Detalhe da pesquisa
1.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35579625
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745127
3.
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.
Genes (Basel)
; 15(5)2024 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38790225
4.
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
J Matern Fetal Neonatal Med
; 37(1): 2344718, 2024 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38679587
5.
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Genes (Basel)
; 14(8)2023 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37628640
6.
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.
Autophagy
; 18(7): 1662-1672, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34964709
7.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
J Pers Med
; 11(6)2021 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34203982
8.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet
; 28(9): 1231-1242, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32332872
9.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Eur J Hum Genet
; 28(10): 1446-1458, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32541681
10.
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet
; 32(1): 134, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36732665