1 |
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
|
|
|
|
In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683 ; American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩ (2021)
|
|
BASE
|
|
Show details
|
|
2 |
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
|
|
|
|
In: ISSN: 2041-1723 ; EISSN: 2041-1723 ; Nature Communications ; https://hal.sorbonne-universite.fr/hal-01922858 ; Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩ (2018)
|
|
BASE
|
|
Show details
|
|
3 |
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
|
|
|
|
BASE
|
|
Show details
|
|
|
|