Detalhe da pesquisa
1.
Resolving medulloblastoma cellular architecture by single-cell genomics.
Nature;
572(7767): 74-79, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31341285
2.
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Hum Genet;
141(3-4): 965-979, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34633540
3.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet;
141(3-4): 431-444, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35278131
4.
Next-generation humanized patient-derived xenograft mouse model for pre-clinical antibody studies in neuroblastoma.
Cancer Immunol Immunother;
70(3): 721-732, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32915319
5.
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
BMC Med Genet;
20(1): 68, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31046701
6.
The role of interleukin-2, all-trans retinoic acid, and natural killer cells: surveillance mechanisms in anti-GD2 antibody therapy in neuroblastoma.
Cancer Immunol Immunother;
67(4): 615-626, 2018 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29327110
7.
TOX2 regulates human natural killer cell development by controlling T-BET expression.
Blood;
124(26): 3905-13, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25352127
8.
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
Eur Heart J;
34(13): 1002-11, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23161701
9.
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
Hum Mutat;
34(1): 66-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22911656
10.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Eur J Hum Genet;
31(7): 815-823, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37072551
11.
Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?
Public Health Genomics;
24(5-6): 253-260, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34500452
12.
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Eur J Hum Genet;
28(7): 925-937, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32467599
13.
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
Eur J Hum Genet;
21(10): 1112-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23443030
14.
Selection of stem cells by using antibodies that target different CD34 epitopes yields different patterns of T-cell differentiation.
Stem Cells;
25(2): 537-42, 2007 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17023516
15.
Human gammadelta T cells from G-CSF-mobilized donors retain strong tumoricidal activity and produce immunomodulatory cytokines after clinical-scale isolation.
J Immunother;
28(1): 73-8, 2005.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15614047