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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.
2020
2020
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect
M. Melis
,
A. Molari
,
+9 authors
G. Defazio
Neurogenetics
2020
Corpus ID: 218898388
In genetic prion diseases (gPrD), five genetic variants (E200K, V210I, V180I, P102L, and D178N) are responsible for about 85% of…
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2017
2017
Identification of Genetic Diseases Using Breast Milk Cell Analysis: The Case of Transient Neonatal Zinc Deficiency (TNZD)
Y. Golan
,
B. Yerushalmi
,
E. Efrati
,
Y. Assaraf
2017
Corpus ID: 4672278
Infants exclusively breastfed with zinc-deficient milk, develop transient neonatal zinc deficiency (TNZD) due to inactivating…
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2016
2016
RNAi-based Gene Therapy for Blood Genetic Diseases
Mengyu Hu
,
Q. Ni
,
Yuxia Yang
,
Jianyuan Luo
2016
Corpus ID: 51832680
Therapies for blood genetic diseases can be divided into different categories, including chemotherapy, radiotherapy, gene therapy…
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2015
2015
Ethical Issues Raised by the Clinical Implementation of New Diagnostic Tools for Genetic Diseases in Children: Array Comparative Genomic Hybridization (aCGH) as a Case Study
S. Julia
,
Alexandra Soulier
,
+11 authors
Thomsen Ac
2015
Corpus ID: 54746320
High throughput genetic technologies offer the opportunity to gain precision in the diagnosis of numerous diseases and to better…
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2012
2012
Epidemiology of Genetic Diseases in the Indian Subcontinent
I. Verma
,
Dhavendra Kumar
2012
Corpus ID: 78310859
2011
2011
Bone: Evidence for local effects of LRP5 on bone mass
Sarah Price
Nature Reviews Rheumatology
2011
Corpus ID: 28105050
The question of how LRP5 (LDL receptor-related protein 5) exerts its effects on bone formation has come under debate. New…
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2010
2010
Association of Pericentric Inversion of Chromosome (inv[9] [p11q13]) and Genetic DiseasesResponse From the Original Authors
Linda M Johnson
,
O. Hallıoglu
,
E. Akbas
2010
Corpus ID: 75445350
I am writing in reference to an article in the February 2010 issue (p 96–98), which presented a case of a specific chromosomal…
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Review
2010
Review
2010
The importance of genetics in the diagnosis of animal diseases - a review.
K. Soetan
2010
Corpus ID: 55605368
Genetic diseases have always been present in the animal population but their significance has increased in recent decades. The…
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Review
1990
Review
1990
Towards Understanding Human Genetic Diseases
J. Fox
,
J. Brunt
Bio/Technology
1990
Corpus ID: 12801847
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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