Detalhe da pesquisa
1.
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
J Med Genet
; 61(5): 483-489, 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38160042
2.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38540785
3.
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age.
JCEM Case Rep
; 1(4): luad096, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37908991
4.
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Eur J Med Genet
; 66(11): 104847, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37751797
5.
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Fam Cancer
; 2023 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37968543
6.
Ultrasound features of a bilineal inheritance of autosomal dominant polycystic kidney disease.
Eur J Obstet Gynecol Reprod Biol
; 296: 382-383, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38519376