Detalhe da pesquisa
1.
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Nat Med
; 25(4): 583-590, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30804514
2.
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Orphanet J Rare Dis
; 11: 1, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26728142
3.
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Eur J Hum Genet
; 24(2): 198-207, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25966638
4.
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Hum Mutat
; 26(6): 540-9, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16287142
5.
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.
J Bone Miner Res
; 33(7): 1377-1378, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878396
6.
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.
Genomics
; 88(2): 152-62, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16713171
7.
Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer.
Genes Chromosomes Cancer
; 45(7): 656-67, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16575877