Last Posted: Nov 08, 2019
- Attitudes toward prenatal screening for chromosomal abnormalities: A focus group study.
Munro Sarah et al. Women and birth : journal of the Australian College of Midwives 2019 Aug 32(4) 364-371 - Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
Qin Litao et al. Scientific reports 2018 8(1) 12721 - 22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Cohen Jennifer L et al. American journal of medical genetics. Part A 2018 176(10) 2203-2214 - Molecular genetics of 22q11.2 deletion syndrome.
Morrow Bernice E et al. American journal of medical genetics. Part A 2018 176(10) 2070-2081 - Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.
Shiran S I et al. AJNR. American journal of neuroradiology 2018 39(10) 1943-1946 - What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell Ian M et al. American journal of medical genetics. Part A 2018 176(10) 2058-2069 - Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct - Current landscape of prenatal genetic screening and testing.
Krstic Nevena et al. Birth defects research 2019 Oct - Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
Galatolo Daniele et al. Neurogenetics 2018 19(1) 1-8 - Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era.
Rieder Wawrzyniec et al. The Australian & New Zealand journal of obstetrics & gynaecology 2018 58(4) 397-403
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