Results 121 to 130 of about 1,387,503 (298)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Ultraviolet absorption of point defects in high purity bulk AlN

AIP Advances
Four point defects are analyzed in high purity bulk AlN crystals using electron paramagnetic resonance (EPR) spectroscopy. No EPR could be detected in the dark at temperatures as low at 4 K. The neutral donor and a newly detected center, M1, are observed
Shafiqul I. Mollik, M. E. Zvanut
doaj   +1 more source

There and back again: bulk-to-defect via Ward identities

Journal of High Energy Physics
A bstract In conformal field theory, the presence of a defect may break the global symmetry, giving rise to defect operators such as the tilts. In this work, we derive integral identities that relate correlation functions involving bulk and defect ...
Jake Belton, Ziwen Kong
openaire   +3 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Unveiling chemical and physical bulk defects in ultrathin indium oxide transistors with yttrium oxide capping via nanoscale channel thickness modulation

Materials & Design
Ultrathin indium oxide (InOx) semiconductors are promising candidates for overcoming the performance limits of oxide electronics. In this study, the chemical and physical bulk defects in ultrathin InOx are clarified to improve the positive bias stability
Dohyeon Gil, Se Jin Park, Jinhong Park, Jae Wook Ahn, Minsu Choi, Jaewon Jang, Honghwi Park, Jaehoon Park, Xue Zhang, Jin-Hyuk Bae, Do-Kyung Kim   +10 more
doaj   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Abnormal skull findings in neural tube defects [PDF]

, 2009
The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro, Carrara, Sabina, Rapisarda, Giulia, La Galia, Tindara, Recupero , Stefania, Mammaro, Alessia, Accardi, Manuela Chiara, Pedata, Rosa, Imbruglia, Laura, Pappalardo, Elisa Maria   +9 more
core   +1 more source

Superconformal monodromy defects in N $$ \mathcal{N} $$ =4 SYM and LS theory

Journal of High Energy Physics
We study type IIB supergravity solutions that are dual to two-dimensional superconformal defects in d = 4 SCFTs which preserve N $$ \mathcal{N} $$ = (0, 2) supersymmetry.
Igal Arav, Jerome P. Gauntlett, Yusheng Jiao, Matthew M. Roberts, Christopher Rosen   +4 more
doaj   +1 more source

Low temperature internal gettering of bulk defects in silicon photovoltaic materials

, 2016
Multicrystalline silicon (mc-Si) substrates are widely used for photovoltaic cells. The minority carrier lifetime in mc-Si is affected by recombination associated with metallic impurities in many forms, such as point-like defects, precipitates and bound ...
Al-Amin, Mohammad, Murphy, J. D.; id_orcid, Murphy, John D., Al-Amin, M.   +3 more
core   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source