Detalhe da pesquisa
1.
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Am J Hum Genet
; 109(2): 270-281, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063063
2.
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
J Med Genet
; 61(5): 459-468, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296632
3.
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Clin Genet
; 105(5): 584-586, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454547
4.
An atypical Aymé-Gripp phenotype detected by exome sequencing.
Am J Med Genet A
; 194(1): 70-76, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712597
5.
Neurodevelopmental outcomes of children with congenital cytomegalovirus: a systematic scoping review.
Pediatr Res
; 95(2): 418-435, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225779
6.
Decoding human cytomegalovirus for the development of innovative diagnostics to detect congenital infection.
Pediatr Res
; 95(2): 532-542, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146009
7.
Clinical Utility of the Standardized Word Recognition Score.
Ear Hear
; 45(1): 94-105, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386698
8.
Deep Learning Models for Predicting Hearing Thresholds Based on Swept-Tone Stimulus-Frequency Otoacoustic Emissions.
Ear Hear
; 45(2): 465-475, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990395
9.
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
10.
Congenital Cytomegalovirus-Associated Sensorineural Hearing Loss in Children: Identification Following Universal Newborn Hearing Screening, Effect of Antiviral Treatment, and Long-Term Hearing Outcomes.
Ear Hear
; 45(1): 198-206, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563758
11.
Marked Underestimation of Platelet Count and a Characteristic Platelet Histogram as Clues to MYH9-Related Disorders.
Clin Lab
; 70(3)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469783
12.
Efficacy of intratympanic steroid therapy for severe and profound sudden sensorineural hearing loss.
Am J Otolaryngol
; 45(2): 104170, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38101127
13.
Efficacy of high dose systemic versus combined (systemic and intratympanic) corticosteroid therapy in idiopathic sudden sensorineural hearing loss: A prospective randomized trial and risk factor analysis.
Am J Otolaryngol
; 45(1): 104099, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37948820
14.
Preoperative EABR evaluation of auditory pathway integrity in patients with different etiology and postoperative effect estimation.
Eur Arch Otorhinolaryngol
; 281(3): 1185-1193, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37615702
15.
N-Acetylcysteine combined with prednisolone treatment shows better hearing outcome than treatment with prednisolone alone for patients with idiopathic sudden sensorineural hearing loss: a retrospective observational study.
Eur Arch Otorhinolaryngol
; 281(1): 107-116, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392235
16.
Cochlear implantation in Bjornstad syndrome: a case series with literature review.
Eur Arch Otorhinolaryngol
; 281(2): 1047-1052, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37816838
17.
The challenge of a mature final diagnosis of hearing loss severity and early cochlear implantation.
Eur Arch Otorhinolaryngol
; 281(4): 2011-2022, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191746
18.
Prevalence of perilymphatic fistula in patients with sudden-onset sensorineural hearing loss as diagnosed by Cochlin-tomoprotein (CTP) biomarker detection: its association with age, hearing severity, and treatment outcomes.
Eur Arch Otorhinolaryngol
; 281(5): 2373-2381, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38123733
19.
[Retrocochlear diagnostics for acute hearing loss and successful therapy]. / Retrocochleäre Diagnostik im Rahmen der Hörsturzuntersuchung und erfolgreiche Therapie.
HNO
; 72(1): 44-50, 2024 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-37615685
20.
[Role of intratympanic glucocorticoid treatment in sudden hearing loss]. / Stellenwert der intratympanalen Glukokortikoidtherapie in der Behandlung des Hörsturzes.
HNO
; 72(4): 291-302, 2024 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-38351342