Detalhe da pesquisa
1.
A supervised learning method for classifying methylation disorders.
BMC Bioinformatics
; 25(1): 66, 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347515
2.
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss.
Ear Hear
; 45(2): 517-521, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930162
3.
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing.
Clin Chem
; 69(10): 1155-1162, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566393
4.
Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.
Genes Chromosomes Cancer
; 61(12): 710-719, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35771717
5.
New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
J Neurosci
; 41(20): 4378-4391, 2021 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824189
6.
Three-Dimensional Structure of Inner Ear Hair Cell Ribbon Synapses in a Zebrafish Model of Usher Syndrome Type 1B.
Zebrafish
; 20(2): 47-54, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071854
7.
Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions.
Cancer Genet
; 260-261: 1-5, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781094
8.
The GoAudio Quantitative Mobile Audiology Test Enhances Access to Clinical Hearing Assessments.
Am J Audiol
; 29(4): 887-897, 2020 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33079580
9.
L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1.
Dis Model Mech
; 13(11)2020 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361086
10.
Concurrent TERT promoter C228T and C250T mutations in diffuse gliomas: Rare occurrence of intratumoral heterogeneity.
J Neuropathol Exp Neurol
; 82(12): 1044-1047, 2023 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812785
11.
Allele-Specific Quantitative PCR for Accurate, Rapid, and Cost-Effective Genotyping.
Hum Gene Ther
; 27(6): 425-35, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26986823
12.
Laparoscopic vertical sleeve gastrectomy for the treatment of pseudotumor cerebri.
Am Surg
; 79(2): E61-2, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23336633