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Canalization, Cryptic Variation, and Developmental Buffering: A
Canalization, Cryptic Variation, and Developmental Buffering: A

... the historical and logical reasons for the different definitions (Debat and David, 2001; Nijhout and Davidowitz, 2003). After providing a brief overview of these definitions, I will outline some empirical metrics for canalization given the different definitions. Broadly speaking, there are two main ...
Human Variation 7
Human Variation 7

... chemicals. Many of these features influence susceptibility to disease and other forces of natural selection. Continued selection over time has produced adaptations of local populations to the environments in which they live. Much of human biological variation is geographic; that is, there are differ ...
Toward a therapy for mitochondrial disease
Toward a therapy for mitochondrial disease

... Bioenergetic defects and reduced ATP synthesis are key features of mitochondrial diseases and increasing mitochondrial mass or activity can thus be beneficial. The transcriptional co-activator peroxisome proliferatoractivated receptor-γ1 (PGC1) α is the master regulator of mitochondrial biogenesis. P ...
Genetic variation in eggshell crystal size and orientation is large and
Genetic variation in eggshell crystal size and orientation is large and

Spectrum of Mutations in MMAB Identified by
Spectrum of Mutations in MMAB Identified by

... of L-methylmalonyl-CoA to succinyl-CoA. Somatic cells studies have been used to evaluate patient samples for cobalamin related disorders. Due to high basal levels of propionate incorporation, some patients with mild MMA biochemical phenotypes cannot be diagnosed by complementation analysis. A high r ...
Further Reading
Further Reading

... and the same el®n facial features in patients. For a time, it was considered a genetic disorder of unknown ...
Procedure - Peevyhouse
Procedure - Peevyhouse

... Number of “A” Alleles Present at the Fifth Generation Number of genotype AA __________ x 2 = __________ A alleles Number of genotype Aa __________ x 1 = __________ A alleles Total= __________ A alleles p= ...
Generation Means Analysis of the Twin
Generation Means Analysis of the Twin

... of the ear inside the innermost husk. The branch is also enclosed in several husks, but rarely has well-developed seeds, although the rows are extremely distinct. Frontispiece, a maize variety that originated from the Pawnee Indians of Nebraska, typically has ears consisting of four-rowed branches a ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)

... ability to identify mutation, should immediately lead to improved diagnosis and counseling. Understanding the molecular pathology may also lead to insight into related diseases eventually leading to more effective treatment including gene therapy. Isolation of genes in childhood itself can prevent i ...
Novel familial cases of ICCA (infantile convulsions with paroxysmal
Novel familial cases of ICCA (infantile convulsions with paroxysmal

... Epileptic Disord Vol. 12, No. 3, September 2010 ...
video slide
video slide

... responsible for the multiple symptoms of certain hereditary diseases, such as cystic fibrosis and sickle-cell disease ...
Divergent selection and heterogeneous genomic
Divergent selection and heterogeneous genomic

The geography of introgression in a patchy environment and the
The geography of introgression in a patchy environment and the

... at neutral loci unlinked to any selected locus rather depends on geographic connectivity at a large scale (e.g. IsolationBy-Distance or IBD), although these loci often display GEA at a small scale. This discrepancy has been repeatedly taken as evidence for parallel primary divergence driven by local ...
The geography of introgression in a patchy
The geography of introgression in a patchy

... at neutral loci unlinked to any selected locus rather depends on geographic connectivity at a large scale (e.g. IsolationBy-Distance or IBD), although these loci often display GEA at a small scale. This discrepancy has been repeatedly taken as evidence for parallel primary divergence driven by local ...
http://www.gse-journal.org/articles/gse/pdf/1996/06/GSE_0999-193X_1996_28_6_ART0003.pdf
http://www.gse-journal.org/articles/gse/pdf/1996/06/GSE_0999-193X_1996_28_6_ART0003.pdf

... derived for estimating position and variance contribution of a single QTL together with additive polygenic and residual variance components. The REML analysis was implemented with a derivative-free algorithm. The method overcomes the shortcomings of the traditional methods of linear regression (eg, ...
Overview: Alcohol and Nicotine Use and Dependence: Common
Overview: Alcohol and Nicotine Use and Dependence: Common

... becoming regular smokers, an outcome that usually precedes the onset of alcohol dependence. ...
Multiple Roles of the Y Chromosome in the Biology of
Multiple Roles of the Y Chromosome in the Biology of

... gene, relatively to the others, in any given chromosome. In 1909, Sir A.E. Garrod first pointed out that many human diseases related to recessive traits are due to metabolic defects[7]. However, only in 1941 did the experiments by Beadle and Tatum on Neurospora crassa allow the generalization statin ...
Means (*) and standard deviation (s) of quantitative
Means (*) and standard deviation (s) of quantitative

... becoming regular smokers, an outcome that usually precedes the onset of alcohol dependence. ...
Do gametes woo? Evidence for non-random unions at
Do gametes woo? Evidence for non-random unions at

... Normal segregation in backcrosses between heterozygotes and WT homozygotes argues that meiosis and gametogenesis function normally in each sex. Six cases involve single spontaneous or engineered mutations on an inbred genetic background. In another case, biased segregation was found only in crosses ...
Abundant Genetic Overlap between Blood Lipids and Immune
Abundant Genetic Overlap between Blood Lipids and Immune

... disorders that cannot be elucidated by observational epidemiological and clinical studies. Genetic epidemiology approaches offer great promise for delineating the underlying basis of shared phenotypic correlations[6]. Traditional genome wide association studies (GWAS) have provided valuable insights ...
Note: Alleles are alternative forms of a, gene which occupies a
Note: Alleles are alternative forms of a, gene which occupies a

1 Autism: Recent Research and a Brief Personal Story Randy Martin
1 Autism: Recent Research and a Brief Personal Story Randy Martin

... 4. Community support and parent training. Support and advocacy groups for autism are available at the local level in most areas. Unfortunately, the history of treatments for autism includes not just the good, but the bad and the ugly as well—from well intentioned but questionable alternate therapie ...
Richard Goldschmidt: hopeful monsters and other `heresies`
Richard Goldschmidt: hopeful monsters and other `heresies`

... and could devote his full energy to research. Because the production of intersexes depended on the mating of different geographical varieties, Goldschmidt made three trips to Japan between 1914 and 1934 to collect Asian varieties to cross with European varieties. As a result of these trips, Goldschm ...
How to minimize “bubble-ascus” abortion in crosses for cytology. Background
How to minimize “bubble-ascus” abortion in crosses for cytology. Background

... have shown that vegetatively normal haploid isolates from natural populations carry on average one or more deleterious recessive mutations that can be detected when made homozygous by backcrossing. In constructing the widely used Oak Ridge N. crassa wild type strains for use as standards, backcrosse ...
Slide 1
Slide 1

... and severe = 0.5% (range = 0.16-0.73%) and profound = 0.05% . Mild LD is more common in lower than higher social classes. However, findings of association between social class and severe LD has been inconsistent. Learning disability is marginally more common in males. Mental retardation can be linke ...
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Medical genetics

Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.
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