Last Posted: Oct 31, 2019
- 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 practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt Claus H et al. European journal of endocrinology 2017 177(3) G1-G70 - Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi Berardo et al. Orphanet journal of rare diseases 2017 12(1) 69 - Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.
Dietz Andrew C et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Sep 23(9) 1422-1428 - Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.
Akers Amy et al. Neurosurgery 2017 May 80(5) 665-680 - Towards scaling Twitter for digital epidemiology of birth defects.
Klein Ari Z et al. NPJ digital medicine 2019 296 - Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.
Richards Stephanie et al. Journal of paediatrics and child health 2018 54(1) 14-19 - UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003-2013).
Szczepura A et al. Clinical genetics 2018 93(5) 972-981 - Ehlers-Danlos syndromes.
Ghali Neeti et al. BMJ (Clinical research ed.) 2019 Sep 366l4966
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