Detalhe da pesquisa
1.
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
PLoS Genet
; 12(5): e1006022, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166630
2.
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Mol Cell Proteomics
; 15(4): 1435-52, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26785728
3.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937992
4.
Cleavage of E-cadherin and ß-catenin by calpain affects Wnt signaling and spheroid formation in suspension cultures of human pluripotent stem cells.
Mol Cell Proteomics
; 13(4): 990-1007, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482122
5.
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 847-55, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541559
6.
Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.
BMC Genomics
; 15: 537, 2014 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24973960
7.
Submicroscopic genomic rearrangements change gene expression in T-cell large granular lymphocyte leukemia.
Eur J Haematol
; 93(2): 143-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24649974
8.
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Hum Genet
; 129(2): 141-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21063731
9.
MRI of the reconstructed ulnar collateral ligament.
AJR Am J Roentgenol
; 197(5): 1198-204, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22021515
10.
Transcriptome Alterations In X-Irradiated Human Gingiva Fibroblasts.
Health Phys
; 111(2): 75-84, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27356049
11.
Gene Expression Profiling in the APP/PS1KI Mouse Model of Familial Alzheimer's Disease.
J Alzheimers Dis
; 50(2): 397-409, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639971
12.
Subgroup-elimination transcriptomics identifies signaling proteins that define subclasses of TRPV1-positive neurons and a novel paracrine circuit.
PLoS One
; 9(12): e115731, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25551770
13.
Deciphering the molecular profile of plaques, memory decline and neuron loss in two mouse models for Alzheimer's disease by deep sequencing.
Front Aging Neurosci
; 6: 75, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24795628
14.
Single Nucleotide Polymorphisms Caused by Assembly Errors.
Genomics Insights
; 3: 1-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-26279623