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Common Genetic Disorders

List of ebooks and manuals about Common Genetic Disorders

9 documents available in our comprehensive collection of Common Genetic Disorders resources. Find practical guides, tutorials, and documentation to enhance your knowledge.

Preview of Genetics Update
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Genetics Update (16_May07.pdf)

1.84 MBEN 16 pages
The European Society of Human Genetics (ESHG) is addressing concerns about the pace of progress in genetic healthcare, with many feeling that it's not changing
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Preview of A New Look at XXYY Syndrome: Medical and Psychological Features
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A New Look at XXYY Syndrome: Medical and Psychological Features (A-New-Look-at-XXYY-Syndrome.pdf)

276 KBEN 14 pages
XXYY syndrome occurs in approximately 1:18,000-1:40,000 males, with a similar physical phenotype to 47,XXY Klinefelter syndrome, but with additional medical...
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Preview of Depression
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Depression (depression.pdf)

2.38 MBCommunity Outreach & Public Education OfficeEN 12 pages
Depression is a severe illness affecting how one feels, thinks, and handles daily activities, caused by genetic, biological, environmental, and psychological
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Preview of Download
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Download (1-1-11-599.pdf)

874 KBDellEN 8 pages
The article discusses endocrine diseases, specifically focusing on the thyroid gland, parathyroid gland, and adrenal gland.
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Preview of NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy
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NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy (NRAP-Reduction.pdf)

1.39 MBEN 11 pages
Nemaline myopathy (NM) is a rare neuromuscular disorder caused by mutations in 12 genes, with recessive mutations in nebulin (NEB) being the most common cause
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Preview of ADHD & Cannabis Co-morbidity
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ADHD & Cannabis Co-morbidity (UWPACC 2022_01_20_Cannabis and ADHD.pdf)

841 KBCasey, CameronEN 28 pages
6-8% of children ages 2-18 in the US carry an ADHD diagnosis, making it the most common neurobiological disorder presenting in childhood
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Preview of Cigarette Smoke Exposure Animal Models of COPD: Procedural Variations and Apparatus
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Cigarette Smoke Exposure Animal Models of COPD: Procedural Variations and Apparatus (pdf-143005-71104)

627 KBEN 8 pages
This review article explores various animal models induced by cigarette smoke exposure to study chronic obstructive pulmonary disease (COPD), highlighting procedural variations and the apparatus used in research. It provides an overview of current methods and tools in...
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Preview of The low-protein diet in PKU: Its effects on gut health
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The low-protein diet in PKU: Its effects on gut health (NHD_CPD_Vol_11.03.pdf)

1.33 MBEN 5 pages
This eArticle by Suzanne Ford, RD, discusses the dietary management of Phenylketonuria (PKU), emphasizing the need for low-protein products and a protein substitute free of neurotoxic phenylalanine (Phe) in the absence of pharmaceutical treatments, as per European guidelines.
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Preview of Fabry disease prescribing info
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Fabry disease prescribing info (103979s5135lbl.pdf)

505 KBfda/cderEN 18 pages
The main indication is Fabry disease, which is a rare genetic disorder
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