-
1
-
-
2842515507
-
Craniofacial and skeletal abnormalities associated with deafness, eye findings, and cryptorchidism: A new syndrome?
-
Abstract of the D Smith Workshop
-
Bader PI, Saksena S, Bixler D (1985): Craniofacial and skeletal abnormalities associated with deafness, eye findings, and cryptorchidism: A new syndrome? Proceedings of the Greenwood Center, Abstract of the D Smith Workshop 4:134-135.
-
(1985)
Proceedings of the Greenwood Center
, vol.4
, pp. 134-135
-
-
Bader, P.I.1
Saksena, S.2
Bixler, D.3
-
2
-
-
0026000153
-
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
-
Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P (1991): Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. Am J Med Genet 41:184-187.
-
(1991)
Am J Med Genet
, vol.41
, pp. 184-187
-
-
Ballabio, A.1
Zollo, M.2
Carrozzo, R.3
Caiulo, A.4
Zuffardi, O.5
Cascioli, C.F.6
Viggiano, D.7
Strisciuglio, P.8
-
3
-
-
0026343037
-
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy
-
Begeer JH, Scholte FA, van Essen AJ (1991): Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 28:884-885.
-
(1991)
J Med Genet
, vol.28
, pp. 884-885
-
-
Begeer, J.H.1
Scholte, F.A.2
Van Essen, A.J.3
-
4
-
-
0021180649
-
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome
-
Curry CJ, Magenis RE, Brown M, Lanman JTJ, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ (1984): Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010-1015.
-
(1984)
N Engl J Med
, vol.311
, pp. 1010-1015
-
-
Curry, C.J.1
Magenis, R.E.2
Brown, M.3
Lanman, J.T.J.4
Tsai, J.5
O'Lague, P.6
Goodfellow, P.7
Mohandas, T.8
Bergner, E.A.9
Shapiro, L.J.10
-
6
-
-
0026636450
-
A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait
-
Guala A, Germinetti V, Sebastiani F, Silengo MC (1992): A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. Clin Genet 41:293-295.
-
(1992)
Clin Genet
, vol.41
, pp. 293-295
-
-
Guala, A.1
Germinetti, V.2
Sebastiani, F.3
Silengo, M.C.4
-
7
-
-
76549209070
-
Dyschondrosteosis, a hereditary bone dysplasia with characteristic roentgenographic features
-
Langer LO (1965): Dyschondrosteosis, a hereditary bone dysplasia with characteristic roentgenographic features. Am J Roentgenol Radium Ther Nucl Med 95:178-188.
-
(1965)
Am J Roentgenol Radium Ther Nucl Med
, vol.95
, pp. 178-188
-
-
Langer, L.O.1
-
8
-
-
0014135485
-
Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type
-
Langer LO (1967): Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology 89:654-660.
-
(1967)
Radiology
, vol.89
, pp. 654-660
-
-
Langer, L.O.1
-
10
-
-
0019919811
-
Cochleosaccular degeneration of the inner ear and progressive cataracts inherited as an autosomal dominant trait
-
Nadol JBJ, Burgess B (1982): Cochleosaccular degeneration of the inner ear and progressive cataracts inherited as an autosomal dominant trait. Laryngoscope 92:1028-1037.
-
(1982)
Laryngoscope
, vol.92
, pp. 1028-1037
-
-
Nadol, J.B.J.1
Burgess, B.2
-
11
-
-
0025678896
-
Cataract, hearing loss and hypercholesterolemia
-
Nucci P, Mets MB (1990): Cataract, hearing loss and hypercholesterolemia. Acta Ophthalmol 68:739-742.
-
(1990)
Acta Ophthalmol
, vol.68
, pp. 739-742
-
-
Nucci, P.1
Mets, M.B.2
-
13
-
-
0027373142
-
A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation
-
Suthers GK, Earley AE, Huson SM (1993): A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin Dysmorphol 2:342-345.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 342-345
-
-
Suthers, G.K.1
Earley, A.E.2
Huson, S.M.3
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