Bellen, Hugo J
115  results:
Search for persons X
?
2

Rare de novo gain-of-function missense variants in DOT1L ar..:

Nil, Zelha ; Deshwar, Ashish R ; Barish, Scott...
https://research.manchester.ac.uk/en/publications/cb9f487d-0f97-40cc-b17e-61506f33e83b.  , 2023
 
?
3

De novo variants in EMC1 lead to neurodevelopmental delay a..:

Chung, Hyung-Lok ; Rump, Patrick ; Lu, Di...
https://research.rug.nl/en/publications/a923dd3e-0351-4654-a465-8cf11fa638d7.  , 2022
 
?
6

The recurrent de novo c.2011C>T missense variant in MTSS2 c..:

Huang, Yan ; Lemire, Gabrielle ; Briere, Lauren C...
https://pure.eur.nl/en/publications/e9faed7b-1fbb-43c0-ae2c-09bab62d5629.  , 2022
 
?
8

The recurrent de novo c.2011C>T missense variant in MTSS2 c..:

Huang, Yan ; Lemire, Gabrielle ; Briere, Lauren C...
https://pure.eur.nl/en/publications/e9faed7b-1fbb-43c0-ae2c-09bab62d5629.  , 2022
 
?
10

TNPO2 variants associate with human developmental delays, n..:

Goodman, Lindsey D ; Cope, Heidi ; Nil, Zelha...
https://research.rug.nl/en/publications/390808ba-6c5d-4c60-b86b-8f0d24b5804e.  , 2021
 
?
14

Disruptive mutations in TANC2 define a neurodevelopmental s..:

Guo, Hui ; Bettella, Elisa ; Marcogliese, Paul C...
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdae.  , 2019
 
1-15