Results 141 to 150 of about 438,288 (352)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Hydrogen maser for field use Technical report, Jun. 27, 1966 - Jan. 30, 1968 [PDF]

Hydrogen maser for field use with cavity and bulb design of maser for satellite ...
Mueller, L., Vessot, R.
core   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Initial radio-frequency gas heating experiments to simulate the thermal environment in a nuclear light bulb reactor [PDF]

Initial radio frequency gas heating experiments to simulate thermal environment in nuclear light bulb ...
Kendall, J. S., Roman, W. C., Vogt, P. G.   +2 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Multiscale Engineering of PEO Electrolytes for High‐Voltage and Ultrastable Solid‐State Lithium Batteries With Exceptional Room‐Temperature Performance

Angewandte Chemie, EarlyView.
Incorporating poly(ethylene oxide)‐poly(2‐dimethylaminoethyl methacrylate) nitrate (PEG‐PDMAEMAH+·NO3−) enhances amorphous‐phase conduction with optimized solvation in engineered PEO–PD–Li electrolytes for solid‐state lithium metal batteries. ABSTRACT Poly(ethylene oxide) (PEO) electrolytes show significant promise for flexible solid‐state batteries ...
Xuefan Liu, Bowen Zhang, Congcong Zhang, Xueyu Zhou, Xu Liu, Teng Liu, Shifeng Hou, Qifeng Zheng, Lu Wang, Linglong Kong, Shanqing Zhang   +10 more
wiley   +2 more sources

Biostimulants Improve Bulb Yield, Concomitantly Affecting the Total Phenolics, Flavonoids, and Antioxidant Capacity of Onion (Allium cepa)

Horticulturae
In the pursuit of maximizing onion (Allium cepa) yield and quality, farmers often face the challenges of unfavorable ecological conditions and inadequate agronomic practices.
Đorđe Vojnović, Ivana Maksimović, Aleksandra Tepić Horecki, Anita Milić, Zdravko Šumić, Danijela Žunić, Boris Adamović, Žarko Ilin   +7 more
doaj   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

Annals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios, Jiali Gao, Carol A.C. Coupland, Julia Hippisley Cox, Martin R. Turner, Alexander G. Thompson   +5 more
wiley   +1 more source