Detalhe da pesquisa
1.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
2.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Am J Med Genet A
; 188(10): 2869-2878, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899841
3.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet
; 58(7): 453-464, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631816
4.
Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era.
Life (Basel)
; 13(7)2023 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511919
5.
Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.
Cold Spring Harb Perspect Med
; 10(10)2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570386