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Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum Mutat. 2007 Aug;28(8):743-53. doi: 10.1002/humu.20501.
Hum Mutat. 2007.
PMID: 17407155
The Bloom's syndrome gene product is homologous to RecQ helicases.
Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J.
Ellis NA, et al. Among authors: ciocci s.
Cell. 1995 Nov 17;83(4):655-66. doi: 10.1016/0092-8674(95)90105-1.
Cell. 1995.
PMID: 7585968
Free article.
Item in Clipboard
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
Ellis NA, Ciocci S, Proytcheva M, Lennon D, Groden J, German J.
Ellis NA, et al. Among authors: ciocci s.
Am J Hum Genet. 1998 Dec;63(6):1685-93. doi: 10.1086/302167.
Am J Hum Genet. 1998.
PMID: 9837821
Free PMC article.
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Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.
Ellis NA, Ciocci S, German J.
Ellis NA, et al. Among authors: ciocci s.
Hum Genet. 2001 Feb;108(2):167-73. doi: 10.1007/s004390000447.
Hum Genet. 2001.
PMID: 11281456
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Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.
Straughen J, Ciocci S, Ye TZ, Lennon DN, Proytcheva M, Alhadeff B, Goodfellow P, German J, Ellis NA, Groden J.
Straughen J, et al. Among authors: ciocci s.
Genomics. 1996 Jul 1;35(1):118-28. doi: 10.1006/geno.1996.0330.
Genomics. 1996.
PMID: 8661112
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Agents of change: undergraduate students' attitudes following observations of speech-language pathology service delivery: preliminary findings.
Miller SM, Ciocci SR.
Miller SM, et al. Among authors: ciocci sr.
J Allied Health. 2013 Fall;42(3):141-6.
J Allied Health. 2013.
PMID: 24013243
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The use of conversational repair strategies by children who are deaf.
Ciocci SR, Baran J.
Ciocci SR, et al.
Am Ann Deaf. 1998 Jul;143(3):235-45. doi: 10.1353/aad.2012.0129.
Am Ann Deaf. 1998.
PMID: 9680730
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