Results 121 to 130 of about 253,520 (268)

Simplified method for EEG recordings in mice. [PDF]

MethodsX
Zou B, Xie XS, Gerashchenko L.
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Bilateral Skull Fractures in an Infant: Diagnostic Dilemma Between Accident and Abuse. [PDF]

Case Rep Pediatr
Hirade T, Koike D.
europepmc   +1 more source

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

Uncertainty estimation and probabilistic skull shape reconstruction using bayesian neural networks. [PDF]

Sci Rep
Li J, Sengupta A, Zachow S.
europepmc   +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Comparison of Clinical Outcomes Between Transcranial and Transmaxillary Free Flap Insets in Anterior Skull Base Reconstruction. [PDF]

Plast Reconstr Surg Glob Open
Gonn M, Stigare E, Lidian A, Reilly FOF, Gudjohnsson O, Grabowska A, Rodriguez Lorenzo A.   +6 more
europepmc   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Middle-Term Follow-Up Outcomes of the Customised Temporomandibular Joint-Skull Base Combined Prosthesis by 3D Printing. [PDF]

Int Dent J
Xu Q, Zhang Y, Wei X, Huo L, Han Z, Bu L, Chen M, Zheng J, Yang C.   +8 more
europepmc   +1 more source

Biofilm Exoproteins From Staphylococcus Species Impede Re‐Epithelialization of Nasal Epithelial Cells During Wound Healing and Cease Ciliary Beat Frequency

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Chronic rhinosinusitis (CRS) is an inflammatory disease with many different contributing factors, including bacterial infection. CRS patients are typically managed with medical therapies; however, these treatments frequently fail, leaving surgery as the only viable option.
Sintayehu Ambachew, Mahnaz Ramezanpour, Clare M. Cooksley, Emma F. Barry, Lindsay Durr, Kevin Aaron Fenix, P. J. Wormald, Alkis J. Psaltis, Sarah Vreugde   +8 more
wiley   +1 more source