Detalhe da pesquisa
1.
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Am J Med Genet A
; 188(5): 1545-1549, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35019224
2.
Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.
Int J Mol Sci
; 24(1)2022 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613725
3.
Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A).
JBRA Assist Reprod
; 27(2): 320-324, 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749811
4.
Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.
Eur J Med Res
; 26(1): 64, 2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34187576