Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and ACADM[original query] |
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| Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Human mutation 2005 May 25 (5): 443-52. Maier Esther M, Liebl Bernhard, Röschinger Wulf, Nennstiel-Ratzel Uta, Fingerhut Ralph, Olgemöller Bernhard, Busch Ulrich, Krone Nils, v Kries Rüdiger, Roscher Adelbert |
| Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. PloS one 2012 7 (9): 9. Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U |
| A genome-wide assessment of variability in human serum metabolism.
Human mutation 2012 Dec . Hong MG, Karlsson R, Magnusson PK, Lewis MR, Isaacs W, Zheng LS, Xu J, Grönberg H, Ingelsson E, Pawitan Y, Broeckling C, Prenni JE, Wiklund F, Prince JA |
| 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 |
| Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.
Journal of the American Heart Association 2019 May 8 (10): e011922. Jia Qiong, Han Yi, Huang Pin, Woodward Nicholas C, Gukasyan Janet, Kettunen Johannes, Ala-Korpela Mika, Anufrieva Olga, Wang Qin, Perola Markus, Raitakari Olli, Lehtimäki Terho, Viikari Jorma, Järvelin Marjo-Riitta, Boehnke Michael, Laakso Markku, Mohlke Karen L, Fiehn Oliver, Wang Zeneng, Tang W H Wilson, Hazen Stanley L, Hartiala Jaana A, Allayee Hoom |
| Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China. Clinica chimica acta; international journal of clinical chemistry 2022 9 536 155-161. Tian Yuan, Zhu Xinyun, Lv Shubo, Jia Chenlu, Zhang Linlin, Ni Min, Xu Yizhuo, Peng Rui, Liu Suna, Zhao Deh |
| Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny |
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