Detalhe da pesquisa
1.
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Am J Med Genet A
; 185(7): 2102-2107, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089226
2.
Study of comparative surgical exposure to the petroclival region using patient-specific, petroclival meningioma virtual reality models.
Neurosurg Focus
; 51(2): E13, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34333476
3.
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Proc Natl Acad Sci U S A
; 114(37): E7766-E7775, 2017 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28847925
4.
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
Pediatr Blood Cancer
; 63(12): 2139-2145, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27428025
5.
A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease.
Ann Rheum Dis
; 74(9): 1714-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906637
6.
Variability in Perioperative Steroid Therapy Regimen for Cochlear Implantation as It Relates to Hearing Preservation.
Otol Neurotol
; 45(1): e28-e35, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38085763
7.
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.
Arthritis Rheum
; 64(7): 2375-86, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294344
8.
Citations and Author Characteristics in Open-Access and Subscription-Based Otolaryngology Journals.
Laryngoscope
; 133(1): 79-82, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560994
9.
Patulous Eustachian Tube Dysfunction Symptoms Following Balloon Dilation.
Laryngoscope
; 133(11): 3152-3157, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929856
10.
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
J Clin Invest
; 133(19)2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561579
11.
Review of Speech Outcomes in Cochlear Implant Recipients at a Nascent Cochlear Implant Program.
Cureus
; 14(2): e22543, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35345736
12.
Reliability of Home Sleep Apnea Testing for Diagnosing Obstructive Sleep Apnea in Patients With Spontaneous Cerebrospinal Fluid Leaks.
Cureus
; 14(10): e29854, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36337790
13.
Phenotype and course of Hutchinson-Gilford progeria syndrome.
N Engl J Med
; 358(6): 592-604, 2008 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18256394
14.
Reconstruction of the Anterior External Auditory Canal With Mastoid Cortex Autologous Bone Graft.
Otol Neurotol
; 42(10): e1614-e1617, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34325454
15.
A Prospective Evaluation of Swallowing and Speech in Patients with Neurofibromatosis Type 2.
J Neurol Surg B Skull Base
; 82(2): 244-250, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33777639
16.
Multimodal Atlas of the Murine Inner Ear: From Embryo to Adult.
Front Neurol
; 12: 699674, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34335453
17.
Neurofibromatosis type 2.
Lancet
; 373(9679): 1974-86, 2009 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19476995
18.
Computed tomography and otosclerosis: a practical method to correlate the sites affected to hearing loss.
Ann Otol Rhinol Laryngol
; 119(12): 789-94, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21250549
19.
Genetic Hearing Loss Associated With Autoinflammation.
Front Neurol
; 11: 141, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32194497
20.
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Hum Mutat
; 30(4): 599-608, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19204907