Cuckoo Search-Driven Optimization of Artificial Neural Networks for Accurate Fingerprint-Based Toxicity Prediction

RR Rizwandy, A Aditsania… - … Conference on Artificial …, 2023 - ieeexplore.ieee.org
Human exposure to a wide range of chemical compounds, some of which pose significant
health risks, underscores the critical need to assess chemical toxicity comprehensively …

Development of gene-therapy tools for Bernard-Soulier syndrome type C treatment

G Martínez Navajas - 2023 - digibug.ugr.es
Platelets are anucleate cell fragments released from megakaryocytes, their precursor cells
which reside within the bone marrow. Platelets participate in a wide variety of processes like …

[HTML][HTML] Experiences in Routine Genetic Analysis of Hereditary Hemorrhagic, Thrombotic, and Platelet Disorders

B Pezeshkpoor, J Oldenburg, A Pavlova - Hämostaseologie, 2022 - thieme-connect.com
Hemostasis is a complex and tightly regulated system that attempts to maintain a
homeostatic balance to permit normal blood flow, without bleeding or thrombosis …

Testy agregometrii optycznej w diagnostyce trombocytopatii

D Malarczyk, E Odnoczko - Journal of Transfusion Medicine, 2023 - journals.viamedica.pl
Zaburzenia funkcji płytek krwi (PFD) to rzadko występująca, a zarazem heterogenna grupa
chorób należących do skaz krwotocznych. Kompleksowa diagnostyka nieprawidłowej …

Estudo de Anomalias plaquetares hereditárias por sequenciação massiva (NGS)

MJP Dinis - 2022 - repositorio.ul.pt
As disfunções plaquetares hereditárias (DPH) constituem um grupo heterogéneo de
patologias raras, subdiagnosticadas que afetam o número de plaquetas (trombocitopenia) …

Impact of Next Generation Sequencing on molecular genetic analysis in patients with multiple coagulation factor deficiencies

B Preisler, B Pezeshkpoor, R Fischer… - …, 2024 - thieme-connect.com
Method Approximately, 7500 index patients (IPs) with known deficiencies in one or more
than one coagulation factors have been screened by Sanger Sequencing and Multiplex …

[PDF][PDF] GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic and platelet disorders

K Megy, K Downes, M Morel‐kopp, JM Bastida… - pure-oai.bham.ac.uk
Abstract The implementation of High Throughput Sequencing (HTS) technologies in
research and diagnostic laboratories has linked many new genes to rare bleeding …

A novel, homozygous mutation in GFI1B causing inherited thrombocytopenia with Glanzmann-like platelet dysfunction

C Zaninetti, K Selleng, T Thiele, J Wesche… - …, 2023 - thieme-connect.com
Method Clinical assessment, platelet phenotyping by flow-cytometry, immunofluorescence
microscopy, standard aggregometry, DNA analysis as well as a platelet reactive antibody …