Detalhe da pesquisa
1.
Congenital Limb Defects: A Retrospective Cohort Study and Overview of the Literature.
Ultraschall Med;
44(5): e241-e247, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36198323
2.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenat Diagn;
33(1): 75-80, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23161355
3.
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
Orphanet J Rare Dis;
18(1): 57, 2023 03 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36927364
4.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet;
30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34697416