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Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: sommer a. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Morris CA, et al. Among authors: sommer a. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496. Am J Med Genet A. 2003. PMID: 14556246
Craniofacial-deafness-hand syndrome revisited.
Sommer A, Bartholomew DW. Sommer A, et al. Am J Med Genet A. 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. Am J Med Genet A. 2003. PMID: 14556253
In 1983 Sommer described a new syndrome in a mother and her infant daughter which was subsequently called the syndrome of craniofacial, hand anomalies and sensorineural deafness. The syndrome consisted of a normal calvarium with a flat facial pr …
In 1983 Sommer described a new syndrome in a mother and her infant daughter which was subsequently called the syndrome …
Photo essay--Seckel syndrome.
Sommer A. Sommer A. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):230-1. doi: 10.1002/ajmg.c.30144. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640052 No abstract available.
Photo essay--Noonan syndrome.
Sommer A. Sommer A. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):273. doi: 10.1002/ajmg.c.30147. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640055 No abstract available.
1,152 results