Detalhe da pesquisa
1.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS Genet
; 17(8): e1009698, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358225
2.
Atypical 3q26/MECOM rearrangements genocopy inv(3)/t(3;3) in acute myeloid leukemia.
Blood
; 136(2): 224-234, 2020 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219447
3.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Acta Obstet Gynecol Scand
; 100(11): 2036-2043, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472080
4.
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
BMC Med Genet
; 16: 61, 2015 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26285866
5.
Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia.
Cancers (Basel)
; 14(3)2022 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35158780
6.
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.
Birth Defects Res
; 112(9): 670-687, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298054
7.
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Hum Mutat
; 29(6): E13-26, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18425781
8.
Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA.
Oncotarget
; 8(17): 28558-28574, 2017 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28212566
9.
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
Eur J Hum Genet
; 24(12): 1715-1723, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436264
10.
Mutations in a TGF-ß ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
J Am Coll Cardiol
; 65(13): 1324-1336, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25835445