Detalhe da pesquisa
1.
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
J Hum Genet
; 62(8): 741-746, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28250421
2.
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.
Neurology
; 98(2): e199-e206, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675106