Detalhe da pesquisa
1.
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Mol Genet Genomics
; 297(5): 1343-1352, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821352
2.
Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing.
Pediatr Res
; 89(3): 518-525, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413891
3.
Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis.
Int J Mol Sci
; 22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071371
4.
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Hum Mutat
; 37(8): 732-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158814
5.
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Ophthalmol Sci
; 3(4): 100303, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37250922
6.
Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma.
Cancers (Basel)
; 14(3)2022 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35159112
7.
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Front Pediatr
; 9: 772800, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34900871
8.
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Eur J Hum Genet
; 25(10): 1126-1133, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905882