Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,154,065 papers from all fields of science
Search
Sign In
Create Free Account
Hereditary Diseases
Known as:
Disorder, Genetic
, Hereditary Disease
, heritable disorder
Expand
Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
48 relations
3-methylcrotonyl CoA carboxylase 1 deficiency
Acanthosis Nigricans
Alpers Syndrome (disorder)
Anemia of inadequate production
Expand
Narrower (14)
Acrodermatitis enteropathica
Congenital chromosomal disease
Congenital ichthyosis
Cutis Laxa
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Genetic programming for creating Chou’s pseudo amino acid based features for submitochondria localization
L. Nanni
,
A. Lumini
Amino Acids
2008
Corpus ID: 20996586
Given a protein that is localized in the mitochondria it is very important to know the submitochondria localization of that…
Expand
Highly Cited
1999
Highly Cited
1999
The Ecological Basis of Conservation: Heterogeneity, Ecosystems, and Biodiversity
K. Redford
,
S. Pickett
,
R. Ostfeld
,
M. Shachak
,
G. Likens
1999
Corpus ID: 39756011
Review
1998
Review
1998
A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus
K. Kidd
,
B. Morar
,
+11 authors
J. Kidd
Human Genetics
1998
Corpus ID: 7024044
Abstract A four-site haplotype system at the dopamine D2 receptor locus (DRD2) has been studied in a global sample of 28 distinct…
Expand
Highly Cited
1992
Highly Cited
1992
GENETIC AND ENVIRONMENTAL VARIATION IN FLORAL TRAITS AFFECTING OUTCROSSING RATE IN CLARKIA TEMBLORIENSIS (ONAGRACEAE)
T. Holtsford
,
N. Ellstrand
Evolution; international journal of organic…
1992
Corpus ID: 37157034
Clarkia tembloriensis exhibits a wide range of variation among its natural populations in outcrossing rate and in separation of…
Expand
Highly Cited
1990
Highly Cited
1990
Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases.
A. Tybjærg‐Hansen
,
J. Gallagher
,
+7 authors
N. Myant
Atherosclerosis
1990
Corpus ID: 29618500
Review
1989
Review
1989
Genetic toxicology of oxygen.
Hans Joenje
Mutation research
1989
Corpus ID: 2178678
Highly Cited
1989
Highly Cited
1989
Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification.
Hiroshi Okayama
,
David T. Curiel
,
Mark L. Brantly
,
Mark D. Holmes
,
R. G. Crystal
Journal of Laboratory and Clinical Medicine
1989
Corpus ID: 33961128
A simple, rapid, nonradioactive method has been developed to facilitate the direct detection of point mutations that cause…
Expand
Highly Cited
1984
Highly Cited
1984
Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.
N. Datta
,
Golder N Wilson
,
A. Hajra
New England Journal of Medicine
1984
Corpus ID: 30389053
The Zellweger cerebro-hepato-renal syndrome is a genetic disease characterized by the absence of peroxisomes and deficiency of…
Expand
Highly Cited
1984
Highly Cited
1984
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.
D. Drayna
,
K. Davies
,
+4 authors
R. White
Proceedings of the National Academy of Sciences…
1984
Corpus ID: 32567447
Using a human X chromosome-specific DNA library, we have found arbitrary single-copy DNA sequences that reveal useful restriction…
Expand
Highly Cited
1966
Highly Cited
1966
Familial dysautonomia.
J. Dancis
,
A. Smith
New England Journal of Medicine
1966
Corpus ID: 1642666
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE