Detalhe da pesquisa
1.
Organoid models of human and mouse ductal pancreatic cancer.
Cell
; 160(1-2): 324-38, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557080
2.
The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells.
Nat Immunol
; 14(8): 858-66, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23793062
3.
Pseudobudding: ruptured glands do not represent true tumor buds.
J Pathol
; 261(1): 19-27, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403270
4.
Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions.
Mol Ecol
; 31(16): 4364-4380, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751552
5.
Tissue-specific mutation accumulation in human adult stem cells during life.
Nature
; 538(7624): 260-264, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27698416
6.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
J Med Genet
; 56(2): 75-80, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368457
7.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433103
8.
A systematic genome-wide analysis of zebrafish protein-coding gene function.
Nature
; 496(7446): 494-7, 2013 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23594742
9.
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
J Biol Chem
; 292(19): 7904-7920, 2017 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302725
10.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005418
11.
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.
Am J Hum Genet
; 97(4): 621-6, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387593
12.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460957
13.
Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.
Genome Res
; 24(2): 200-11, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24221193
14.
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
BMC Genomics
; 17(1): 839, 2016 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27793082
15.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney Int
; 89(2): 476-86, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489027
16.
Sambamba: fast processing of NGS alignment formats.
Bioinformatics
; 31(12): 2032-4, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25697820
17.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Genet Med
; 18(9): 949-56, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26845106
18.
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Am J Med Genet A
; 170(6): 1566-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26892345
19.
Mice lacking functional CD95-ligand display reduced proliferation of the intestinal epithelium without gross homeostatic alterations.
Med Mol Morphol
; 49(2): 110-8, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700225
20.
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.
BMC Genomics
; 16: 761, 2015 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26452345