Results 141 to 150 of about 37,575 (257)

A bilateral filtering-based image enhancement for Alzheimer disease classification using CNN. [PDF]

PLoS One
Awarayi NS, Twum F, Hayfron-Acquah JB, Owusu-Agyemang K.   +3 more
europepmc   +1 more source

Electroencephalogram‐Driven Recognition of Parkinson's Disease Through a Mycelium‐Inspired Memristive Reservoir Computing Circuit

Advanced Intelligent Systems, EarlyView.
This work presents a bio‐inspired computing framework for Parkinson's disease analog recognition using electroencephalogram signals. Temporally encoded EEG features stimulate a mycelium‐inspired memristive reservoir, where disease‐related patterns emerge through physical spatiotemporal dynamics.
Ioannis K. Chatzipaschalis, Ioannis Tompris, Pantelis Fraidakis, Iosif‐Angelos Fyrigos, Antonio Rubio, Georgios Ch. Sirakoulis   +5 more
wiley   +1 more source

An efficient breast cancer classification model using bilateral filtering and fuzzy convolutional neural network. [PDF]

Sci Rep
Hayum AA, Jaya J, Sivakumar R, Paulchamy B.   +3 more
europepmc   +1 more source

Pre‐Curved Everting Robots With Embedded Steering Intelligence Fabricated by CO2 Laser Welding

Advanced Intelligent Systems, EarlyView.
Design and experimental demonstration of a laser welded growing robot for anatomically guided navigation. The robot follows an aortic arch phantom entering the branchiocephalic branch through steering by design. The figure shows the physical phantom setup, CAD defined weld geometry and full robot eversion.
Brandon Saldarriaga, Panagiotis Kalozoumis, Panagiotis Vartholomeos, Carlo Seneci, Kawal Rhode, Christos Bergeles   +5 more
wiley   +1 more source

MDSC: Unsupervised Multipath Decomposition and Synergistic Correction for Efficient Low‐Light Image Enhancement with Detail‐Aware Smoothing

Advanced Intelligent Systems, EarlyView.
This work proposes MDSC, an unsupervised low‐light enhancement framework integrating three core innovations: detail‐aware smoothing, multipath decomposition, and synergistic correction. It suppresses noise, handles rapid illumination variations, and prevents reflectance‐contrast amplification inherent to Retinex separation.
Yong Cheng, De Yu, Yongqi Yuan, Mengjie Ye, Huan Wang, Qian Zhang, Ge Jin   +6 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +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