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89 results

  1. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/angelman-syndrome</url><title >Angelman syndrome</title><other_names ><other_name >AS</other_name></ ...
  2. ... 037 Akathisia, Drug-Induced C10.228.662.075 Angelman Syndrome C10.228.662.262 Dyskinesias C10.228.662. ... 077.065 Alagille Syndrome C16.131.077.095 Angelman Syndrome C16.131.077.121 Barth Syndrome C16.131. ...
  3. ... Dental findings and special care in patients with Angelman syndrome: a report of three cases. Spec Care Dentist. ... V, Stewart JM Jr., et al. Ankyloglossum superius syndrome: diagnosis and surgical management. J Craniofac Surg. 2007 Sep; ...
  4. ... 1 STXBP1 STXBP1 encephalopathy w/epilepsy AD UBE3A Angelman syndrome See footnote 2. Adapted from Leonard et al [ ... in an autosomal recessive manner. 2. Individuals with Angelman syndrome (AS) typically have the disorder as the result ...
  5. ... microcephaly; in particular, early presentations of Rett syndrome , Angelman syndrome , & infantile forms of neuronal ceroid lipofuscinosis (OMIM PS256730 ) ... of care for glucose transporter type 1 deficiency syndrome (Glut1DS) diagnosis and management has been published [ Klepper et al ...
  6. ... therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec;155( ... HD, et al. Epilepsy in Korean patients with Angelman syndrome. Korean J Pediatr. 2012 May;55(5):171– ...
  7. ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region (i.e., 15q11.2-q13) of ... their offspring are at risk for fragile X syndrome. Early diagnosis of fragile X syndrome. The first indication of ...
  8. ... gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine ...
  9. ... the features of Rett syndrome and signs and symptoms similar to Angelman syndrome (a condition characterized by intellectual disability, problems with ...
  10. ... enzyme function likely causes the major signs and symptoms of Angelman syndrome.Other abnormalities involving the region of chromosome 15 ...
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