-
1
-
-
0000008683
-
Dominant erbliche akrocephalosyndactylie
-
Pfeiffer, R. A. (1964). Dominant erbliche akrocephalosyndactylie. Z.Kinderhelkd., 90, 301-20
-
(1964)
Z.Kinderhelkd.
, vol.90
, pp. 301-320
-
-
Pfeiffer, R.A.1
-
2
-
-
0027476349
-
Pfeiffer syndrome update: Clinical subtypes and guidelines for differential diagnosis
-
Cohen, M. M. Jr (1993). Pfeiffer syndrome update: clinical subtypes and guidelines for differential diagnosis. Am. J. Med. Genet., 45, 745-50
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 745-750
-
-
Cohen Jr., M.M.1
-
3
-
-
0023832868
-
Mild expression of the Pfeiffer syndrome
-
Rasmussen, S. A. and Frias, J. L. (1988). Mild expression of the Pfeiffer syndrome. Clin. Genet., 33, 5-10
-
(1988)
Clin. Genet.
, vol.33
, pp. 5-10
-
-
Rasmussen, S.A.1
Frias, J.L.2
-
4
-
-
0029132035
-
Fibroblast growth factor receptor mutations in human skeletal disorders
-
Muencke, M. and Schell, U. (1995). Fibroblast growth factor receptor mutations in human skeletal disorders. Trends Genet., 11, 308-13
-
(1995)
Trends Genet.
, vol.11
, pp. 308-313
-
-
Muencke, M.1
Schell, U.2
-
5
-
-
0028046606
-
A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome
-
Muencke, M., Schell, U., Hehr, A. et al. (1995). A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome. Nature Genet., 8, 269-74
-
(1995)
Nature Genet.
, vol.8
, pp. 269-274
-
-
Muencke, M.1
Schell, U.2
Hehr, A.3
-
6
-
-
0028930046
-
Mutations in FGFR1 and FGFR2 cause Pfieffer syndrome
-
Schell, U., Hehr, A., Feldman, G. J. et al. (1995). Mutations in FGFR1 and FGFR2 cause Pfieffer syndrome. Hum. Mol. Genet., 3, 323-8
-
(1995)
Hum. Mol. Genet.
, vol.3
, pp. 323-328
-
-
Schell, U.1
Hehr, A.2
Feldman, G.J.3
-
7
-
-
26844556436
-
Craniosynostosis, kleeblattschadel type
-
Buyse, M. L. (ed.) Cambridge, MA: Blackwell Scientific
-
Hall, J. G. (1990). Craniosynostosis, kleeblattschadel type. In Buyse, M. L. (ed.) Birth Defects Encyclopedia, p. 465. (Cambridge, MA: Blackwell Scientific)
-
(1990)
Birth Defects Encyclopedia
, pp. 465
-
-
Hall, J.G.1
-
9
-
-
0018603873
-
Sonographic in-utero appearance of Kleeblattschaedel syndrome
-
Brahman, S., Jenna, R. and Wittenauer, H. J. (1979). Sonographic in-utero appearance of Kleeblattschaedel syndrome. Clin. Ultrasound, 7, 481-4
-
(1979)
Clin. Ultrasound
, vol.7
, pp. 481-484
-
-
Brahman, S.1
Jenna, R.2
Wittenauer, H.J.3
-
10
-
-
0020465449
-
Sonographic diagnosis of thanatophoric dwarfism in utero
-
Fink, I. J., Filly, R. A., Callen, P. W. et al. (1982). Sonographic diagnosis of thanatophoric dwarfism in utero. J. Ultrasound Med., 1, 337
-
(1982)
J. Ultrasound Med.
, vol.1
, pp. 337
-
-
Fink, I.J.1
Filly, R.A.2
Callen, P.W.3
-
11
-
-
23044451654
-
The significance of the kleeblattschaedel malformation
-
Stevenson, R. E. and Saul, R. A. (1986). The significance of the kleeblattschaedel malformation. Proc. Greenwood Genet. Center, 5, 76
-
(1986)
Proc. Greenwood Genet. Center
, vol.5
, pp. 76
-
-
Stevenson, R.E.1
Saul, R.A.2
-
12
-
-
0028294240
-
Sonographic findings in Pfeiffer syndrome
-
Hill, L. M. and Grzybek, P. C. (1994). Sonographic findings in Pfeiffer syndrome. Prenat. Diagn., 14, 47-9
-
(1994)
Prenat. Diagn.
, vol.14
, pp. 47-49
-
-
Hill, L.M.1
Grzybek, P.C.2
-
13
-
-
0029243620
-
Craniofacial syndromes: No such thing as a single gene disease
-
Mulvihill, J. J. (1995). Craniofacial syndromes: no such thing as a single gene disease. Nature Genet., 9, 101-3
-
(1995)
Nature Genet.
, vol.9
, pp. 101-103
-
-
Mulvihill, J.J.1
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