Detalhe da pesquisa
1.
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 143(3): 311-329, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459354
2.
Genetic testing for pediatric hearing loss: no time to waste.
Hum Genet
; 141(3-4): 315-317, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353226
3.
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Hum Genet
; 141(3-4): 387-400, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811589
4.
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Am J Med Genet A
; 185(12): 3770-3783, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369642
5.
Incidence, Time Course, and Implications of Electrode Abnormalities in Pediatric Cochlear Implant Recipients.
Ear Hear
; 42(2): 334-342, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32826503
6.
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
Am J Med Genet A
; 179(7): 1299-1303, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31012281
7.
Ambulatory Visits for Otitis Media before and after the Introduction of Pneumococcal Conjugate Vaccination.
J Pediatr
; 201: 122-127.e1, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29958675
8.
Acute Otitis Media - The Long and the Short of It.
N Engl J Med
; 375(25): 2492-2493, 2016 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002710
9.
Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.
Laryngoscope
; 133(6): 1501-1506, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158261
10.
Programming Levels and Speech Perception in Pediatric Cochlear Implant Recipients With Enlarged Vestibular Aqueduct or GJB2 Mutation.
Otol Neurotol
; 44(5): e273-e280, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167444
11.
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.
medRxiv
; 2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873491
12.
Prognosis tool based on a modified children's implant profile for use in pediatric cochlear implant candidacy evaluation.
Ann Otol Rhinol Laryngol
; 121(2): 73-84, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22397214
13.
Hearing Aid Use in Children With Unilateral Hearing Loss: A Randomized Crossover Clinical Trial.
Laryngoscope
; 132(4): 881-888, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415079
14.
Validation of a Parent Proxy Quality-of-Life Measure for Young Children With Hearing Loss.
Laryngoscope
; 131(3): 663-670, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668032
15.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Eur J Hum Genet
; 29(6): 988-997, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398081
16.
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
BMC Biotechnol
; 10: 10, 2010 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20146813
17.
Genetics of pediatric hearing loss: A functional perspective.
Laryngoscope Investig Otolaryngol
; 5(3): 511-519, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32596495
18.
Association of Blood Type With Postsurgical Mucosal Bleeding in Pediatric Patients Undergoing Tonsillectomy With or Without Adenoidectomy.
JAMA Netw Open
; 3(3): e201804, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232448
19.
Preclinical testing of AAV9-PHP.B for transgene expression in the non-human primate cochlea.
Hear Res
; 394: 107930, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145977
20.
Genomic diversity of bacteriophages infecting Microbacterium spp.
PLoS One
; 15(6): e0234636, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555720