Detalhe da pesquisa
1.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
J Med Virol
; 95(2): e28457, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597901
2.
Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series.
Childs Nerv Syst
; 37(5): 1779-1784, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32809063
3.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248
4.
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Eur J Hum Genet
; 23(3): 292-301, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25052316
5.
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
Eur J Med Genet
; 57(1): 32-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24211661
6.
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
Eur J Med Genet
; 57(6): 275-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24704789
7.
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome.
Clin Dysmorphol
; 24(1): 24-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192472