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Genetic Evaluation for Craniofacial Conditions
Facial Plastic Surgery Clinics of North America, 2016There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies.
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Genetic evaluation of the floppy infant
Seminars in Fetal and Neonatal Medicine, 2011Hypotonia in infants in the first year of life is a common diagnostic and management challenge for pediatricians and neonatologists. Several published clinical studies have shown that a substantial proportion of cases are accounted for by genetic disorders.
A N, Prasad, C, Prasad
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Genetic evaluation and counseling for epilepsy
Nature Reviews Neurology, 2010The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of both known and unknown cause. Simultaneously, advances in molecular technology foreshadow additional discoveries in epilepsy etiology, implying a greater ...
Pal, Deb K. +2 more
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Genetics Based Fault-Tolerant Evaluation System
OPSEARCH, 1997zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Chandrasekaran, S. +3 more
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1981
Measuring the impact of an increased mutation rate on future human generations is a two-fold problem: First one must assess the damage to the genetic material itself, and second, one must determine the likely effect of such damage on the welfare of future generations.
James F. Crow, Carter Denniston
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Measuring the impact of an increased mutation rate on future human generations is a two-fold problem: First one must assess the damage to the genetic material itself, and second, one must determine the likely effect of such damage on the welfare of future generations.
James F. Crow, Carter Denniston
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Evaluating Genetic Heterogeneity in Complex Disorders
Human Heredity, 2002<i>Objectives:</i> The Admixture test is routinely used in linkage analysis to take account of genetic heterogeneity, and yields an estimate of the proportion of families (α) segregating the linked disease gene. In complex disorders, the assumptions of the Admixture test are violated.
Pal, Deb K, Greenberg, David A
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Sperm evaluation in human genetic monitoring
Reproductive Toxicology, 1988Health hazards, including reproductive hazards, resulting from exposure to mutagenic chemical or physical agents are a major concern. Human genetic monitoring is a relatively new approach to the evaluation of human population exposure to mutagens that is based on the use of short-term tests with human cells (including sperm), tissues, and body fluids ...
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Genetic Evaluation and Testing
2016Genetic evaluation for cancer susceptibility is becoming an integral part of medical care. This chapter provides an update on the genetic basis of breast cancer including genes recently identified which are associated with low to moderate risk for developing breast cancer. Approaches to genetic testing for breast cancer risk are explained. Implications
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Genetic Evaluation of Inherited Muscle Diseases
Continuum, 2011Inherited muscle diseases are common and can present to the neurologist as anything from an incidentally found high creatine kinase level with muscle soreness in an adult to severe weakness at birth. Although a vast number of gene mutations can cause muscle degeneration, a solid understanding of the clinical presentation and gene diagnostic methods of ...
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Mastocytosis: A Clinical Genetic Evaluation
Journal of Heredity, 1970V J, Selmanowitz, N, Orentreich
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