-
1
-
-
84995191751
-
'Puppet' children. A report on three cases
-
Angelman H. 'Puppet' children. A report on three cases. Dev. Med. Child Neurol. 7:1965;681-688.
-
(1965)
Dev. Med. Child Neurol.
, vol.7
, pp. 681-688
-
-
Angelman, H.1
-
3
-
-
0023925498
-
The EEG in early diagnosis of the Angelman (happy puppet) syndrome
-
Boyd S.G., Harden A., Patton M.A. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur. J. Pediatr. 147:1988;508-513.
-
(1988)
Eur. J. Pediatr.
, vol.147
, pp. 508-513
-
-
Boyd, S.G.1
Harden, A.2
Patton, M.A.3
-
4
-
-
0028915186
-
Electroclinical diagnosis of Angelman syndrome: A study of 7 cases
-
Casara G.L., Vecchi M., Boniver C., Drigo P., Baccichetti C., Artifoni L., Franzoni E., Marchiani V. Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. Brain Dev. 17:1995;64-68.
-
(1995)
Brain Dev.
, vol.17
, pp. 64-68
-
-
Casara, G.L.1
Vecchi, M.2
Boniver, C.3
Drigo, P.4
Baccichetti, C.5
Artifoni, L.6
Franzoni, E.7
Marchiani, V.8
-
5
-
-
0027438770
-
Molecular mechanisms in Angelman Syndrome: A survey of 93 patients
-
Chan C.T.J., Clayton-Smith J., Cheng X.-J., Buxton J., Webb T., Pembrey M.E., Malcolm S. Molecular mechanisms in Angelman Syndrome: a survey of 93 patients. J. Med. Genet. 30:1993;895-902.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 895-902
-
-
Chan, C.T.J.1
Clayton-Smith, J.2
Cheng, X.-J.3
Buxton, J.4
Webb, T.5
Pembrey, M.E.6
Malcolm, S.7
-
7
-
-
58149412516
-
Weighted kappa. Nominal scale agreement with provision for scaled disagreement or partial credit
-
Cohen J. Weighted kappa. Nominal scale agreement with provision for scaled disagreement or partial credit. Psychol. Bull. 70:1968;213-220.
-
(1968)
Psychol. Bull.
, vol.70
, pp. 213-220
-
-
Cohen, J.1
-
9
-
-
0029111944
-
Rett syndrome: Clinical peculiarities and biological mysteries
-
Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 84:1995;971-976.
-
(1995)
Acta Paediatr.
, vol.84
, pp. 971-976
-
-
Hagberg, B.1
-
10
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
-
Hagberg B., Aicardi J., Dias K., Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14:1983;471-479.
-
(1983)
Ann. Neurol.
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
11
-
-
0022005592
-
Rett syndrome: Criteria for inclusion and exclusion
-
Hagberg B., Goutières F., Hanefeld F., Rett A., Wilson J. Rett syndrome: criteria for inclusion and exclusion. Brain Dev. 7:1985;372-373.
-
(1985)
Brain Dev.
, vol.7
, pp. 372-373
-
-
Hagberg, B.1
Goutières, F.2
Hanefeld, F.3
Rett, A.4
Wilson, J.5
-
12
-
-
0022460194
-
Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
-
Hagberg B., Witt-Engerström I. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am. J. Med. Genet. 24(Suppl. 1):1986;47-59.
-
(1986)
Am. J. Med. Genet.
, vol.24
, Issue.SUPPL. 1
, pp. 47-59
-
-
Hagberg, B.1
Witt-Engerström, I.2
-
14
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T., Lalande M., Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet. 15:1997;70-73.
-
(1997)
Nature Genet.
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
15
-
-
0027476507
-
Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview
-
Knoll J.H.M., Wagstaff J., Lalande M. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview. Am. J. Med. Genet. 46:1993;2-6.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 2-6
-
-
Knoll, J.H.M.1
Wagstaff, J.2
Lalande, M.3
-
16
-
-
0031050904
-
Evolution of epilepsy and EEG findings in Angelman Syndrome
-
Laan L.A.E.M., Renier W.O., Arts W.F.M., Buntinx I.M., vd Burgt I.J.A.M., Stroink H., Beuten J., Zwinderman K.H., v Dijk J.G., Brouwer O.F. Evolution of epilepsy and EEG findings in Angelman Syndrome. Epilepsia. 38:1997;195-199.
-
(1997)
Epilepsia
, vol.38
, pp. 195-199
-
-
Laan, L.A.E.M.1
Renier, W.O.2
Arts, W.F.M.3
Buntinx, I.M.4
Vd Burgt, I.J.A.M.5
Stroink, H.6
Beuten, J.7
Zwinderman, K.H.8
V. Dijk, J.G.9
Brouwer, O.F.10
-
17
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T., Sutcliffe J.S., Fang P., Galjaard R.J., Jiang Y., Benton C.S., Rommens J.M., Beaudet A.L. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet. 15:1997;74-77.
-
(1997)
Nature Genet.
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
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