Birth defects [NEW TOPIC PAGE]

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Last Posted: Mar 12, 2020

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• Duchenne Muscular Dystrophy Education Series
  American Academy of Pediatrics
• [Clinical practice guidelines for alpha-thalassemia].
  Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 235-242
• [Fathoming of NIPT to further improve the efficiency of prenatal screening for birth defects].
  Hu Y L et al. Zhonghua fu chan ke za zhi 2020 Feb 55(2) 91-93
• Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
  Wei Yanping et al. Journal of neurology 2019 Oct 266(10) 2434-2439
• Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
  Berisha Stela Z et al. Birth defects research 2020 Mar 112(4) 293-306
• Is preparation a good reason for prenatal genetic testing? Ethical and critical questions.
  Michie Marsha et al. Birth defects research 2020 Mar 112(4) 332-338
• Mandatory newborn screening in the United States: History, current status, and existential challenges.
  McCandless Shawn E et al. Birth defects research 2020 Mar 112(4) 350-366
• The de-coders: A historical perspective of the genetic counseling profession.
  Cohen Leslie et al. Birth defects research 2020 Mar 112(4) 307-315
• Genetic counseling of high-risk isolated populations: A worldwide challenge.
  Sagi-Dain Lena et al. Birth defects research 2020 Mar 112(4) 316-320
• Fragile X-associated conditions: implications for the whole family.
  McKechanie Andrew G et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2019 Sep 69(686) 460-461

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