-
1
-
-
0032235315
-
Tay-Sachs disease carrier screening: A model for prevention of genetic disease
-
Kaplan F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genet Test 1998;2:271-292.
-
(1998)
Genet Test
, vol.2
, pp. 271-292
-
-
Kaplan, F.1
-
2
-
-
0027360434
-
Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network
-
Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993;270:2307-2315.
-
(1993)
JAM.A.
, vol.270
, pp. 2307-2315
-
-
Kaback, M.1
Lim-Steele, J.2
Dabholkar, D.3
Brown, D.4
Levy, N.5
Zeiger, K.6
-
3
-
-
0035514049
-
A genetic profile of contemporary Jewish populations
-
Ostrer H. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001;2:891-898.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 891-898
-
-
Ostrer, H.1
-
4
-
-
16244394494
-
Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent
-
ACOG Committee on Genetics. ACOG committee opinion, Number 298, August 2004
-
ACOG Committee on Genetics. ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2004;104:425-428.
-
(2004)
Obstet Gynecol
, vol.104
, pp. 425-428
-
-
-
5
-
-
0035746363
-
Subcommittee on cystic fibrosis screening, accreditation of genetic services committee, ACMG. American college of medical genetics laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-154.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
Richards, C.S.4
Watson, M.S.5
Desnick, R.J.6
-
6
-
-
84902032340
-
-
Mar 11 [Updated 11 August 2011] Pagon RA, Adam MP, Bird TD, et al. (eds). GeneReviews [Internet]. University of Washington: Seattle, WA, . Accessed 12 November 2013
-
Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. 1999 Mar 11 [Updated 11 August 2011]. In: Pagon RA, Adam MP, Bird TD, et al. (eds). GeneReviews [Internet]. University of Washington: Seattle, WA, 1993-2013. http://www. ncbi.nlm.nih.gov/books/NBK1218/. Accessed 12 November 2013.
-
(1999)
Hexosaminidase A Deficiency.
, pp. 1993-2013
-
-
Kaback, M.M.1
Desnick, R.J.2
-
7
-
-
84902029097
-
-
Sept 16 [Updated 11 August 2011]. In Pagon RA, Adam MP, Bird TD, et al. (eds). GeneReviews [Internet]. University of Washington: Seattle, WA, 1993-2013. Accessed 12 November 2013
-
Matalon R, Michals-Matalon K. Canavan Disease. 1999 Sept 16 [Updated 11 August 2011]. In: Pagon RA, Adam MP, Bird TD, et al. (eds). GeneReviews [Internet]. University of Washington: Seattle, WA, 1993-2013. http://www. ncbi.nlm.nih.gov/books/NBK1234/. Accessed 12 November 2013.
-
(1999)
Canavan Disease.
-
-
Matalon, R.1
Michals-Matalon, K.2
-
8
-
-
85205859666
-
-
January 21 [Updated 1 June 2010]. In Pagon RA, Adam MP, Bird TD, et al. (eds). GeneReviews [Internet]. University of Washington: Seattle, WA, 1993-2013. Accessed 13 November 2013
-
Shohat M, Halpern GJ. Familial Dysautonomia. 2003 January 21 [Updated 1 June 2010]. In: Pagon RA, Adam MP, Bird TD, et al. (eds). GeneReviews [Internet]. University of Washington: Seattle, WA, 1993-2013. http://www. ncbi.nlm.nih.gov/books/NBK1180/. Accessed 13 November 2013.
-
(2003)
Familial Dysautonomia
-
-
Shohat, M.1
Halpern, G.J.2
-
9
-
-
85027956019
-
Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey
-
Palomaki GE, Richards CS. Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey. Genet Med 2012;14:69-75.
-
(2012)
Genet Med
, vol.14
, pp. 69-75
-
-
Palomaki, G.E.1
Richards, C.S.2
-
10
-
-
84857862311
-
CAP/ACMG biochemical and molecular genetics resource committee. Molecular genetic testing for fragile X syndrome: Laboratory performance on the College of American Pathologists proficiency surveys (2001-2009)
-
Weck KE, Zehnbauer B, Datto M, Schrijver I; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). Genet Med 2012;14:306-312.
-
(2012)
Genet Med
, vol.14
, pp. 306-312
-
-
Weck, K.E.1
Zehnbauer, B.2
Datto, M.3
Schrijver, I.4
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