Detalhe da pesquisa
1.
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
Am J Med Genet A
; 179(9): 1764-1777, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240838
2.
Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences.
Hered Cancer Clin Pract
; 17: 32, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31890060
3.
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.
Hered Cancer Clin Pract
; 15: 10, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28736585
4.
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
Ophthalmic Genet
; 41(6): 563-569, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940104
5.
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
Case Rep Med
; 2020: 5108052, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655646
6.
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
Case Rep Genet
; 2020: 3256539, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047678
7.
Physician interpretation of variants of uncertain significance.
Fam Cancer
; 18(1): 121-126, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721668
8.
Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer.
Front Oncol
; 8: 330, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30186770