Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Cystic Fibrosis and PAH[original query] |
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| A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. Journal of medical genetics 2016 Feb . North Teri-Louise, Ben-Shlomo Yoav, Cooper Cyrus, Deary Ian J, Gallacher John, Kivimaki Mika, Kumari Meena, Martin Richard M, Pattie Alison, Sayer Avan Aihie, Starr John M, Wong Andrew, Kuh Diana, Rodriguez Santiago, Day Ian N |
| A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of personalized medicine 2020 9 10 (3): . Kiseleva Anna V, Klimushina Marina V, Sotnikova Evgeniia A, Divashuk Mikhail G, Ershova Alexandra I, Skirko Olga P, Kurilova Olga V, Zharikova Anastasia A, Khlebus Eleonora Yu, Efimova Irina A, Pokrovskaya Maria S, Slominsky Petr A, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
| Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. Journal of personalized medicine 2022 7 12 (7): . Sotnikova Evgeniia A, Kiseleva Anna V, Kutsenko Vladimir A, Zharikova Anastasia A, Ramensky Vasily E, Divashuk Mikhail G, Vyatkin Yuri V, Klimushina Marina V, Ershova Alexandra I, Revazyan Karina Z, Skirko Olga P, Zaicenoka Marija, Efimova Irina A, Pokrovskaya Maria S, Kopylova Oksana V, Glechan Anush M, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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