Detalhe da pesquisa
1.
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.
Hum Mol Genet
; 27(2): 351-358, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29177441
2.
Genome-wide copy number variation study in anorectal malformations.
Hum Mol Genet
; 22(3): 621-31, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23108157
3.
Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
BMC Med Genet
; 16: 49, 2015 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179878
4.
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.
Hum Mol Genet
; 21(5): 1184-9, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22116939
5.
Cancer gene mutations in congenital pulmonary airway malformation patients.
ERJ Open Res
; 5(1)2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740464
6.
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Genome Biol
; 18(1): 48, 2017 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28274275
7.
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.
BMC Med Genomics
; 9(1): 75, 2016 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27955658
8.
Persistent barrage firing in cortical interneurons can be induced in vivo and may be important for the suppression of epileptiform activity.
Front Cell Neurosci
; 8: 76, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659955
9.
Adaptive Evolution Hotspots at the GC-Extremes of the Human Genome: Evidence for Two Functionally Distinct Pathways of Positive Selection.
Adv Bioinformatics
; : 856825, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20454629
10.
A structural split in the human genome.
PLoS One
; 2(7): e603, 2007 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17622348