Detalhe da pesquisa
1.
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.
Clin Exp Dermatol
; 47(4): 812-815, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958133
2.
Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome.
Genet Mol Res
; 12(4): 4630-8, 2013 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24222239
3.
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
J Dent Res
; 102(6): 616-625, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951356
4.
Chromosome imbalances in syndromic hearing loss.
Clin Genet
; 76(5): 458-64, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19807740
5.
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
J Med Genet
; 45(7): 447-50, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18456720
6.
CD47 expression is decreased in hematopoietic progenitor cells in patients with myelofibrosis.
Braz J Med Biol Res
; 52(1): e7784, 2018 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30539968
7.
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
Cytogenet Genome Res
; 115(3-4): 254-61, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17124408
8.
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.
Clin Genet
; 77(4): 404-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20095987
9.
CD47 expression is decreased in hematopoietic progenitor cells in patients with myelofibrosis
Braz. j. med. biol. res
; 52(1): e7784, 2019. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-974264
10.
Complex phenotype associated with 17q21.31 microdeletion.
Mol Syndromol
; 4(6): 297-301, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24167466
11.
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
Mol Syndromol
; 1(3): 133-135, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21031083