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Journal Abstract Search
125 related items for PubMed ID: 23183317
1. Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3. Kuipers BC, Vulto-van Silfhout AT, Marcelis C, Pfundt R, de Leeuw N, de Vries BB. Clin Dysmorphol; 2013 Jan; 22(1):18-21. PubMed ID: 23183317 [Abstract] [Full Text] [Related]
3. Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature. Tassano E, Uccella S, Severino M, Giacomini T, Nardi F, Gimelli G, Tavella E, Ronchetto P, Malacarne M, Coviello D. J Genet; 2021 Jan; 100():. PubMed ID: 33707360 [Abstract] [Full Text] [Related]
12. A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth. Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR. Eur J Med Genet; 2012 Oct; 55(10):564-7. PubMed ID: 22750323 [Abstract] [Full Text] [Related]
13. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Gene; 2012 Jan 15; 492(1):315-8. PubMed ID: 22062632 [Abstract] [Full Text] [Related]
15. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E. Orphanet J Rare Dis; 2013 Jan 07; 8():3. PubMed ID: 23294540 [Abstract] [Full Text] [Related]
18. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P. Eur J Med Genet; 2014 Apr 07; 57(5):200-6. PubMed ID: 24462886 [Abstract] [Full Text] [Related]