Detalhe da pesquisa
1.
Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.
Cytogenet Genome Res
; 161(3-4): 143-152, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33827072
2.
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Eur J Med Genet
; 66(11): 104852, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37758168
3.
Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.
Clin Res Hepatol Gastroenterol
; 45(5): 101562, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33208297