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1.
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Am J Med Genet A
; 194(2): 195-202, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37774117
2.
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Am J Med Genet C Semin Med Genet
; 184(4): 1052-1059, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33277783
3.
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
Am J Med Genet A
; 179(4): 608-614, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30762279
4.
Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing.
J Genet Couns
; 27(5): 1210-1219, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29550970
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