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  1. Microfluidic Systems: Recent Advances in Chronic Disease Diagnosis and Their Therapeutic Management

    Microfluidics has advanced the area of diagnostics during the past ten years by offering fresh approaches that weren’t achievable with traditional...

    Swadha Pandey, Saurabh Gupta, ... Amisha Rastogi in Indian Journal of Microbiology
    Article 27 May 2024
  2. Drug Discovery and Development for Rare Genetic Disorders

    A rare disease is any condition that has an extremely low prevalence on an individual basis, and most rare diseases are genetic disorders. Owing to...
    Mohamed Y. Zaky, Tasneem Abaza in Rare Genetic Disorders
    Chapter 2024
  3. PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families

    Childhood-onset osteoporosis is a rare but clinically significant condition. Studies have shown pathogenic variants in more than 20 different genes...

    Adriana Costa, Andreia Martins, ... Outi Mäkitie in Calcified Tissue International
    Article Open access 03 December 2023
  4. Aptamer-functionalized MOFs and AI-driven strategies for early cancer diagnosis and therapeutics

    Metal–Organic Frameworks (MOFs) have exceptional inherent properties that make them highly suitable for diverse applications, such as catalysis,...

    Abhishek Futane, Pramod Jadhav, ... Vigneswaran Narayanamurthy in Biotechnology Letters
    Article 28 December 2023
  5. Detection and Diagnosis of Important Soil-Borne Pathogens

    The agricultural industry has serious economic concerns globally because soil-borne plant diseases can result in catastrophic losses in crop yields,...
    K. Jayalakshmi, Nazia Manzar, ... Alok K. Singh in Detection, Diagnosis and Management of Soil-borne Phytopathogens
    Chapter 2023
  6. Looking for a systemic concept and physiological diagnosis of a plant stress state

    Plant stress state is defined here as an endogenous physiological condition associated with homeostasis disruption involving irreversible or...

    Joaquim A. G. Silveira, Rachel H. V. Sousa in Theoretical and Experimental Plant Physiology
    Article 01 April 2024
  7. Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

    Background

    X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing...

    Numrah Fadra, Laura E Schultz-Rogers, ... Eric W Klee in BMC Genomics
    Article Open access 16 April 2024
  8. Do CRISPR-based disease diagnosis methods qualify as point-of-care diagnostics for plant diseases?

    Effective plant disease management calls for a rapid, precise, and a convenient field-deployable method for early diagnosis of phytopathogens,...

    Shamfin Hossain Kasfy, Farin Tasnova Hia, Tofazzal Islam in The Nucleus
    Article 25 April 2024
  9. Interfering factors in the diagnosis of Senecavirus A

    Background

    Senecavirus A (SV-A) is an RNA virus that belongs to the genus Senecavirus within the family Picornaviridae. This study aimed to analyze...

    Antônio Augusto Fonseca Júnior, Mateus Laguardia-Nascimento, ... Marcelo Fernandes Camargos in Molecular Biology Reports
    Article 21 June 2024
  10. From genetic correlations of Alzheimer’s disease to classification with artificial neural network models

    Sporadic Alzheimer’s disease (AD) is a complex neurological disorder characterized by many risk loci with potential associations with different...

    Claudia Cava, Salvatore D’Antona, ... Danilo Porro in Functional & Integrative Genomics
    Article Open access 08 September 2023
  11. Epigenetics in the Diagnosis, Prognosis, and Therapy of Cancer

    As cancer is the leading cause of death worldwide, there is an urgent necessity to discover novel diagnostic and prognostic biomarkers as well as...
    Leilei Fu, Bo Liu in Cancer Epigenetics
    Chapter 2023
  12. Editing Genetic Material

    In the preceding sections we have become acquainted with cases in which genetic diagnostics led to a reduction of hereditary diseases in population...
    Röbbe Wünschiers in Genes, Genomes and Society
    Chapter 2022
  13. Different Methods of Microscopic and Bacteriological Diagnosis of Tuberculosis

    Tuberculosis (TB) remains one of the largest preventable causes of death worldwide with an estimated 1.6 million deaths and ten million infections...
    Rupal Rai, Praveen Gautam, ... Anirudh K. Singh in Diagnosis of Mycobacterium
    Chapter 2023
  14. Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations

    Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments,...

    Zuzana Holesova, Ondrej Pös, ... Tomas Szemes in BMC Genomics
    Article Open access 15 April 2024
  15. Imaging Techniques and Biochemical Biomarkers: New Insights into Diagnosis of Pancreatic Cancer

    Pancreatic cancer (PaC) incidence is increasing, but our current screening and diagnostic strategies are not very effective. However, screening could...

    Seyed Hamed Jafari, Zahra Sadat Lajevardi, ... Hamed Mirzaei in Cell Biochemistry and Biophysics
    Article 19 July 2024
  16. Prominent genetic variants and epigenetic changes in post-traumatic stress disorder among combat veterans

    Post-traumatic stress disorder (PTSD) is one of the most widespread and disabling psychiatric disorders among combat veterans. Substantial...

    Ahmadali Baghaei, Mojtaba Yousefi Zoshk, ... Mohsen Chamanara in Molecular Biology Reports
    Article 23 February 2024
  17. Genetic Testing in Pregnancy to Assess the Risk of Preterm Birth

    Preterm birth (PTB) is one of the leading causes of infant and child mortality under 5 years of age. PTB infants have long-term health consequences...
    Renu Bala, Rajender Singh in Genetic Testing in Reproductive Medicine
    Chapter 2023
  18. Understanding the Genetic Basis of Celiac Disease: A Comprehensive Review

    Celiac disease is an immune-mediated enteropathy with typical symptoms of weight loss, abdominal bloating, diarrhea, vomiting, or constipation. Many...

    Kajal Gaba, Parveen Malhotra, ... Amita Suneja Dang in Cell Biochemistry and Biophysics
    Article 22 June 2024
  19. A survey of awareness of diagnosis and treatment of rare diseases among healthcare professionals and researchers in India

    Rare diseases (RDs) are those that affect a small fraction of the total population. In India, where resources are scarce, the healthcare...

    Laxmikant Vashishta, Purna Bapat, ... Smritie Sheth in Journal of Biosciences
    Article 27 September 2023
  20. Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein

    Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily...

    Hua Pan, Feng Zhu, ... Yin Zhang in Journal of Genetics
    Article 05 March 2024
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