-
3
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-6.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
-
4
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-51.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
-
5
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbonrne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-8.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbonrne, P.2
Davies, J.3
-
6
-
-
0027366978
-
Myotonic dystrophy: Size- And sex-dependent dynamics of CTG meiotic instability and somatic mosaicism
-
Lavedan C, Hofmann-Radvany H, Shelbourne P, et al. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability and somatic mosaicism. Am J Hum Genet 1993;52:875-83.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
Hofmann-Radvany, H.2
Shelbourne, P.3
-
7
-
-
0025794158
-
Genetic risks for children of women with myotonic dystrophy
-
Koch MC, Grimm T, Harley HG, et al. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 1991;48:1084-91.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1084-1091
-
-
Koch, M.C.1
Grimm, T.2
Harley, H.G.3
-
8
-
-
0027303010
-
Neurofibromatosis type 1 (NF1): Knowledge, experience, and reproductive decisions of affected patients and families
-
Benjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L. Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet 1993;30:567-74.
-
(1993)
J Med Genet
, vol.30
, pp. 567-574
-
-
Benjamin, C.M.1
Colley, A.2
Donnai, D.3
Kingston, H.4
Harris, R.5
Kerzin-Storrar, L.6
-
9
-
-
0025046556
-
Adult polycystic kidney disease: Knowledge, experience and attitudes to prenatal diagnosis
-
Hodgkinson K, Kerzin-Storrar L, Watters A, et al. Adult polycystic kidney disease: knowledge, experience and attitudes to prenatal diagnosis. J Med Genet 1990;27:552-8.
-
(1990)
J Med Genet
, vol.27
, pp. 552-558
-
-
Hodgkinson, K.1
Kerzin-Storrar, L.2
Watters, A.3
-
10
-
-
0021360094
-
Course, prognosis and complications of childhood onset myotonic dystrophy
-
O'Brien T, Harper PS. Course, prognosis and complications of childhood onset myotonic dystrophy. Dev Med Child Neurol 1984;26:62-7.
-
(1984)
Dev Med Child Neurol
, vol.26
, pp. 62-67
-
-
O'Brien, T.1
Harper, P.S.2
-
11
-
-
0027498921
-
The natural history of congenital myotonic dystrophy: Mortality and long term clinical aspects
-
Reardon W, Newcombe R, Fenton I, et al. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 1993;68:177-81.
-
(1993)
Arch Dis Child
, vol.68
, pp. 177-181
-
-
Reardon, W.1
Newcombe, R.2
Fenton, I.3
-
13
-
-
0025332017
-
A child with CF. I. Parental knowledge about the genetic transmission of CF and about DNA-diagnostic procedures
-
Denayer L, Evers-Kiebooms SG, Van Den Berghe H. A child with CF. I. Parental knowledge about the genetic transmission of CF and about DNA-diagnostic procedures. Clin Genet 1990;37:198-206.
-
(1990)
Clin Genet
, vol.37
, pp. 198-206
-
-
Denayer, L.1
Evers-Kiebooms, S.G.2
Van Den Berghe, H.3
-
15
-
-
0019831218
-
Genetic counselling: A comparison of counsellees' genetic knowledge before and after (part III)
-
Seidenfield MJ, Antley RM. Genetic counselling: a comparison of counsellees' genetic knowledge before and after (part III). Am J Med Genet 1981;10:107-12.
-
(1981)
Am J Med Genet
, vol.10
, pp. 107-112
-
-
Seidenfield, M.J.1
Antley, R.M.2
-
16
-
-
16944363057
-
Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders
-
DudokdeWit AC, Tibben A, Duivenvoorden HJ, et al. Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. J Med Genet 1997;34:382-90.
-
(1997)
J Med Genet
, vol.34
, pp. 382-390
-
-
DudokdeWit, A.C.1
Tibben, A.2
Duivenvoorden, H.J.3
-
17
-
-
0025275664
-
Factors influencing the reproductive decision after genetic counselling
-
Frets PG, Duivenvoorden HJ, Verhage F, et al. Factors influencing the reproductive decision after genetic counselling. Am J Med Genet 1990;35:496-502.
-
(1990)
Am J Med Genet
, vol.35
, pp. 496-502
-
-
Frets, P.G.1
Duivenvoorden, H.J.2
Verhage, F.3
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