Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 5 (of 5 Records) |
| Query Trace: Mosaic Trisomy 8[original query] |
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| SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. American journal of medical genetics. Part A 2015 Oct 167 (10): 2319-26. Stark Zornitza, Behrsin Joanna, Burgess Trent, Ritchie Anna, Yeung Alison, Tan Tiong Y, Brown Natasha J, Savarirayan Ravi, Patel Ne |
| [Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 2 37 (2): 190-194. Yan Dongmei, Zhao Yali, Wang Zhiwei, Yin Ting, Yang Shuting, Tang Xinxin, Wang Leil |
| Identification of aneuploidy in dogs screened by a SNP microarray. Human genetics 2021 7 140 (11): 1619-1624. Shaffer Lisa G, Hopp Bradley, Switonski Marek, Zahand Adam, Ballif Blake |
| Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease. Journal of Crohn's & colitis 2022 Jul . Dirvanskyte Paulina, Gurram Bhaskar, Bolton Chrissy, Warner Neil, Jones Kelsey D J, Griffin Helen R, , Park Jason Y, Keller Klaus-Michael, Gilmour Kimberly C, Hambleton Sophie, Muise Aleixo M, Wysocki Christian, Uhlig Holm |
| Different effects of maternal homocysteine concentration, MTHFR and MTRR genetic polymorphisms on the occurrence of fetal aneuploidy. Reproductive biomedicine online 2022 Jul . Guo Qian-Nan, Wang Ling, Liu Zheng-Yan, Wang Hong-Dan, Wang Li, Long Jian-Gang, Liao Shi-X |
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