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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Mol Genet Genomic Med
; 10(6): e1926, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35348309
2.
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.
Front Genet
; 13: 982508, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36386832
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