Detalhe da pesquisa
1.
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Hum Genet
; 142(1): 21-32, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997807
2.
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
Am J Med Genet A
; 188(5): 1464-1475, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080095
3.
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report.
World J Surg Oncol
; 14: 63, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940557
4.
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Eur J Hum Genet
; 29(6): 920-929, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288889
5.
Epidemiology of craniosynostosis in Norway.
J Neurosurg Pediatr
; 26(1): 68-75, 2020 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244202
6.
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
Eur J Hum Genet
; 23(12): 1652-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25735484