Results 181 to 190 of about 63,005 (210)
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Integrated genetic databases in the study of neuropsychiatric diseases: Inborn errors of cerebral metabolic pathways?

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 1991
1. Genetic databases are an expanding and readily accessible repository of information on the mapping and sequencing of the human genome, and that of other model organisms. The integration and application of this information to neuropsychiatric disease is illustrated using neuroendocrine and neuropharmacologic data, computerized and other genetic ...
Edmond Edwards, Martine Jaworski
openaire   +2 more sources

ICIEM Abstracts

Journal of Inherited Metabolic Disease, 2013
Background: Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, infantile or childhood onset of cardioskeletal myopathy, and high mortality rates. It is currently unknown if BTHS related mitochondrial dysfunction results in substrate metabolism abnormalities and thereby contributes to cardioskeletal ...
M. Giovannini   +7 more
openaire   +6 more sources

Inborn errors of metabolism. Vitamin-responsive genetic disease.

Journal of clinical pathology. Supplement (Royal College of Pathologists), 1984
The several ways in which vitamin administration may bring about a biochemical response in genetic abnormalities have been discussed. Two major interrelated lessons emerge from what we now know about vitamin-responsive genetic disease. First, it is possible to enhance metabolite flow through partially deficient reactions by suitable manipulation of the
openaire   +1 more source

[Human genetic aspects of inborn ear, nose, and throat diseases].

HNO, 1985
The genetic analysis of malformations enables us to distinguish four groups of different anomalies: 1. Chromosomal disorders (gene and chromosome mutations). 2. Single (monogenic) hereditary anomalies and malformations (gene mutations: point-mutations). 3. Malformations with polygenic multifactorial basis (combination of genetic and exogenous factors).
openaire   +1 more source

Genetic testing in prostate cancer management: Considerations informing primary care

Ca-A Cancer Journal for Clinicians, 2022
Veda N Giri   +2 more
exaly  

Molecular imaging in oncology: Current impact and future directions

Ca-A Cancer Journal for Clinicians, 2022
Martin G Pomper, Steven P Rowe
exaly  

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Modern developments in germline pharmacogenomics for oncology prescribing

Ca-A Cancer Journal for Clinicians, 2022
Natalie M Reizine, Peter H O'donnell
exaly  

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