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Thanatophoric dysplasia, type 2

Known as: Thanatophoric dysplasia with Kleeblattschaedel, Cloverleaf skull with thanatophoric dwarfism, TD2 
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Abstract Oil–source correlation in the cratonic region of the Tarim Basin, NW China has long been controversial. Current… Expand
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Highly Cited
2009
Highly Cited
2009
Osteoporotic fractures are caused by both cortical thinning and trabecular bone loss. Both are seen to be important for bone… Expand
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Highly Cited
2008
Highly Cited
2008
Summary We investigated the diagnostic agreement between teledermatology based on images from a mobile phone camera and face-to… Expand
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Highly Cited
2007
Highly Cited
2007
Plant defense against insect herbivores is mediated in part by enzymes that impair digestive processes in the insect gut. Little… Expand
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Highly Cited
2006
Highly Cited
2006
To determine which of 2 techniques for the treatment of periprosthetic femoral shaft fractures is of greater stiffness. Design: A… Expand
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Highly Cited
2000
Highly Cited
2000
PURPOSE In a meta-analysis of the literature we evaluated the present knowledge of the material properties of cortical and… Expand
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Highly Cited
2000
Highly Cited
2000
The fibroblast growth factor-receptor 3 (FGFR3) Lys650 codon is located within a critical region of the tyrosine kinase-domain… Expand
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Highly Cited
1999
Highly Cited
1999
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with… Expand
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Highly Cited
1998
Highly Cited
1998
Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia… Expand
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Highly Cited
1996
Highly Cited
1996
Despite recent advances in our understanding of the molecular basis of skeletal fragility, little is known about how these… Expand
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