-
1
-
-
0027953334
-
Vacterl with hydrocephalus: A further case with probable autosomal recessive inheritance
-
Corsello G, Giuffre L (1994). Vacterl with hydrocephalus: a further case with probable autosomal recessive inheritance (Letter). Am J Med Genet 49:137-138.
-
(1994)
Am J Med Genet
, vol.49
, pp. 137-138
-
-
Corsello, G.1
Giuffre, L.2
-
3
-
-
0013671575
-
Die familiäre panmyelopathie
-
Fanconi G (1964). Die familiäre Panmyelopathie. Schweiz Med Wochenschr 94:1309-1318.
-
(1964)
Schweiz Med Wochenschr
, vol.94
, pp. 1309-1318
-
-
Fanconi, G.1
-
4
-
-
0023158893
-
Syndrome of the month: Thrombocytopenia and absent radius (TAR) syndrome
-
Hall JG (1987). Syndrome of the month: thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 24: 79-83.
-
(1987)
J Med Genet
, vol.24
, pp. 79-83
-
-
Hall, J.G.1
-
5
-
-
0017756101
-
The SC phocomelia and the Roberts syndrome: Nosologic aspects
-
Herrmann J, Opitz JM (1977). The SC phocomelia and the Roberts syndrome: Nosologic aspects. Eur J Pediatr 125:117-134.
-
(1977)
Eur J Pediatr
, vol.125
, pp. 117-134
-
-
Herrmann, J.1
Opitz, J.M.2
-
6
-
-
0025884457
-
Syndrome of the month: The Holt-Oram syndrome
-
Hurst JA, Hall CM, Baraitser M (1991). Syndrome of the month: the Holt-Oram syndrome. J Med Genet 28: 406-410.
-
(1991)
J Med Genet
, vol.28
, pp. 406-410
-
-
Hurst, J.A.1
Hall, C.M.2
Baraitser, M.3
-
8
-
-
0024473590
-
RAPADALINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations
-
Kääriäinen H, Ryöppy S, Norio R (1989). RAPADALINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet 33:346-351.
-
(1989)
Am J Med Genet
, vol.33
, pp. 346-351
-
-
Kääriäinen, H.1
Ryöppy, S.2
Norio, R.3
-
10
-
-
0032939991
-
Mutations in the RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
-
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y (1999). Mutations in the RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nature Genetics 22:82-84.
-
(1999)
Nature Genetics
, vol.22
, pp. 82-84
-
-
Kitao, S.1
Shimamoto, A.2
Goto, M.3
Miller, R.W.4
Smithson, W.A.5
Lindor, N.M.6
Furuichi, Y.7
-
12
-
-
0022515780
-
Protracted diarrhoea in infancy:Evidence in support of an autoimmune variant
-
Mirakian R, Richardson A, Milla PJ, Walker-Smith JA, Unsworth J, Savage MO Bottazzo GF (1986). Protracted diarrhoea in infancy:evidence in support of an autoimmune variant. Br Med J 293:1132-1136.
-
(1986)
Br Med J
, vol.293
, pp. 1132-1136
-
-
Mirakian, R.1
Richardson, A.2
Milla, P.J.3
Walker-Smith, J.A.4
Unsworth, J.5
Savage, M.O.6
Bottazzo, G.F.7
-
13
-
-
0019252743
-
Rothmund-Thomson syndrome (poikiloderma congenitale) associated with hydrocephalus
-
Mitchell EA, Cairns LM, Hodge JL (1980). Rothmund-Thomson syndrome (poikiloderma congenitale) associated with hydrocephalus. Aust Paediatr J 16:290-291.
-
(1980)
Aust Paediatr J
, vol.16
, pp. 290-291
-
-
Mitchell, E.A.1
Cairns, L.M.2
Hodge, J.L.3
-
14
-
-
0028342509
-
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome
-
Orstavik KH, McFadden N, Hagelsteen J, Ormerod E, van der Hagen CB (1994). Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. J Med Genet 31:570-572.
-
(1994)
J Med Genet
, vol.31
, pp. 570-572
-
-
Orstavik, K.H.1
McFadden, N.2
Hagelsteen, J.3
Ormerod, E.4
Van Der Hagen, C.B.5
-
15
-
-
0000635001
-
VACTERL association with hydrocephalus - A new recessive syndrome?
-
Sujanski E, Leonard B (1983). VACTERL association with hydrocephalus - a new recessive syndrome? (Abstract). Am J Hum Genet 35:119A.
-
(1983)
Am J Hum Genet
, vol.35
-
-
Sujanski, E.1
Leonard, B.2
-
16
-
-
0027429318
-
Roberts syndrome: A review of 100 cases and a new rating system for severity
-
Van Den Berg DJ, Francke U (1993). Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 47:1104-1123.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1104-1123
-
-
Van Den Berg, D.J.1
Francke, U.2
-
17
-
-
0026768449
-
Rothmund-Thomson syndrome: Review of the world literature
-
Vennos EM, Collins M, James WD (1992). Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol 27:750-762.
-
(1992)
J Am Acad Dermatol
, vol.27
, pp. 750-762
-
-
Vennos, E.M.1
Collins, M.2
James, W.D.3
-
18
-
-
0025215315
-
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism
-
Ying KL, Oizmi J, Curry CJR (1990). Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. J Med Genet 27:258-260.
-
(1990)
J Med Genet
, vol.27
, pp. 258-260
-
-
Ying, K.L.1
Oizmi, J.2
Curry, C.J.R.3
|