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73 results

  1. ... Alvarez,N., Salas-Puig,J., Hernandez-Lahoz,C., Angelman syndrome and celiac disease, Revista Espanola de Enfermedades DigestivasRev. ... Current Gastroenterology Reports 9: 401–5. Narrative review (references ... syndrome. Gastroenterology 19: 674–97. Not RCD. ADLERSBERG D, ...
  2. ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region of chromosome 15 by one of ...
  3. ... of imprinted genes in the paternally derived PWS / Angelman syndrome region (15q11.2-q13) of chromosome 15 by ...
  4. ... of imprinted genes in the paternally derived PWS / Angelman syndrome region (15q11.2-q13) of chromosome 15 by ...
  5. ... phenotypic findings (i.e., clinical features of BWS & Angelman syndrome); assoc w/features of TNDM, SRS, & BWS. Mosaic ... KCNQ1OT1 Data are compiled from the following standard references: gene from ... Beckwith-Wiedemann Syndrome ( View All in OMIM ) View in own window ...
  6. ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. Bursts of laughter, macrostomia, tongue ...
  7. ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region of chromosome 15 by one of ... TK2 Data are compiled from the following standard references: gene from ... SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 Molecular Pathogenesis Mitochondrial DNA ( ...
  8. ... I (OMIM 203100 , 606952 ) 100% UBE3A UBE3AP2 UBE3AP1 Angelman syndrome ~11% VWF VWFP1 von Willebrand disease 100% AD = ...
  9. ... disorders such as autism and Prader-Willi or Angelman syndromes. MLPA can easily discriminate the relative copy number ...
  10. ... with bilateral massive adrenal hemorrhage 'the Waterhouse-Friderichsen syndrome) with special reference to I he pathology, the medicolegal aspects and ...
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