E-LIB Suche - Ergebnisse für: Vissers, Lisenka

1

SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia ..:

Zhang, Linda ; Hsu, Joanne I ; Braekeleer, Etienne D...
eLife. 12 (2024) - p. , 2024

Link: https://doi.org/10.7554/..

2

SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia ..:

Zhang, Linda ; Hsu, Joanne I ; Braekeleer, Etienne D...
eLife. 12 (2024) - p. , 2024

Link: https://doi.org/10.7554/..

3

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine. 26 (2024) 3 - p. 101041 , 2024

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

4

DeNovoCNN: a deep learning approach to de novo variant call..:

Khazeeva, Gelana ; Sablauskas, Karolis ; van der Sanden, Bart...
Nucleic Acids Research. 50 (2022) 17 - p. e97-e97 , 2022

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

5

De novo mutations in beta-catenin (CTNNB1) appear to be a f..:

Kuechler, Alma ; Willemsen, Marjolein H. ; Albrecht, Beate...
Human Genetics. 134 (2014) 1 - p. 97-109 , 2014

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

6

Upstream SLC2A1 translation initiation causes GLUT1 deficie..:

Willemsen, Michèl A ; Vissers, Lisenka ELM ; Verbeek, Marcel M...
European Journal of Human Genetics. 25 (2017) 6 - p. 771-774 , 2017

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

7

Absence of α- and β-dystroglycan is associated with Walker-..:

Riemersma, Moniek ; Mandel, Hanna ; van Beusekom, Ellen...
Neurology. 84 (2015) 21 - p. 2177-2182 , 2015

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

8

Mobster: accurate detection of mobile element insertions in..:

Thung, Djie Tjwan ; de Ligt, Joep ; Vissers, Lisenka EM...
Genome Biology. 15 (2014) 10 - p. , 2014

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

9

Point mutations as a source of de novo genetic disease:

de Ligt, Joep ; Veltman, Joris A ; Vissers, Lisenka ELM
Current Opinion in Genetics & Development. 23 (2013) 3 - p. 257-263 , 2013

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

10

Clinical and cytogenetic characterization of 13 Dutch patie..:

Swinkels, Mariëlle E.M. ; Simons, Annet ; Smeets, Dominique F....
American Journal of Medical Genetics Part A. 146A (2008) 11 - p. 1430-1438 , 2008

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

11

Ovotestes and XY sex reversal in a female with an interstit..:

Schlaubitz, Silke ; Yatsenko, Svetlana A. ; Smith, Laurie D....
American Journal of Medical Genetics Part A. 143A (2007) 10 - p. 1071-1081 , 2007

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

12

O1: Tiling resolution genome profiling in mental retardatio:

de Vries, Bert B. ; Pfundt, Rolph ; Leisink, Martijn...
European Journal of Medical Genetics. 48 (2005) 4 - p. 444 , 2005

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

13

Chromosomal breakpoint mapping by arrayCGH using flow-sorte..:

Veltman, Imke M. ; Veltman, Joris A. ; Arkesteijn, Ger...
BioTechniques. 35 (2003) 5 - p. 1066-1070 , 2003

Link: https://doi.org/10.2144/..

14

Variant-specific pathophysiological mechanisms of AFF3 diff..:

Bassani, Sissy ; Chrast, Jacqueline ; Ambrosini, Giovanna...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

15

Prevalence of comorbidities in individuals with neurodevelo..:

Dingemans, Alexander J. M. ; Jansen, Sandra ; van Reeuwijk, Jeroen...
Nature Medicine. 30 (2024) 7 - p. 1994-2003 , 2024

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