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Journal Abstract Search
194 related items for PubMed ID: 31368252
21. Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Neuropediatrics; 2018 Jun; 49(3):217-221. PubMed ID: 29631299 [Abstract] [Full Text] [Related]
26. Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. Vandersteen AM, Dixon JW. Clin Dysmorphol; 2011 Oct 04; 20(4):210-213. PubMed ID: 21785343 [No Abstract] [Full Text] [Related]
32. [Adams-Oliver syndrome: a case with minimal expression]. Messerer M, Diabira S, Belliard H, Hamlat A. Arch Pediatr; 2010 Oct 04; 17(10):1460-4. PubMed ID: 20728324 [Abstract] [Full Text] [Related]
33. Adams-Oliver syndrome: a case report. Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA. Pediatr Dermatol; 2015 Oct 04; 32(3):383-5. PubMed ID: 25556654 [Abstract] [Full Text] [Related]
34. EOGT and O-GlcNAc on secreted and membrane proteins. Varshney S, Stanley P. Biochem Soc Trans; 2017 Apr 15; 45(2):401-408. PubMed ID: 28408480 [Abstract] [Full Text] [Related]
36. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Snape KM, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. Am J Med Genet A; 2009 Aug 15; 149A(8):1860-81. PubMed ID: 19610107 [Abstract] [Full Text] [Related]
37. A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome. Nieto-Benito LM, Suárez-Fernández R, Campos-Domínguez M. Mol Biol Rep; 2023 Jun 15; 50(6):5519-5521. PubMed ID: 37133614 [Abstract] [Full Text] [Related]
38. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. Am J Hum Genet; 2012 Aug 10; 91(2):391-5. PubMed ID: 22883147 [Abstract] [Full Text] [Related]