-
1
-
-
0015739133
-
The Schwanz syndrome in Southern Africa
-
Beighton P. The Schwanz syndrome in Southern Africa. Clin Genet 1973;4:540-55.
-
(1973)
Clin Genet
, vol.4
, pp. 540-555
-
-
Beighton, P.1
-
2
-
-
0017873273
-
Schwartz-Jampel syndrome
-
Cao A, Cianchetti C, Calisti L, de Virgilis S, Ferelli A, Tangheron W. Schwartz-Jampel syndrome. J Neural Sci 1978;35:175-87.
-
(1978)
J Neural Sci
, vol.35
, pp. 175-187
-
-
Cao, A.1
Cianchetti, C.2
Calisti, L.3
De Virgilis, S.4
Ferelli, A.5
Tangheron, W.6
-
3
-
-
0017869420
-
A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings
-
Fariello R, Meloff K, Murphy EG, Reilly BJ, Armstrong D. A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings. Ann Neurol 1978;3:93-6.
-
(1978)
Ann Neurol
, vol.3
, pp. 93-96
-
-
Fariello, R.1
Meloff, K.2
Murphy, E.G.3
Reilly, B.J.4
Armstrong, D.5
-
4
-
-
0023270834
-
Neonatal manifestations of Schwartz-Jampel syndrome
-
Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet 1987;27:799-805.
-
(1987)
Am J Med Genet
, vol.27
, pp. 799-805
-
-
Farrell, S.A.1
Davidson, R.G.2
Thorp, P.3
-
5
-
-
0019522601
-
Congenital myopathy with oculo-facial and skeletal abnormalities
-
Ferguson DS, Young ID, Teoh R. Congenital myopathy with oculo-facial and skeletal abnormalities. Dev Med Child Neurol 1981;23:237-12.
-
(1981)
Dev Med Child Neurol
, vol.23
, pp. 237-312
-
-
Ferguson, D.S.1
Young, I.D.2
Teoh, R.3
-
7
-
-
0024539510
-
Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation
-
Hunziker URSA, Savoldelli G, Boltshauser E, Geidion A, Schinzel A. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. Prenat Diagn 1989;9:127-31.
-
(1989)
Prenat Diagn
, vol.9
, pp. 127-131
-
-
Hunziker, U.R.S.A.1
Savoldelli, G.2
Boltshauser, E.3
Geidion, A.4
Schinzel, A.5
-
8
-
-
0014626845
-
Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle
-
Huttenlocher PR, Landwirth J, Hanson V, Gallagher BB, Bensch K. Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle. Pediatrics 1969;44:945-58.
-
(1969)
Pediatrics
, vol.44
, pp. 945-958
-
-
Huttenlocher, P.R.1
Landwirth, J.2
Hanson, V.3
Gallagher, B.B.4
Bensch, K.5
-
9
-
-
0020568576
-
Sindrome di Schwartz-Jampel. Description of a case with neonatal manifestation and review of the literature
-
Rosignoli RF, Zanini F. Sindrome di Schwartz-Jampel. Description of a case with neonatal manifestation and review of the literature. Minerva Pediatr 1983;35:509-13.
-
(1983)
Minerva Pediatr
, vol.35
, pp. 509-513
-
-
Rosignoli, R.F.1
Zanini, F.2
-
10
-
-
0018174012
-
Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome
-
Seay AR, Ziter FA. Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome. J Pediatr 1978;93:83-1.
-
(1978)
J Pediatr
, vol.93
, pp. 83-91
-
-
Seay, A.R.1
Ziter, F.A.2
-
11
-
-
0027481259
-
The Schwartz-Jampel syndrome
-
Al-Gazali LI. The Schwartz-Jampel syndrome. Clin Dysmorphol 1993;2:47-54.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 47-54
-
-
Al-Gazali, L.I.1
-
12
-
-
0025611189
-
Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children
-
Moodley M, Moosa A. Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children. Neuropediatrics 1990;21:206-10.
-
(1990)
Neuropediatrics
, vol.21
, pp. 206-210
-
-
Moodley, M.1
Moosa, A.2
-
13
-
-
0027166260
-
Marden-Walker syndrome: A case report and a critical review of the literature
-
Williams MS, Josephron KD, Wargowski DS. Marden-Walker syndrome: a case report and a critical review of the literature. Clin Dysmorphol 1983;2:211-9.
-
(1983)
Clin Dysmorphol
, vol.2
, pp. 211-219
-
-
Williams, M.S.1
Josephron, K.D.2
Wargowski, D.S.3
-
14
-
-
0022469445
-
New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome
-
Sanchez JM, Keminker CP. New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet 1986;25:507-11.
-
(1986)
Am J Med Genet
, vol.25
, pp. 507-511
-
-
Sanchez, J.M.1
Keminker, C.P.2
-
15
-
-
0016702390
-
Diagnostic criteria for the whistling face syndrome
-
Antley RM, Uga N, Burzynski NJ. Diagnostic criteria for the whistling face syndrome. Birth Defects 1975;11:161-8.
-
(1975)
Birth Defects
, vol.11
, pp. 161-168
-
-
Antley, R.M.1
Uga, N.2
Burzynski, N.J.3
-
16
-
-
0029127267
-
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome IP34-P36.1 by homozygosity mapping
-
Nicole S, Ben Hamida C, Beighton P, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome IP34-P36.1 by homozygosity mapping. Hum Mol Genet 1995;4:1633-6.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1633-1636
-
-
Nicole, S.1
Ben Hamida, C.2
Beighton, P.3
-
17
-
-
0024366485
-
High incidence of Bardet-Biedl syndrome among the Bedouin
-
Farag TI, Teebi AS. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet 1989;36:463-5.
-
(1989)
Clin Genet
, vol.36
, pp. 463-465
-
-
Farag, T.I.1
Teebi, A.S.2
-
18
-
-
0025205230
-
Multiple pterygium syndrome: A relatively common disorder among Arabs
-
Teebi A, Daoud A. Multiple pterygium syndrome: a relatively common disorder among Arabs. J Med Genet 1990;27:791.
-
(1990)
J Med Genet
, vol.27
, pp. 791
-
-
Teebi, A.1
Daoud, A.2
|