-
1
-
-
0016055082
-
Congenital cornea clouding with abnormal systemic storage bodies: A new variant of Mucolipidosis
-
Berman ER, Livni N, Shapira E. Merin S, Levij IS: Congenital cornea clouding with abnormal systemic storage bodies: A new variant of Mucolipidosis. J Pediatr 1974; 84: 519-526.
-
(1974)
J Pediatr
, vol.84
, pp. 519-526
-
-
Berman, E.R.1
Livni, N.2
Shapira, E.3
Merin, S.4
Levij, I.S.5
-
2
-
-
0023230993
-
Mucolipidosis type IV: Clinical and natural history
-
Amir N, Zlotogora J, Bach G: Mucolipidosis type IV: Clinical and natural history. Pediatrics 1987; 79: 953-959
-
(1987)
Pediatrics
, vol.79
, pp. 953-959
-
-
Amir, N.1
Zlotogora, J.2
Bach, G.3
-
3
-
-
0345324677
-
Mucolipidosis type IV
-
Desnick RJ (ed.). Oxford University Press: New York, (in press)
-
Bach G, Zeigler M, Bargal R: Mucolipidosis type IV. In: Desnick RJ (ed.). Advances in Jewish Genetic Diseases. Oxford University Press: New York, 1999, (in press).
-
(1999)
Advances in Jewish Genetic Diseases
-
-
Bach, G.1
Zeigler, M.2
Bargal, R.3
-
4
-
-
0032568565
-
Abnormal transport along the lysosomal pathway in Mucolipidosis type IV disease
-
Chen C-S, Bach G, Pagano RE: Abnormal transport along the lysosomal pathway in Mucolipidosis type IV disease. Proc Natl Acad Sci USA 1998; 95: 6373-6378.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6373-6378
-
-
Chen, C.-S.1
Bach, G.2
Pagano, R.E.3
-
5
-
-
0029248868
-
Jewish diseases and origin
-
Motulsky AG: Jewish diseases and origin. Nat Genet 1995: 9: 99-101.
-
(1995)
Nat Genet
, vol.9
, pp. 99-101
-
-
Motulsky, A.G.1
-
6
-
-
0005713877
-
Major demographic trends of world Jewry: The last hundred years
-
Bonne-Tamir B, Adam B (eds). Oxford University Press: New York
-
DellaPergola S: Major demographic trends of world Jewry: The last hundred years. In: Bonne-Tamir B, Adam B (eds). Genetic Diversity Among the Jews. Oxford University Press: New York, 1992, pp 3-30.
-
(1992)
Genetic Diversity among the Jews
, pp. 3-30
-
-
DellaPergola, S.1
-
7
-
-
0021045849
-
The Tay-Sachs disease gene in North American Jewish population: Geographic variations and origin
-
Petersen GM, Rotter JI, Cantor RM et al: The Tay-Sachs disease gene in North American Jewish population: Geographic variations and origin. Am J Hum Genet 1983; 35-1258-1269.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 1258-1269
-
-
Petersen, G.M.1
Rotter, J.I.2
Cantor, R.M.3
-
8
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent decent from small founder population
-
Rich N, de Leon D, Ozelius L et al: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent decent from small founder population. Nat Genet 1995; 9: 152-159.
-
(1995)
Nat Genet
, vol.9
, pp. 152-159
-
-
Rich, N.1
De Leon, D.2
Ozelius, L.3
-
9
-
-
0000216808
-
Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw Hill: New York
-
Beutler E, Grabowsky GA: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited disease. McGraw Hill: New York, 1995, pp 2641-2670.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2641-2670
-
-
Beutler, E.1
Grabowsky, G.A.2
|