E-LIB Suche - Ergebnisse für: Blok, Lot Snijders

1

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics. 104 (2023) 2 - p. 186-197 , 2023

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

2

Loss-of-function and missense variants in NSD2 cause decrea..:

Zanoni, Paolo ; Steindl, Katharina ; Sengupta, Deepanwita...
Genetics in Medicine. 23 (2021) 8 - p. 1474-1483 , 2021

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

3

Author Correction: CHD3 helicase domain mutations cause a n..:

Blok, Lot Snijders ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 10 (2019) 1 - p. , 2019

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

4

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/..

5

Aberrant phase separation and nucleolar dysfunction in rare..:

Mensah, Martin A. ; Niskanen, Henri ; Magalhaes, Alexandre P....
Nature. , 2023

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

6

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/..

7

Heterozygous variants that disturb the transcriptional repr..:

Snijders Blok, Lot ; Vino, Arianna ; den Hoed, Joery...
Genetics in Medicine. 23 (2021) 3 - p. 534-542 , 2021

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

8

Speech‐language profiles in the context of cognitive and ad..:

Snijders Blok, Lot ; Goosen, Y. Max ; van Haaften, Leenke...
Genes, Brain and Behavior. 20 (2021) 7 - p. , 2021

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

9

Author Correction: CHD3 helicase domain mutations cause a n..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 10 (2019) 1 - p. , 2019

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

10

De novo mutations in MED13, a component of the Mediator com..:

The DDD study ; Snijders Blok, Lot ; Hiatt, Susan M....
Human Genetics. 137 (2018) 5 - p. 375-388 , 2018

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

11

CHD3 helicase domain mutations cause a neurodevelopmental s..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 9 (2018) 1 - p. , 2018

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

12

POU3F3-related disorder:Defining the phenotype and expandin..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
https://research.rug.nl/en/publications/2fd9acfb-e649-465c-8136-e2d987db37c6. , 2023

Link: https://hdl.handle.net/1..

13

Heterozygous variants that disturb the transcriptional repr..:

Blok, Lot Snijders ; Vino, Arianna ; den Hoed, Joery...
Blok , L S , Vino , A , den Hoed , J , Underhill , H R , Monteil , D , Li , H , Santos , F J R , Chung , W K , Amaral , M D , Schnur , R E , Santiago-Sim , T , Si , Y , Brunner , H G , Kleefstra , T & Fisher , S E 2021 , ' Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities ' , Genetics in Medicine , vol. 23 , no. 3 , pp. 534-542 . https://doi.org/10.1038/s41436-020-01016-6. , 2021

Link: https://cris.maastrichtu..

14

Loss-of-function and missense variants in NSD2 cause decrea..:

Zanoni, Paolo ; Steindl, Katharina ; Sengupta, Deepanwita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354849/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Loss-of-function and missense variants in NSD2 cause decrea..:

Zanoni, Paolo ; Steindl, Katharina ; Sengupta, Deepanwita...
https://research.rug.nl/en/publications/4f05c355-c1ff-4981-b207-eb98685b7658. , 2021

Link: https://hdl.handle.net/1..