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PubMed 2918545 The association of Angelman's syndrome with deletions within 15q11-13. The inheritance of Angelman's 1.02 KB 2016-01-31 2 20
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PubMed 1348213 Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9 1.13 KB 2015-11-18 14 36
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PubMed 3063533 Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: revi 474 Bytes 2015-03-12 9 16
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PubMed 8592325 Evaluation of candidate genes for familial brachydactyly. Type A1 brachydactyly in humans is a recog 1.18 KB 2015-12-05 2 20
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PubMed 8923936 Distal arthrogryposis type 1: clinical analysis of a large kindred. We describe the clinical finding 766 Bytes 2015-12-07 2 28
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PubMed 1362220 Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman synd 1.51 KB 2015-11-22 2 12
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PubMed 1456285 Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2. We report 932 Bytes 2015-11-22 10 16
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PubMed 8786067 Angelman syndrome in an inbred family. Angelman syndrome (AS) is characterized by severe mental reta 1.12 KB 2015-12-06 2 24
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PubMed 18000979 Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. Mutations in 1.16 KB 2015-11-23 3 8
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PubMed 15385437 Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Angelman syndrome is 1.25 KB 2015-11-22 1 4
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