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Genetic Diseases, X-Linked
Known as:
Genetic Diseases, X-Linked [Disease/Finding]
, X-Linked Genetic Disease
, Genetic Diseases, X Chromosome Linked
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Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included…
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National Institutes of Health
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Related topics
Related topics
50 relations
Narrower (46)
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
Aarskog syndrome
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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In Blood
Sex Chromosome Aberrations
nursing therapy
prevention & control
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
I. Madrigal
,
M. I. Álvarez-Mora
,
+9 authors
M. Milá
Journal of Clinical Pathology
2014
Corpus ID: 1688218
Aims The causes of intellectual disability, which affects 1%–3% of the general population, are highly heterogeneous and the…
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2007
2007
Protein chip for detection of DNA mutations.
Xian-En Zhang
,
L. Bi
Methods in molecular biology
2007
Corpus ID: 21761224
A large number of human genetic diseases, bacterial drug resistances, and single-nucleotide polymorphisms are caused by gene…
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Review
2005
Review
2005
Molecular diagnosis of ATP-binding cassette transporter-related diseases
M. Schuierer
,
T. Langmann
Expert Review of Molecular Diagnostics
2005
Corpus ID: 43252404
ATP-binding cassette (ABC) transporters are involved in a variety of physiologic processes such as xenobiotic defense, lipid…
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Review
2003
Review
2003
The importance of alternative splicing in the drug discovery process
E. Levanon
,
R. Sorek
2003
Corpus ID: 2453365
2003
2003
Chromosome rearrangements in isolates that escape from het-c heterokaryon incompatibility in Neurospora crassa
Q. Xiang
,
N. Glass
Current Genetics
2003
Corpus ID: 23286484
Abstract Chromosomal rearrangement is implicated in human cancers and hereditary diseases. Mechanisms generating chromosomal…
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1998
1998
Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene
J. Wine
,
D. Glavač
,
+5 authors
M. Dean
Mammalian Genome
1998
Corpus ID: 1924032
Cystic fibrosis is a common human genetic disease caused by mutations in CFTR, a gene that codes for a chloride channel that is…
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1997
1997
Identification, partial characterization, and genetic mapping of kinesin-like protein genes in mouse.
Zhaohuai Yang
,
David W. Hanlon
,
Joseph R. Marszalek
,
Lawrence S. B. Goldstein
Genomics
1997
Corpus ID: 43307410
Microtubule-dependent motors of the kinesin superfamily have undergone structural and functional diversification during evolution…
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Review
1994
Review
1994
Genetic diseases of hearing
T. Spillmann
Current Opinion in Neurology
1994
Corpus ID: 37869659
The study of genetic hearing loss has always been hindered by the difficulty of separating sporadic genetic cases from cases…
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1987
1987
Genetic diseases associated with DNA and chromosomal instability.
Lambert Wc
1987
Corpus ID: 57493440
1966
1966
Genetic diseases, chromosome rearrangements, and malignancy.
J. Grouchy
1966
Corpus ID: 70659621
Excerpt The first observations by German (1) and German, Archibald, and Bloom (2) on Bloom's syndrome and by Schroeder, Anschutz…
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