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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 
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… 
National Institutes of Health

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Narrower (46)

ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIAATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISIONAarskog syndromeAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
In BloodSex Chromosome Aberrationsnursing therapyprevention & 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
Aims The causes of intellectual disability, which affects 1%–3% of the general population, are highly heterogeneous and the… 
2007
2007
Protein chip for detection of DNA mutations.
A large number of human genetic diseases, bacterial drug resistances, and single-nucleotide polymorphisms are caused by gene… 
Review
2005
Review
2005
Molecular diagnosis of ATP-binding cassette transporter-related diseases
ATP-binding cassette (ABC) transporters are involved in a variety of physiologic processes such as xenobiotic defense, lipid… 
Review
2003
Review
2003
The importance of alternative splicing in the drug discovery process
2003
2003
Chromosome rearrangements in isolates that escape from het-c heterokaryon incompatibility in Neurospora crassa
Abstract Chromosomal rearrangement is implicated in human cancers and hereditary diseases. Mechanisms generating chromosomal… 
1998
1998
Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene
Cystic fibrosis is a common human genetic disease caused by mutations in CFTR, a gene that codes for a chloride channel that is… 
1997
1997
Identification, partial characterization, and genetic mapping of kinesin-like protein genes in mouse.
Microtubule-dependent motors of the kinesin superfamily have undergone structural and functional diversification during evolution… 
Review
1994
Review
1994
Genetic diseases of hearing
The study of genetic hearing loss has always been hindered by the difficulty of separating sporadic genetic cases from cases… 
1987
1987
Genetic diseases associated with DNA and chromosomal instability.
1966
1966
Genetic diseases, chromosome rearrangements, and malignancy.
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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