Detalhe da pesquisa
1.
High Frequency of Copy-Neutral Loss of Heterozygosity in Patients with Myelofibrosis.
Cytogenet Genome Res
; 154(2): 62-70, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29587261
2.
Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.
Cytogenet Genome Res
; 148(2-3): 174-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27251740
3.
OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity.
J Clin Invest
; 133(23)2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37847567
4.
Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.
Mol Syndromol
; 13(4): 290-304, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36158055
5.
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.
Mol Syndromol
; 10(4): 202-208, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602192
6.
A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability.
Mol Syndromol
; 10(4): 234-238, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602198