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Results 1 - 10 of 12 for Additional diagnosis
  1. ... lentis caused by FBN1 gene mutations later develop additional features ... cases, the diagnosis often changes from isolated ectopia lentis to Marfan ...
  2. ... Schulz A, Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2): ...
  3. ... Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4): ...
  4. ... Ronnett BM. Hydatidiform Moles: Genetic Basis and Precision Diagnosis. Annu Rev Pathol. 2017 Jan 24;12:449- ...
  5. ... A, Casanova JL, Morio T, Kobayashi M. Simple diagnosis of STAT1 gain-of-function alleles in patients ...
  6. ... replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012 Jun;20(6): ...
  7. ... of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec; ...
  8. ... of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec; ...
  9. ... causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. Mol Hum Reprod. 2011 Dec;17(12):762- ...
  10. ... of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec; ...
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