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1.
Evaluating Fixed Single-Point Parameters When Applied to Vestibular Evoked Myogenic Potentials: The Effect of Single Point and Signal Window.
Ear Hear
; 45(3): 753-759, 2024.
Article
in English
| MEDLINE | ID: mdl-38291589
2.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34652576
3.
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Clin Genet
; 99(2): 226-235, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33089500
4.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 185(4): 1131-1141, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33529473
5.
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Am J Med Genet C Semin Med Genet
; 184(3): 618-630, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32866347
6.
Quantitative characterization of genetic parts and circuits for plant synthetic biology.
Nat Methods
; 13(1): 94-100, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26569598
7.
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
BMC Med Genet
; 20(1): 118, 2019 07 02.
Article
in English
| MEDLINE | ID: mdl-31266487
8.
Examination of Utricular Response Using oVEMP and Unilateral Centrifugation Rotation Testing.
Ear Hear
; 39(5): 910-921, 2018.
Article
in English
| MEDLINE | ID: mdl-29432406
9.
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
J Med Genet
; 53(5): 318-29, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27095636
10.
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
Pediatr Blood Cancer
; 63(12): 2139-2145, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27428025
11.
A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease.
Ann Rheum Dis
; 74(9): 1714-9, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-24906637
12.
Phase 1 trial and pharmacokinetic study of the oral platinum analog satraplatin in children and young adults with refractory solid tumors including brain tumors.
Pediatr Blood Cancer
; 62(4): 603-10, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25556988
13.
Evolution of the class IV HD-zip gene family in streptophytes.
Mol Biol Evol
; 30(10): 2347-65, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23894141
14.
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Brain
; 136(Pt 1): 194-208, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23365097
15.
Auditory phenotype of Niemann-Pick disease, type C1.
Ear Hear
; 35(1): 110-7, 2014.
Article
in English
| MEDLINE | ID: mdl-24225652
16.
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.
Hum Mutat
; 34(9): 1250-9, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23661601
17.
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.
Article
in English
| MEDLINE | ID: mdl-22294344
18.
A new paradigm for assessing postural stability.
Gait Posture
; 100: 188-192, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36571908
19.
Audiovestibular Findings in a Cohort of Patients with Chiari Malformation Type I and Dizziness.
J Clin Med
; 12(8)2023 Apr 07.
Article
in English
| MEDLINE | ID: mdl-37109107
20.
Audiometric and Otologic Findings in Children and Young Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas.
Laryngoscope
; 133(10): 2770-2778, 2023 10.
Article
in English
| MEDLINE | ID: mdl-36583617