First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study.

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Last Posted: Aug 02, 2018

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• First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study.
  Nemescu Dragos et al. Ginekologia polska 2018 89(4) 205-10
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  Ukuhor Hyacinth O et al. Journal of pregnancy 2017 20174975091
• Banning Abortion in Cases of Down Syndrome: Important Lessons for Advances in Genetic Diagnosis.
  Reingold Rebecca B et al. JAMA 2018 Jun 319(23) 2375-2376
• [Application of next generation sequencing in congenital sensorineural deafness].
  Xu B et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 Jun 32(11) 811-815
• Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
  Ohashi Kei et al. Acta paediatrica (Oslo, Norway : 1992) 2017 Nov 106(11) 1817-1824
• Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
  Haggerty Christopher M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov 19(11) 1245-1252
• Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
  Klouwer Femke C C et al. Journal of inherited metabolic disease 2017 Nov 40(6) 875-881

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