-
1
-
-
0029968117
-
Acromicric dysplasia and geleophysic dysplasia: Similarities and differences
-
Hennekam RCM, van Bever Y, Oorthuys JWE. 1996. Acromicric dysplasia and geleophysic dysplasia: similarities and differences. Eur J Pediatr 155:311-314.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 311-314
-
-
Hennekam, R.C.M.1
Van Bever, Y.2
Oorthuys, J.W.E.3
-
3
-
-
0023513193
-
Geleophysic dysplasia: Acromicric dysplasia with evidence of glycoprotein storage
-
Lipson AH, Kan AE, Kozlowski K. 1987. Geleophysic dysplasia: acromicric dysplasia with evidence of glycoprotein storage. Am J Med Genet [Suppl] 3:181-189.
-
(1987)
Am J Med Genet [Suppl]
, vol.3
, pp. 181-189
-
-
Lipson, A.H.1
Kan, A.E.2
Kozlowski, K.3
-
4
-
-
0029993480
-
Clinical and ultrastructural findings in three patients with geleophysic dysplania
-
Pontz BF, Sto H, Henschke F, Freisinger P, Karbowski A, Spranger J. 1996. Clinical and ultrastructural findings in three patients with geleophysic dysplania. Am J Med Genet 63:50-54.
-
(1996)
Am J Med Genet
, vol.63
, pp. 50-54
-
-
Pontz, B.F.1
Sto, H.2
Henschke, F.3
Freisinger, P.4
Karbowski, A.5
Spranger, J.6
-
5
-
-
0030714164
-
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia
-
Rennie AC, Stewart G, Whiteford M, Johnston T, Tolmie JL. 1997. Expect the worse or hope for the best? prenatal diagnosis of geleophysic dysplasia. Prenat Diagn 17:1067-1070.
-
(1997)
Prenat Diagn
, vol.17
, pp. 1067-1070
-
-
Rennie, A.C.1
Stewart, G.2
Whiteford, M.3
Johnston, T.4
Tolmie, J.L.5
-
6
-
-
0029080150
-
Geleophysic dysplasia: A report of three affected boys: Prenatal ultrasound does not detect recurrence
-
Rosser EM, Wilkinson AR, Hurst JA, McGaughran JM, Donnai D. 1995. Geleophysic dysplasia: a report of three affected boys: prenatal ultrasound does not detect recurrence. Am J Med Genet 58:217-221.
-
(1995)
Am J Med Genet
, vol.58
, pp. 217-221
-
-
Rosser, E.M.1
Wilkinson, A.R.2
Hurst, J.A.3
McGaughran, J.M.4
Donnai, D.5
-
7
-
-
0030963647
-
Patients with geleophysic dysplasia are not always geleophysic
-
Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ. 1997. Patients with geleophysic dysplasia are not always geleophysic. Am J Med Genet 72:85-90.
-
(1997)
Am J Med Genet
, vol.72
, pp. 85-90
-
-
Santolaya, J.M.1
Groninga, L.C.2
Delgado, A.3
Monasterio, J.L.4
Camarero, C.5
Bilbao, F.J.6
-
8
-
-
0025336522
-
Geleophysic dysplasia: A storage disorder affecting the skin, bone, liver, heart and trachea
-
Shohat M, Gruber HE, Pagon RA, Witcoff LJ, Lachman R, Ferry D, Flaum E, Rimom DL. 1990. Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart and trachea. J Pediatr 117:227-232.
-
(1990)
J Pediatr
, vol.117
, pp. 227-232
-
-
Shohat, M.1
Gruber, H.E.2
Pagon, R.A.3
Witcoff, L.J.4
Lachman, R.5
Ferry, D.6
Flaum, E.7
Rimom, D.L.8
-
9
-
-
0021686745
-
Acrofacial dysplasia resembling geleophysic dysplasia
-
Spranger J, Gilbert EF, Flatz S, Burdelski M, Kallfelz HC. 1984a. Acrofacial dysplasia resembling geleophysic dysplasia. Am J Med Genet 19: 501-506.
-
(1984)
Am J Med Genet
, vol.19
, pp. 501-506
-
-
Spranger, J.1
Gilbert, E.F.2
Flatz, S.3
Burdelski, M.4
Kallfelz, H.C.5
-
10
-
-
0021684354
-
Geleophysic dysplasia
-
Spranger J, Gilbert EF, Ray S, Hoganson GMI, Opitz JM. 1984b. Geleophysic dysplasia. Am J Med Genet 19:487-499.
-
(1984)
Am J Med Genet
, vol.19
, pp. 487-499
-
-
Spranger, J.1
Gilbert, E.F.2
Ray, S.3
Hoganson, G.M.I.4
Opitz, J.M.5
-
11
-
-
0015218203
-
Geleophysic dwarfism: A 'focal' mucopolysaccharidosis?
-
Spranger J, Gilbert EF, Tuffli GA, Rossiter FP, Opitz JM. 1971. Geleophysic dwarfism: a 'focal' mucopolysaccharidosis? Lancet 2:97-98.
-
(1971)
Lancet
, vol.2
, pp. 97-98
-
-
Spranger, J.1
Gilbert, E.F.2
Tuffli, G.A.3
Rossiter, F.P.4
Opitz, J.M.5
-
12
-
-
0345222808
-
Mitral stenosis in an atypical case of gargoylism
-
Vanace PW, Friedman S, Wagner BM. 1960. Mitral stenosis in an atypical case of gargoylism. Circulation 21:80-89.
-
(1960)
Circulation
, vol.21
, pp. 80-89
-
-
Vanace, P.W.1
Friedman, S.2
Wagner, B.M.3
-
13
-
-
0025141719
-
Geleophysic dysplasia
-
Wraith JE, Bankier A, Chow CW, Danks DM, Sardharwalla IB. 1990. Geleophysic dysplasia. Am J Med Genet 35:153-156.
-
(1990)
Am J Med Genet
, vol.35
, pp. 153-156
-
-
Wraith, J.E.1
Bankier, A.2
Chow, C.W.3
Danks, D.M.4
Sardharwalla, I.B.5
|