Results 291 to 300 of about 1,730,988 (338)
Some of the next articles are maybe not open access.
Seminars in Pediatric Surgery, 2010
For many years karyotyping has been a successful tool to identify chromosome aberrations in congenital malformations. It has proven to be a highly reliable technique for identifying numerical chromosome changes and structural chromosomal rearrangements, such as deletions, duplications, translocations, or inversions.
de Klein, Annelies, Tibboel, Dick
openaire +2 more sources
For many years karyotyping has been a successful tool to identify chromosome aberrations in congenital malformations. It has proven to be a highly reliable technique for identifying numerical chromosome changes and structural chromosomal rearrangements, such as deletions, duplications, translocations, or inversions.
de Klein, Annelies, Tibboel, Dick
openaire +2 more sources
Introduction to Quantitative Genetics
Quantitative Genetics, 2012So far in this course we have dealt entirely either with the evolution of characters that are controlled by simple Mendelian inheritance at a single locus or with the evolution of molecular sequences.
G. Acquaah
semanticscholar +1 more source
Genetics and genetic testing for glaucoma
Current Opinion in Ophthalmology, 2017In recent decades, investigators have identified numerous genes and genetic factors that cause or contribute risk for glaucoma. These findings have increased our understanding of disease mechanisms, provided us with new diagnostic tools, and may allow for development of improved therapies for glaucoma. However, genetic testing is most useful when it is
Matthew A, Miller +2 more
openaire +2 more sources
Genetics and reverse genetics of rotavirus
Current Opinion in Virology, 2012Rotavirus is a member of the family Reoviridae, which have genomes consisting of 10-12 double-stranded RNA segments. The functions of proteins encoded by each segment of the rotavirus genome have been studied extensively by several methods including reassortants, temperature-sensitive mutants, isolates with rearranged RNA segments, RNAi analysis, and ...
Koki, Taniguchi, Satoshi, Komoto
openaire +2 more sources
Genetics in the art and art in genetics
Gene, 2015"Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art.
Nenad Bukvic, John W. Elling
openaire +2 more sources
[Genetics and genetic counseling].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2016Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease.
Izzi, Claudia +6 more
openaire +3 more sources
Genetics and the Origin of the Genetic Code
Origins of Life, 1974The genetic code has been analysed by a method similar to that used by Gregor Mendel. The current codon catalogue is shown to be symmetrically subdivisible into two discrete subcatalogues of eight quartets each by classifying the quartets as monocoding (for one amino acid only) vs heterocoding (for two amino acids or for amino acid plus nonsense).
openaire +2 more sources
Molecular Genetics and Genetic Variation
2010This chapter contains brief notes on molecular genetics, focusing on those aspects most frequently encountered in genetic epidemiology. The main sections cover the organisation and physical structure of genetic material, the mechanisms involved in transmitting genetic material from one generation to the next, and forms of genetic variation.
Mohammed-Elfatih, Twfieg, M Dawn, Teare
openaire +2 more sources
Genetics in medicine and medicine in genetics
The American Journal of Medicine, 1963Abstract The role of genetics in medicine is discussed in the framework of diagnosis, prognosis and treatment. The role of medicine in the advancement of genetics is illustrated with a list of ten leading discoveries in human genetics.
openaire +2 more sources
The Genetics of Schizophrenia is the Genetics of Neurodevelopment
British Journal of Psychiatry, 1991Genes are now accepted as being important in the aetiology of schizophrenia (Gottesman & Shields, 1982; McGuffinet al,1987), and over the past decade the emphasis in genetic research has shifted away from genetic epidemiology to searching the chromosomal DNA for the genes themselves. Despite this increasing technical sophistication, the application
P, Jones, R M, Murray
openaire +2 more sources

