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1.
Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
J Paediatr Child Health
; 51(3): 271-9, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24923490
2.
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.
Med J Aust
; 197(11): 652-4, 2012 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23230938
3.
High accuracy of HLA-B*27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population compared to flow cytometry and single nucleotide polymorphism detection assays.
Pathology
; 52(2): 256-261, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31902620
4.
Tay-Sachs disease: current perspectives from Australia.
Appl Clin Genet
; 8: 19-25, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25653550
5.
The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.
J Law Med
; 10(4): 506-13, 2003 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12852322
6.
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
Eur J Med Genet
; 55(3): 178-84, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22326837
7.
Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.
J Community Genet
; 2(4): 201-9, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22109873
8.
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Nat Genet
; 42(6): 486-8, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20473311
9.
Outcomes of a cystic fibrosis carrier testing clinic for couples.
Med J Aust
; 191(9): 499-501, 2009 Nov 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-19883345
10.
Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program.
Genet Med
; 7(7): 484-94, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16170240
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