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Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: wang m. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler DE, Ling L, Gamage D, Baker EK, Bui M, Field MJ, Rogers C, Butler MG, Murgia A, Leonardi E, Polli R, Schwartz CE, Skinner CD, Alliende AM, Santa Maria L, Pitt J, Greaves R, Francis D, Oertel R, Wang M, Simons C, Amor DJ. Godler DE, et al. Among authors: wang m. JAMA Netw Open. 2022 Jan 4;5(1):e2141911. doi: 10.1001/jamanetworkopen.2021.41911. JAMA Netw Open. 2022. PMID: 34982160 Free PMC article.
Screening parameters for diagnosing primary aldosteronism in patients with moderate to severe obstructive sleep apnea hypopnea syndrome and resistant hypertension.
Yan D, Zou X, Li X, Zeng Q, He H, Guo J, Wang Y, Zheng H, Fu J, Wang M, Peng D, Zhou X, Luo X, Luo J, Li S, Liu J, Hu P, Shen Y. Yan D, et al. Among authors: wang m. Front Cardiovasc Med. 2024 Apr 24;11:1383567. doi: 10.3389/fcvm.2024.1383567. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38720919 Free PMC article.
62,493 results
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