Results 231 to 240 of about 10,831,444 (295)
Some of the next articles are maybe not open access.
Epilepsy genetics: clinical impacts and biological insights.
Lancet Neurology, 2020Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of ...
C. Ellis, S. Petrovski, S. Berkovic
semanticscholar +1 more source
Clinical mitochondrial genetics
Journal of Medical Genetics, 1999The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich’s ataxia,1 2 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the ...
P F, Chinnery +3 more
openaire +2 more sources
Pediatrics, 1954
Application of genetic theory to clinical situations must always remain, in a sense, unfinished business. In the nature of the circumstances it is impossible, and presumably will always remain impossible, to prove that a given trait is transmitted from man to man by the intervention of genes. The closest one can come to proof is to demonstrate that the
+4 more sources
Application of genetic theory to clinical situations must always remain, in a sense, unfinished business. In the nature of the circumstances it is impossible, and presumably will always remain impossible, to prove that a given trait is transmitted from man to man by the intervention of genes. The closest one can come to proof is to demonstrate that the
+4 more sources
Acta geneticae medicae et gemellologiae, 1961
The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”. If we were to choose a slogan that would best summarise our work at this Conference,
openaire +2 more sources
The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”. If we were to choose a slogan that would best summarise our work at this Conference,
openaire +2 more sources
Progress in retinal and eye research
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype ...
M. Georgiou +10 more
semanticscholar +1 more source
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype ...
M. Georgiou +10 more
semanticscholar +1 more source
Genetic imprinting in clinical genetics
Development, 1990ABSTRACT Genetic, and indeed genomic, imprinting does occur in humans. This is manifest at the level of the genome, the individual chromosome, subchromosomal region or fragile site, or the single locus. The best evidence at the single gene level comes from a consideration of familial tumour syndromes.
openaire +2 more sources
Artificial intelligence in clinical genetics
European Journal of Human GeneticsArtificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research.
D. Duong, Benjamin D. Solomon
semanticscholar +1 more source
ATR-X syndrome: genetics, clinical spectrum, and management
Human Genetics, 2021Nayla Y. León, V. Harley
semanticscholar +1 more source