Detalhe da pesquisa
1.
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Genet Med
; 24(4): 862-869, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078725
2.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
3.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Am J Med Genet A
; 185(12): 3740-3753, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331327
4.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
5.
Assessment of a novel genetic counselling intervention to inform assisted reproductive technology treatments and other family-building options in adults with cystic fibrosis.
Reprod Biomed Soc Online
; 13: 37-45, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195396