-
1
-
-
77950516333
-
-
Gaucher PCE, On primary epithelioma of the spleen: idiopathic hypertrophy of the spleen without leukemia, Thesis, Doctor of Medicine Paris, Octave Doin, 1882.
-
Gaucher PCE, On primary epithelioma of the spleen: idiopathic hypertrophy of the spleen without leukemia, Thesis, Doctor of Medicine Paris, Octave Doin, 1882.
-
-
-
-
2
-
-
0027394416
-
Gaucher disease: gene frequencies in the Ashkenazi Jewish population
-
Beutler E., Nguyen N.J., Henneberger M.W., Smolec J.M., McPherson R.A., West C., and Gelbart T. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet. 52 1 (1993) 85-88
-
(1993)
Am. J. Hum. Genet.
, vol.52
, Issue.1
, pp. 85-88
-
-
Beutler, E.1
Nguyen, N.J.2
Henneberger, M.W.3
Smolec, J.M.4
McPherson, R.A.5
West, C.6
Gelbart, T.7
-
3
-
-
42949118684
-
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
Hruska K.S., LaMarca M.E., Scott C.R., and Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29 5 (2008) 567-583
-
(2008)
Hum. Mutat.
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
4
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
-
Beutler E., Gelbart T., Kuhl W., Sorge J., and West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc. Natl. Acad. Sci. USA 88 23 (1991) 10544-10547
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, Issue.23
, pp. 10544-10547
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Sorge, J.4
West, C.5
-
5
-
-
7344232563
-
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population
-
Horowitz M., Pasmanik-Chor M., Borochowitz Z., Falik-Zaccai T., Heldmann K., Carmi R., Parvari R., Beit-Or H., Goldman B., Peleg L., Levy-Lahad E., Renbaum P., Legum S., Shomrat R., Yeger H., Benbenisti D., Navon R., Dror V., Shohat M., Magal N., Navot N., and Eyal N. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum. Mutat. 12 4 (1998) 240-244
-
(1998)
Hum. Mutat.
, vol.12
, Issue.4
, pp. 240-244
-
-
Horowitz, M.1
Pasmanik-Chor, M.2
Borochowitz, Z.3
Falik-Zaccai, T.4
Heldmann, K.5
Carmi, R.6
Parvari, R.7
Beit-Or, H.8
Goldman, B.9
Peleg, L.10
Levy-Lahad, E.11
Renbaum, P.12
Legum, S.13
Shomrat, R.14
Yeger, H.15
Benbenisti, D.16
Navon, R.17
Dror, V.18
Shohat, M.19
Magal, N.20
Navot, N.21
Eyal, N.22
more..
-
6
-
-
0033035796
-
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population
-
Horowitz M., Pasmanik-Chor M., Borochowitz Z., Falik-Zaccai T., Heldmann K., Carmi R., Parvari R., et al. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum. Mutat. 13 3 (1999) 255
-
(1999)
Hum. Mutat.
, vol.13
, Issue.3
, pp. 255
-
-
Horowitz, M.1
Pasmanik-Chor, M.2
Borochowitz, Z.3
Falik-Zaccai, T.4
Heldmann, K.5
Carmi, R.6
Parvari, R.7
-
7
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 361 17 (2009) 1651-1661
-
(2009)
N. Engl. J. Med.
, vol.361
, Issue.17
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
Bar-Shira, A.7
-
8
-
-
0027142758
-
Non-radioisotopic typing of human leukocyte antigen class II genes on microplates
-
Giorda R., Lampasona V., Kocova M., and Trucco M. Non-radioisotopic typing of human leukocyte antigen class II genes on microplates. Biotechniques 15 5 (1993) 918-925
-
(1993)
Biotechniques
, vol.15
, Issue.5
, pp. 918-925
-
-
Giorda, R.1
Lampasona, V.2
Kocova, M.3
Trucco, M.4
-
9
-
-
46049112735
-
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
-
Gan-Or Z., Giladi N., Rozovski U., Shifrin C., Rosner S., Gurevich T., Bar-Shira A., and Orr-Urtreger A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 70 24 (2008) 2272-2273
-
(2008)
Neurology
, vol.70
, Issue.24
, pp. 2272-2273
-
-
Gan-Or, Z.1
Giladi, N.2
Rozovski, U.3
Shifrin, C.4
Rosner, S.5
Gurevich, T.6
Bar-Shira, A.7
Orr-Urtreger, A.8
-
10
-
-
0033951675
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
-
Stone D., Tayebi N., Orvisky E., Stubblefield B., Madike V., and Sidraksy E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum. Mutat. 15 (2000) 181-188
-
(2000)
Hum. Mutat.
, vol.15
, pp. 181-188
-
-
Stone, D.1
Tayebi, N.2
Orvisky, E.3
Stubblefield, B.4
Madike, V.5
Sidraksy, E.6
-
11
-
-
0028348926
-
RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease
-
Zimran A., and Horowitz M. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Am. J. Med. Genet. 50 1 (1994) 74-78
-
(1994)
Am. J. Med. Genet.
, vol.50
, Issue.1
, pp. 74-78
-
-
Zimran, A.1
Horowitz, M.2
-
12
-
-
0037371235
-
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
-
Tayebi N., Stubblefield B.K., Park J.K., Orvisky E., Walker J.M., LaMarca M.E., and Sidransky E. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am. J. Hum. Genet. 72 3 (2003) 519-534
-
(2003)
Am. J. Hum. Genet.
, vol.72
, Issue.3
, pp. 519-534
-
-
Tayebi, N.1
Stubblefield, B.K.2
Park, J.K.3
Orvisky, E.4
Walker, J.M.5
LaMarca, M.E.6
Sidransky, E.7
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