Results 231 to 240 of about 186,781 (295)

Dural Injury Revealed by 64 Cu-DOTA PET/CT Cisternography and Intraoperative Detection of a Cholesteatoma After a Temporal Bone Gunshot Injury. [PDF]

Clin Nucl Med
Drescher R, Schneider G, Senft C, Greiser J, Freesmeyer M.   +4 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Defining the Access Routes to Intracochlear Drug Delivery Based on Temporal Bone Histology 3-Dimensional Models.

Audiol Neurootol
Hovev Z, Moverman D, Quesnel AM, Handzel O.   +3 more
europepmc   +1 more source

Exploratory operation in a patient with spontaneous temporal bone cerebrospinal fluid leaks: A case report. [PDF]

World J Clin Cases
He YS, Zheng Y.
europepmc   +1 more source

Audiometric and vestibular outcomes following temporal bone fractures: a retrospective analysis of a major trauma center cohort in China. [PDF]

Front Med (Lausanne)
Wu C, He Q.
europepmc   +1 more source

3D imaging of the human temporal bone by X-ray phase-contrast tomography. [PDF]

Npj Imaging
Schaeper JJ, Tafforeau P, Kampshoff CA, Thomas C, Meyer A, Stadelmann C, Liberman MC, Moser T, Salditt T.   +8 more
europepmc   +1 more source

Isolated abducens nerve involvement as a revealing sign of temporal bone fracture: A case report. [PDF]

Radiol Case Rep
Belkacemi A, Azouaghe Y, Bouchlarhem S, Sbai AA, Benfadil D, Lachkar A, El Idrissi FEA.   +6 more
europepmc   +1 more source

Giant cell reparative granuloma of temporal bone: Radiological finding before orthognathic surgery. [PDF]

Radiol Case Rep
Prado BN, Prado JN, Pereira LC.
europepmc   +1 more source

HRCT Scan Evaluation of Temporal Bone Cholesteatoma and its Correlation with Peroperative Findings.

J Pharm Bioallied Sci
Pandey N, Ranjan RK, Rai N, Toppo SK, Xalxo AR, Agrawal R, Gourab K.   +6 more
europepmc   +1 more source