scholarly journals Large-scale population screening for spinal muscular atrophy: Clinical implications

2011 ◽  
Vol 13 (2) ◽  
pp. 110-114 ◽  
Author(s):  
Shay Ben-Shachar ◽  
Avi Orr-Urtreger ◽  
Eyal Bardugo ◽  
Ruth Shomrat ◽  
Yuval Yaron
Keyword(s):  
Spinal Muscular Atrophy ◽  
Large Scale ◽  
Muscular Atrophy ◽  
Population Screening ◽  
Clinical Implications ◽  
Scale Population

scholarly journals Is large-scale population screening coming to psychiatry?

2020 ◽  
Vol 2 (5) ◽  
pp. e210-e211
Author(s):  
Ioana Alina Cristea ◽  
Florian Naudet
Keyword(s):  
Large Scale ◽  
Population Screening ◽  
Scale Population

The feasibility of large scale population screening

1985 ◽  
Vol 72 (S1) ◽  
pp. s71-s72 ◽  
Author(s):  
G. Ekelund ◽  
U. Carlsson ◽  
L. Janzon
Keyword(s):  
Large Scale ◽  
Population Screening ◽  
Scale Population

scholarly journals Large scale population screening for Duchenne muscular dystrophy – Preliminary results

2022 ◽  
Vol 226 (1) ◽  
pp. S347
Author(s):  
Gal Cohen ◽  
Atalia Shtorch-Asor ◽  
Racheli Goldfarb-Yaacobi ◽  
Meirav Kaiser ◽  
Revital Rosenfeld ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Large Scale ◽  
Population Screening ◽  
Preliminary Results ◽  
Scale Population

scholarly journals Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

2020 ◽  
Vol 40 (4) ◽  
pp. 326-330
Author(s):  
Jong Eun Park ◽  
Sun Ae Yun ◽  
Eun Youn Roh ◽  
Jong Hyun Yoon ◽  
Sue Shin ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Carrier Frequency ◽  
Large Scale ◽  
Muscular Atrophy ◽  
Korean Population

A Blood Spot Assay for Apo A1 and B Lipoproteins and the Apo B/A1 Ratio

1993 ◽  
Vol 30 (5) ◽  
pp. 476-481 ◽  
Author(s):  
A D Hirst ◽  
K Beswick
Keyword(s):  
Blood Sample ◽  
Large Scale ◽  
Dried Blood Spots ◽  
Population Screening ◽  
Apo B ◽  
Blood Constituents ◽  
Blood Spots ◽  
Accuracy And Precision ◽  
Scale Population ◽  
Blood Spot

A study of conditions for the elution of apo A1 and B lipopoproteins from dried blood spots has led to the development of an apo B/A1 ratio assay with results for dried blood spots which are comparable with serum assays. This assay has been developed to be suitable for large scale population screening. The concept of measuring ratios for co-eluting blood constituents improves the accuracy and precision of blood spot assays and opens up the possibility that patients could take their own blood sample and send it to the laboratory by post.

scholarly journals A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia

2013 ◽  
Vol 15 (5) ◽  
pp. 642-651 ◽  
Author(s):  
Wanjun Zhou ◽  
Ge Wang ◽  
Xuefeng Zhao ◽  
Fu Xiong ◽  
Shaoxiong Zhou ◽  
...  
Keyword(s):  
Large Scale ◽  
Gene Dosage ◽  
Population Screening ◽  
Multiplex Qpcr ◽  
Scale Population
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