-
1
-
-
0023898072
-
Natural history of alpha-1-protease inhibitor deficiency
-
Hutchinson DCS: Natural history of alpha-1-protease inhibitor deficiency. Am J Med 1988;84(suppl 6A):3-12.
-
(1988)
Am J Med
, vol.84
, Issue.SUPPL. 6A
, pp. 3-12
-
-
Hutchinson, D.C.S.1
-
6
-
-
0023943870
-
Splenic artery aneurysm rupture following orthotopic liver transplantation
-
Brems JJ, Hiatt JR, Klein AS, Colonna JO, Busuttil RW: Splenic artery aneurysm rupture following orthotopic liver transplantation. Transplantation 1988;45:1136-1137.
-
(1988)
Transplantation
, vol.45
, pp. 1136-1137
-
-
Brems, J.J.1
Hiatt, J.R.2
Klein, A.S.3
Colonna, J.O.4
Busuttil, R.W.5
-
8
-
-
0021181518
-
Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta
-
Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH: Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 1984;259:11129-11138.
-
(1984)
J Biol Chem
, vol.259
, pp. 11129-11138
-
-
Steinmann, B.1
Rao, V.H.2
Vogel, A.3
Bruckner, P.4
Gitzelmann, R.5
Byers, P.H.6
-
9
-
-
0029665663
-
Gly802Asp substitution in the proα2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
-
Lund AM, Schwartz M, Raghunath M, Steinmann B, Skovby F: Gly802Asp substitution in the proα2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Eur J Hum Genet 1996;4:39-45.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 39-45
-
-
Lund, A.M.1
Schwartz, M.2
Raghunath, M.3
Steinmann, B.4
Skovby, F.5
-
10
-
-
0014949207
-
Cleavage of the structural proteins during the assembly of the head of bacteriophage T4
-
Lämmli UK: Cleavage of the structural proteins during the assembly of the head of bacteriophage T4. Nature 1970;227:680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Lämmli, U.K.1
-
11
-
-
0002367822
-
The Ehlers-Danlos syndrome
-
Royce PM, Steinmann B (eds): New York, Wiley-Liss
-
Steinmann B, Royce PM, Superti-Furga A: The Ehlers-Danlos syndrome; in Royce PM, Steinmann B (eds): Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York, Wiley-Liss, 1993, pp 351-407.
-
(1993)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects
, pp. 351-407
-
-
Steinmann, B.1
Royce, P.M.2
Superti-Furga, A.3
-
12
-
-
0017099344
-
1-antitrypsin deficiency detected by screening of 200,000 infants
-
1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl JMed 1976;294:1316-1321.
-
(1976)
N Engl JMed
, vol.294
, pp. 1316-1321
-
-
Sveger, T.1
-
13
-
-
0002203166
-
1-antitrypsin deficiency
-
1-antitrypsin deficiency. Acta Med Scand 1965;177:5-85.
-
(1965)
Acta Med Scand
, vol.177
, pp. 5-85
-
-
Eriksson, S.1
-
14
-
-
0019349192
-
The Pi polymorphism: Genetic, biochemical, and clinical aspects of human alpha-1-antitrypsin
-
Harris H, Hirschhorn K (eds): New York, Plenum Press
-
Fagerhol MK, Cox DW: The Pi polymorphism: Genetic, biochemical, and clinical aspects of human alpha-1-antitrypsin; in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, Plenum Press, 1981, pp 1-62.
-
(1981)
Advances in Human Genetics
, pp. 1-62
-
-
Fagerhol, M.K.1
Cox, D.W.2
-
18
-
-
0029833692
-
Severe spontaneous carotid artery dissection and multiple aneurysmal dilatations
-
Plaschke M, Auer D, Trapp T, Trenkwalder P, Trenkwalder C: Severe spontaneous carotid artery dissection and multiple aneurysmal dilatations. Angiology 1996;47:919-923.
-
(1996)
Angiology
, vol.47
, pp. 919-923
-
-
Plaschke, M.1
Auer, D.2
Trapp, T.3
Trenkwalder, P.4
Trenkwalder, C.5
|