Detalhe da pesquisa
1.
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019).
Prenat Diagn
; 41(6): 661-667, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848363
2.
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Hum Mutat
; 41(2): 525-531, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31663672
3.
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Hum Mutat
; 34(12): 1632-41, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038909