Detalhe da pesquisa
1.
Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.
J Pediatr
; 261: 113362, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36841509
2.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499310
3.
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Am J Med Genet A
; 167(6): 1396-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899461
4.
CF versus CRMS: diagnostic challenges in cystic fibrosis.
Minn Med
; 95(10): 42-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23193705
5.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol
; 15(3): R53, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667040
6.
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
JIMD Rep
; 11: 125-32, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23657977