Detalhe da pesquisa
1.
Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum.
Am J Med Genet A
; 188(3): 978-983, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34907638
2.
Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.
Prenat Diagn
; 42(9): 1162-1172, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35751502
3.
The impact of third-trimester genetic counseling.
Arch Gynecol Obstet
; 297(3): 659-665, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29306968
4.
A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
Am J Med Genet A
; 185(5): 1610-1613, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33590725
5.
Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 150(3): 631-5, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25788227