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Medical Genetics specialty

Known as: Genetics, Medical, genetics medical, Medical genetics 
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup… 
National Institutes of Health

Related topics

Related topics

13 relations
Anthropology, PhysicalChromosome AberrationsCongenital chromosomal diseaseDiseases in Twins

Broader (1)

Human Genetics

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
DNA variations in human and medical genetics: 25 years of my experience
DNA variations have contributed enormously to the fields of medical and forensic science, especially through their use in studies… 
Highly Cited
2008
Highly Cited
2008
Registration of Down syndrome in the Medical Birth Registry of Norway: Validity and time trends
Objective. To validate Down syndrome registration in the Medical Birth Registry of Norway (MBRN), 2001–2005, and study time… 
Review
2005
Review
2005
Knowledge, Perceptions, and Attitudes of Advanced Practice Nursing Students Regarding Medical Genetics
Purpose To describe the current medical genetic knowledge and perceptions of graduate advanced practice nursing (advanced… 
Review
2001
Review
2001
No pain relief from codeine...? An introduction to pharmacogenomics.
Drug treatment remains a mainstay of medicine. In some situations a drug unexpectedly has no effect, or unforeseen serious side… 
Highly Cited
1998
Highly Cited
1998
Evolutionary epidemiology and manic depression.
The reformulation of epidemiological prevalence rates as evolutionary frequency rates puts medical genetics within an explicit… 
Highly Cited
1997
Highly Cited
1997
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes.
As more mutations are identified in genes of known sequence, there is a crucial need in the areas of medical genetics and genome… 
Highly Cited
1978
Highly Cited
1978
Genetics and Medicine: an evolving relationship.
The rapid expansion of knowledge in human and medical genetics has revealed at least 6 percent average heterozygosity per… 
Review
1977
Review
1977
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience.
High school students (ages 15 to 18 years; No. = 930) taking biology in their curriculum were surveyed (the first survey), in the… 
Highly Cited
1976
Highly Cited
1976
Current concepts in genetics: principles of medical genetics (second of two parts).
There are still some who harbor the misconception that genetics deals only with the rare and exotic, or that those involved in… 
Highly Cited
1956
Highly Cited
1956
Hereditary forms of rickets and osteomalacia.
1. We have described here various forms of rickets and osteomalacia that we have studied ourselves and have come to recognise as… 
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