Results 211 to 220 of about 609,093 (295)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Complete Ear Reconstruction With Pre-laminated Radial Artery-Based Free Flap in Old Traumatic Amputation. [PDF]

Cureus
Aggarwal A, Brajesh V, Singh S, Pratik PIP, Sharma S.   +4 more
europepmc   +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

Development of machine learning-based predictive models for evaluating risk in the contralateral ear among patients with unilateral sudden sensorineural hearing loss. [PDF]

Chin Med J (Engl)
Zhao X, Gao Y, Liu C, Wang D, Wang Q.
europepmc   +1 more source

Temperature‐Controlled Radiofrequency for Severe Nasal Airway Obstruction: A Non‐Inferiority Comparison With Surgical Intervention

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Temperature‐controlled radiofrequency (TCRF), septoplasty (ST) with turbinate reduction, and functional rhinoplasty (FR) are treatment options for nasal airway obstruction (NAO) and nasal valve dysfunction (NVD), but no direct comparison of these procedures has been performed. Methods This prospective, open‐label, non‐inferiority (
Greg Davis, Zeeshan Aziz, Jose Barrera, William Blythe, Chris Davis, Steven Davis, Thomas Higgins, Charles Lano, Gregory Levitin, Frederick Lopatin, Samuel Oyer, Stacey Silvers, Ariel Waitzman, Randall Ow   +13 more
wiley   +1 more source

Deep Learning for Ear-EEG-Based Brain-Computer Interface: A Systematic Comparison and Design Insights. [PDF]

Biosensors (Basel)
Kim JS, Choi SI, Hwang HJ, Han CH.
europepmc   +1 more source

Leptin May Promote Eosinophilic CRSwNP Progression by Enhancing Eosinophil Chemotaxis and Angiogenesis Under a Type 2 Inflammatory Milieu

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyp (CRSwNP) is a heterogeneous Type 2 inflammatory disease characterized by enhanced eosinophilic infiltration. Both innate and adaptive immunity are involved in the onset and progression of CRSwNP.
Yuki Sonoda, Yohei Sato, Yoshimasa Imoto, Mayumi Tamari, Shigeharu Fujieda   +4 more
wiley   +1 more source

Signal-specific performance of in-ear EEG: strengths and limitations. [PDF]

Front Neurosci
Frei V, Mainar P, Fritz T, Chardon JM, Giroud N.   +4 more
europepmc   +1 more source

Lost and Found: Is Olfactory Recovery More Promising After COVID‐19 Than Other Causes, Even 2 Years Later?

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is a hallmark feature of COVID‐19, yet the potential for recovery with long‐standing COVID‐19‐related smell loss (CRSL) remains uncertain, particularly when treatment is initiated years later. This study evaluated olfactory outcomes in patients with CRSL compared with non‐COVID‐19‐related smell loss (non‐CRSL),
John W. Hunsicker, Mabel Berg, Nicolaus Knight, Jessica W. Grayson, Bradford A. Woodworth, Justin H. Turner, Do‐Yeon Cho   +6 more
wiley   +1 more source