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Autosomale

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14 documents available in our comprehensive collection of Autosomale resources. Find practical guides, tutorials, and documentation to enhance your knowledge.

Preview of Download Investigation and management of WD full guidance_Apr 22.pdf
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Download Investigation and management of WD full guidance_Apr 22.pdf (Investigation and management of WD full guidance_Apr 22.pdf)

584 KBSamuel ShribmanEN 67 pages
Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic, neurological, psychiatric, and ophthalmological manifestations.
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Preview of Lamin B1 Regulation
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Lamin B1 Regulation (Nmezi_Bruce_Dissertation_August2019.pdf)

3.62 MBFudrow, John PEN 118 pages
The nuclear lamina, composed of lamins, maintains nuclear shape and function, and perturbations lead to laminopathies, including autosomal dominant...
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PDF (johansonblizzard-syndrome-a-report-of-genderdiscordant-twins-with-a-novel-ubr1-mutation.pdf)

496 KBEN 6 pages
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder caused by loss-of-function mutations in the UBR1 gene, characterized by exocrine...
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Download PDF (JAPLR-07-00256.pdf)

587 KBFiroz KhanEN 7 pages
Huntington's disease is an autosomal dominant neurodegenerative disorder caused by a mutation in the gene encoding the protein huntingtin, resulting in a polyQ...
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Preview of STUDY OF THE FREQUENCY OF DOWN SYNDROME IN A NORTH EAST INDIAN POPULATION
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STUDY OF THE FREQUENCY OF DOWN SYNDROME IN A NORTH EAST INDIAN POPULATION (study-of-the-frequency-of-down-syndrome-in-a-north-east-indian-population.pdf)

109 KBEN 4 pages
Down Syndrome (DS) or Trisomy 21 is the most common autosomal chromosomal abnormality in newborns, with an incidence varying from 1 in 600 to 1 in 1000 in...
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Preview of Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects
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Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects (Sandona_Sarcoglycanopathies_molecular_pathogenesis_and_therapeutic_prospects.pdf)

1.18 MBDorianna Sandonà, Romeo BettoEN 27 pages
Sarcoglycanopathies are autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins: a-, b-, g-, or...
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Preview of wimj_iss1_2016_219_221.pdf
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wimj_iss1_2016_219_221.pdf (wimj_iss1_2016_219_221.pdf)

4.13 MBEN 3 pages
A family survey of 47 members across four generations with seborrhoeic keratosis (SK) found 22 affected members, consistent with autosomal dominant...
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Preview of Kidney Stone Genetics
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Kidney Stone Genetics (41585_2020_332_MOESM1_ESM.pdf)

403 KBEN 4 pages
Idiopathic hypercalciuria (ADCY10, AD), Autosomal dominant hypocalcaemia (CASR, GNA11, AD), Bartter syndrome (NKCC2, ROMK, CLCNKB, BSND, CASR, CLCN5, AR and...
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Preview of دانلود رایگان مقاله انگلیسی
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دانلود رایگان مقاله انگلیسی (11233-English-IranArze.pdf)

1.57 MBShinkumaEN 10 pages
Dystrophic epidermolysis bullosa (DEB) is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen, leading to...
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Preview of Download Sample Report
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Download Sample Report (WES-Noncoding-Variant-Sample-Report-2022-Final.pdf)

416 KBBlueprint GeneticsEN 8 pages
A 29-year-old patient with intellectual disability, anemia, 5-oxoprolinuria, and retinitis pigmentosa was found to be homozygous for the GSS c.129+1663A>G...
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Preview of Vascular Ehlers-Danlos Syndrome
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Vascular Ehlers-Danlos Syndrome (1-s2.0-S1769721215300331-main.pdf)

369 KBMakrygiannis, G., Loeys, B., Defraigne, J.-O., SAKALIHASAN, N.EN 3 pages
A young woman with cervical artery dissection (CeAD) was found to have a novel missense mutation in the COL3A1 gene, associated with vascular type...
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View PDF (various-genes-involved-in-the-cause-of-breast-cancer.pdf)

351 KBTrebor OhlEN 2 pages
Breast cancer is the most common cancer diagnosed in women, accounting for more than 1 in 10 new cancer diagnoses every year, and is the second most common...
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Preview of https://www.acmg.net/docs/ACMG_Policy_Statememt_NIPS_May2013_GIM.pdf
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https://www.acmg.net/docs/ACMG_Policy_Statememt_NIPS_May2013_GIM.pdf (ACMG_Policy_Statememt_NIPS_May2013_GIM.pdf)

465 KBAnthony R. GreggEN 4 pages
The American College of Medical Genetics and Genomics (ACMG) believes genetic technology, particularly in prenatal settings, should be supported by clinical...
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Preview of <think>
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(hgv201545.pdf)

608 KBIngrid M WentzensenEN 3 pages
Document en en
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You can download PDF versions of the user's guide, manuals and ebooks about autosomale, you can also find and download for free A free online manual (notices) with beginner and intermediate resources.