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PubPharm (8)
1
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
enthalten in:
Journal of medical genetics
| 2005
von
McGillivray, G.
|
Savarirayan, R.
|
Cox, T.
| +7
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2
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
enthalten in:
Journal of medical genetics
| 2005
von
Mcgillivray, G.
|
Savarirayan, R.
|
Cox, T.
| +6
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3
The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix
enthalten in:
Journal of medical genetics
| 1996
von
Cole, W.
|
Chow, C.
|
Bateman, J.
| +1
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4
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen
enthalten in:
Journal of medical genetics
| 1996
von
Cole, W.
|
Chan, D.
|
Chow, C.
| +2
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5
The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal proa1(I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix
enthalten in:
Journal of medical genetics
| 1996
von
Cole, W.
|
Chow, C.
|
Bateman, J.
| +1
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6
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the a2(I) chain of type I collagen
enthalten in:
Journal of medical genetics
| 1996
von
Cole, W.
|
Chan, D.
|
Chow, C.
| +2
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7
The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues
enthalten in:
Journal of medical genetics
| 1990
von
Cole, W.
|
Campbell, P.
|
Rogers, J.
| +1
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8
The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen
enthalten in:
Journal of medical genetics
| 1990
von
Cole, W.
|
Chow, C.
|
Rogers, J.
| +1
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1
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Zeitschrift: Journal of medical genetics
Medienart
8
Aufsätze
7
Gedruckte Aufsätze
1
E-Artikel
1
E-Ressourcen
Zeitschriftentitel
Journal of medical genetics
Thema
5
Case Reports
5
Journal Article
5
Research Support, Non-U.S. Gov't
3
Procollagen
2
9007-34-5
2
Collagen
1
EC 2.7.10.1
1
FGFR2 protein, human
1
Glycine
1
HG18B9YRS7
1
Peptide Fragments
1
Receptor, Fibroblast Growth Factor, Type 2
1
TE7660XO1C
1
Valine
1
procollagen type I carboxy terminal peptide
Alle anzeigen ...
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Erscheinungszeitraum
2
2000-
6
1900-1999
Erscheinungsjahr(e)
Von:
Bis:
Sprache
5
Englisch
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