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8721
Feigning Acute Intermittent Porphyria
Published 2014-01-01“…Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. …”
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8722
Cardiomyopathy Associated with Celiac Disease in Childhood
Published 2012-01-01“…Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. …”
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8723
Application of ecological and mathematical theory to cancer: New challenges
Published 2015-07-01“…Cancer is a complex, multi-scale process, in which genetic mutations occurringat a sub-cellular level manifest themselves as functional changes at the cellular and tissue scale.For more information please click the “Full Text” above.…”
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8724
Epigenetic and gene regulatory functions of small RNAs
Published 2023-12-01“…I discuss how the discovery of the existence of an RNA intermediate between genetic information and protein translation has changed our perspective on the role of RNA in gene regulation in these past years. …”
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8725
A novel truncated fusion gene ETV6::AC010198.2 in post-MPN acute myeloid leukemia caused by del(12)(p13p11)
Published 2025-02-01“…The gene ETV6 has been confirmed to be a genetic susceptibility gene for thrombocytopenia and leukemia. …”
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8726
Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization
Published 2021-01-01“…Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. …”
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8727
Tracking des transferts des bactéries porteuses de résistances entre animal, homme et environnement
Published 2023-08-01“…Various targeted or pan-genomic molecular biology techniques can be used to better characterise the dissemination of bacterial clones and to identify exchanges of genes and mobile genetic elements between ecosystems.…”
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8728
Familial Kaposi’s Sarcoma: A Report of Five Cases from Greece
Published 2014-01-01“…The pathogenesis of familial Kaposi’s sarcoma is still far from being completely understood. Genetic, environmental, and infectious factors have been incriminated.…”
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8729
Glossopharyngeal Dystonia Secondary to a Lurasidone-Fluoxetine CYP-3A4 Interaction
Published 2013-01-01“…Drug-drug interactions, patient characteristics, and environmental and genetic factors all contribute to the rate of occurrence of acute dystonia with second generation agents. …”
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8730
Fatal Cholestatic Hepatitis in an Infant: An Unusual Etiology
Published 1995-01-01“…Recognition of the combination of adenoviral infection with underlying primary immunodeficiency is a prerequisite to the provision of genetic counselling.…”
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8731
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8732
Paysages du maïs au Mexique
Published 2021-11-01“…In situ conservation of crops, or conservation in farmers’ fields, has been a minor component in the conservation of genetic resources; ex situ methods have been the preferred option. …”
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8733
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8734
Kenosis o la idea de Dios en mí en el ritual del Santo Daime
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8735
Causal relationships between plasma lipidome and diabetic neuropathy: a Mendelian randomization study
Published 2025-01-01“…Further multivariable MR (MVMR) analysis demonstrated the effect of genetically predicted phosphatidylcholine (16:1_18:1) remained after adjusting for body mass index (BMI) and glycated hemoglobin (HbA1c). …”
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8736
Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings
Published 2023-01-01“…The bone marrow biopsy performed on our patient illustrates that the presence of dysplasia does not rule out hereditary PHA and further genetic testing should be done in the appropriate clinical scenario. …”
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8737
Ipsilateral Vestibular Schwannoma after Cochlear Implantation
Published 2022-01-01“…Based on the clinical findings and after genetic exclusion of NFII, the patient was classified as a NFII mosaic type. …”
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8738
Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report
Published 2025-01-01“…BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). …”
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8739
Expression and Function of the Homeostatic Molecule Del-1 in Endothelial Cells and the Periodontal Tissue
Published 2013-01-01“…Developmental endothelial locus-1 (Del-1) is an endothelial cell-secreted protein that limits the recruitment of neutrophils by antagonizing the interaction between the LFA-1 integrin on neutrophils and the intercellular adhesion molecule (ICAM)-1 on endothelial cells. Mice with genetic or age-associated Del-1 deficiency exhibit increased neutrophil infiltration in the periodontium resulting in inflammatory bone loss. …”
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8740
Sex differences in presentation of pheochromocytoma and paraganglioma
Published 2025-01-01“…The collected data included the mode of presentation, symptoms, biochemical, genetic and histopathological test results.ResultsThe mean age at surgery/diagnosis was 54.9 ± 17.0 years. …”
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