergebnisse für: Venselaar, Hanka

1

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics. 111 (2024) 8 - p. 1605-1625 , 2024

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

2

Rational design of a genomically humanized mouse model for ..:

Verdoodt, Dorien ; van Wijk, Erwin ; Broekman, Sanne...
Hearing Research. 442 (2024) - p. 108947 , 2024

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

3

Expanding the PRAAS spectrum: De novo mutations of immunopr..:

van der Made, Caspar I. ; Kersten, Simone ; Chorin, Odelia...
The American Journal of Human Genetics. 111 (2024) 4 - p. 791-804 , 2024

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

4

Novel α-1,3-Glucosyltransferase Variants and Their Broad Cl..:

Boerrigter, Melissa M. ; te Morsche, René H. M. ; Venselaar, Hanka...
Genes. 14 (2023) 8 - p. 1652 , 2023

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

5

De novo mutation hotspots in homologous protein domains ide..:

Wiel, Laurens ; Hampstead, Juliet E. ; Venselaar, Hanka...
The American Journal of Human Genetics. 110 (2023) 1 - p. 92-104 , 2023

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

6

An Overview of the Putative Structural and Functional Prope..:

Wolf, Casper J. H. ; Venselaar, Hanka ; Spoelder, Marcia...
Life. 13 (2023) 4 - p. 926 , 2023

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

7

A protein domain-oriented approach to expand the opportunit..:

Schellens, Renske T.W. ; Broekman, Sanne ; Peters, Theo...
Molecular Therapy - Nucleic Acids. 32 (2023) - p. 980-994 , 2023

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

8

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

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

9

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cy..:

Reurink, Janine ; de Vrieze, Erik ; Li, Catherina H. Z....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

10

Genotype-phenotype associations in a large PTEN Hamartoma T..:

Hendricks, Linda A.J. ; Hoogerbrugge, Nicoline ; Venselaar, Hanka...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104632 , 2022

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

11

Inherited variants in CHD3 show variable expressivity in Sn..:

van der Spek, Jet ; den Hoed, Joery ; Snijders Blok, Lot...
Genetics in Medicine. 24 (2022) 6 - p. 1283-1296 , 2022

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

12

Antisense oligonucleotide-based treatment of retinitis pigm..:

Dulla, Kalyan ; Slijkerman, Ralph ; van Diepen, Hester C....
Molecular Therapy. 29 (2021) 8 - p. 2441-2455 , 2021

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

13

Molecular Inversion Probe-Based Sequencing of USH2A Exons a..:

Reurink, Janine ; Dockery, Adrian ; Oziębło, Dominika...
International Journal of Molecular Sciences. 22 (2021) 12 - p. 6419 , 2021

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

14

Correction to: Neutropenia and intellectual disability are ..:

Wortmann, Saskia B. ; Ziętkiewicz, Szymon ; Guerrero-Castillo, Sergio...
Genetics in Medicine. 23 (2021) 9 - p. 1789 , 2021

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

15

Bifunctional protein PCBD2 operates as a co‐factor for hepa..:

Tholen, Lotte E. ; Bos, Caro ; Jansen, Pascal W. T. C....
The FASEB Journal. 35 (2021) 4 - p. , 2021

Link: https://doi.org/10.1096/..