Detalhe da pesquisa
1.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
2.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
3.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
4.
Epidemiology of Robin sequence: geographical variation in the UK/Ireland.
Arch Dis Child
; 109(3): 177-178, 2024 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38199816
5.
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nat Commun
; 10(1): 1951, 2019 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028252
6.
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
J Clin Invest
; 126(8): 3080-8, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27400125
7.
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.
Eur J Hum Genet
; 23(12): 1634-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25804399
8.
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nat Commun
; 6: 8085, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333996