Last Posted: Jul 24, 2020
- Kabuki syndrome: international consensus diagnostic criteria.
Adam Margaret P et al. Journal of medical genetics 2019 56(2) 89-95
- A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub Sherene et al. Journal of vascular surgery 2020 71(1) 149-157
- Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li Jiacheng et al. Science China. Life sciences 2019 Dec 62(12) 1630-1637
- CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.
Yang Lan et al. Database : the journal of biological databases and curation 2020 Jan 2020
- Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
Yamamura Tomohiko et al. Molecular genetics & genomic medicine 2019 7(9) e883
- Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center.
Shikany Amy R et al. Journal of genetic counseling 2019 28(4) 779-789
- [A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis].
Liu Weiqiang et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Jul 37(7) 701-708
- Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
- Genetics and pediatric hospital admissions, 1985 to 2017
S Giorgoski et al, Genetics in Medicine, June 22, 2020
- Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum.
Löwy Ilana et al. Social science & medicine (1982) 2020 May 113064
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