Detalhe da pesquisa
1.
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
J Med Genet
; 59(3): 220-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526602
2.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
3.
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Am J Med Genet A
; 182(2): 279-288, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755649
4.
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.
Am J Med Genet A
; 182(6): 1329-1335, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198975
5.
Coffin-Lowry syndrome in Chinese.
Am J Med Genet A
; 179(10): 2043-2048, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400053
6.
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy.
Brain Dev
; 44(1): 44-49, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483011