Genetic disorder

Alagille syndrome is an autosomal dominant disorder that affects many various organs. Objectives: Determining the prevalence of clinical and genetic characteristics of children with Alagille syndrome in Children’s Hospital No.1.

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Part 1 book "Pediatric primary care - Practice guidelines for nurses" includes content: Obtaining an initial history, obtaining an interval history, performing a physical examination, making newborn rounds, guidelines for breastfeeding, common genetic disorders,... and other contents.

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Updating researchers on phenomenal progress in the field of molecular medicine the Encyclopedia of Medical Genomics and Proteomics offers trail-blazing studies and authoritative contributions from more than 400 specialists. Topics include: Molecular diagnostics; Genomics, microbiology, genetics, and pharmacogenetics; Management of infectious, neoplastic, and genetic diseases;...

1391p vimeyers 29-05-2024 3 2   Download

Oxidoreductases (ORases) are enzymes that catalyze oxidation and reduction reactions in cells or extracellular compartments of the body. Genetic mutations and other factors that affect ORase activity have been implicated in a range of diseases, especially inherited metabolic disorders. Aldose reductase, sorbitol dehydrogenase, xanthine oxidoreductase are the ORases with relevance to diabetes pathology.

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Part 1 book "Hutchison’s paediatrics" includes content: Paediatric history and examination, growth and development, paediatric genetics, nutrition, respiratory disorders, paediatric cardiology, gastroenterology and hepatology, care of the paediatric surgical patient, paediatric cardiology, neonatal surgery, general paediatric surgery, paediatric urology, dermatology, haematological disorders.

432p zizaybay1101 30-04-2024 3 2   Download

Part 1 book "Robbins basic pathology" includes content: The cell as a unit of health and disease; cell injury, cell death, and adaptations; inflammation and repair; hemodynamic disorders, thromboembolism, and shock; diseases of the immune system; neoplasia; genetic and pediatric diseases; environmental and nutritional diseases.

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Part 2 book "A textbook of opthalmology" includes content: Ocular diseases and ocular affections in systemic diseases - urgical procedures, miscellaneous aspects, genetics and paediatric ophthalmology, immunology related to ocular disorders, prevention and rehabilitation of blindness.

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Ebook "Stem cells in modeling human genetic diseases" examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others.

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Ebook "CFTR and cystic fibrosis: From structure to function" is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis.

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Part 2 book "General and oral pathology for dental hygiene practice" includes content: Developmental disorders of the orofacial complex; disorders of genetics and inheritance; neoplasms of the oral soft tissues and facial skin; neoplasms of the bones of the mandible and maxilla; systemic pathology and oral manifestations of systemic diseases.

180p muasambanhan10 11-04-2024 2 1   Download

Part 1 book "Pocket companion to Robbins cotran pathologic basis of disease" includes content: Cellular responses to stress and toxic insults; acute and chronic inflammation; tissue renewal, regeneration, and repair; hemodynamic disorders, thromboembolic disease and shock; genetic disorders; diseases of the immunesystem; neoplasia; infectious diseases; environmental and nutritional diseases; diseases of infancy and childhood, blood vessels, the heart, diseases of white blood cells, lymph nodes, spleen and thymus.

353p muasambanhan10 06-04-2024 5 0   Download

Part 1 book "Textbook of veterinary pathology - Quick review and self assessment" includes content: Introduction, etiology, genetic disorders, developmental anomalies and monsters, disturbances in growth, disturbances in circulation, disturbances in cell metabolism, necrosis, gangrene and post mortem changes, disturbances in calcification and pigment metabolism, inflammation and healing, concretions, immunity and immunopathology, pathology of cutaneous system, pathology of musculoskeletal systemm,... and other contents.

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Part 2 book "Essentials of pediatric nursing" includes content: Nursing care of the child with a neuromuscular disorder, nursing care of the child with a musculoskeletal disorder, nursing care of the child with an integumentary disorder, nursing care of the child with a hematologic disorder, nursing care of the child with an immunologic disorder, nursing care of the child with an endocrine disorder; nursing care of the child with a neoplastic disorder; nursing care of the child with a genetic disorder; nursing care of the child with a cognitive or mental health disorder; nursing care during...

556p muasambanhan10 03-04-2024 4 2   Download

Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory.

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Recent studies have used genome-wide data to investigate evolutionary mechanisms related to behavioral phenotypes, identifying widespread signals of positive selection. Here, we conducted a genome-wide investigation to study whether the molecular mechanisms involved in these traits were affected by local adaptation.

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Rheumatoid arthritis is a common autoimmune disorder influenced by both genetic and environmental factors. Epigenome-wide association studies can identify environmentally mediated epigenetic changes such as altered DNA methylation.

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Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor skills. High co-occurrence (comorbidity) of NDDs indicates a shared, underlying biological mechanism.

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Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families.

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Reprogramming human induced pluripotent stem cells (iPSCs) from somatic cells and generating three-dimensional brain organoids from these iPSCs provide access to live human neuronal tissue with diseasespecific genetic backgrounds.

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Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of embryonic mosaic mutations (EMMs) have only been studied in few tissues, and their contribution to genetic disorders is unknown.

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