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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2011
2011
The efficacy of Roux-en-Y gastric bypass (RYGB) to control type 2 diabetes mellitus (T2DM) has been demonstrated in morbidly… (More)
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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… (More)
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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… (More)
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2006
2006
UNLABELLED To determine which of 2 techniques for the treatment of periprosthetic femoral shaft fractures is of greater stiffness… (More)
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2001
2001
Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular… (More)
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Highly Cited
2001
Highly Cited
2001
  • Robert J. Hodricka, Xiaoyan Zhanga
  • 2001
This paper evaluates the specification errors of several empirical asset pricing models that have been developed as potential… (More)
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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… (More)
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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… (More)
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1998
1998
Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia… (More)
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Highly Cited
1996
Highly Cited
1996
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly… (More)
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