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Spondyloepimetaphyseal dysplasia, sponastrime type

Known as: SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES, Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation, Sponastrime Dysplasia 
A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal… Expand
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
IMPORTANCE The Zika virus (ZIKV) might cause microcephaly and ophthalmoscopic findings in infants of mothers infected during… Expand
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Highly Cited
2012
Highly Cited
2012
Tubers are cerebral cortical developmental malformations associated with epilepsy and autism in tuberous sclerosis complex (TSC… Expand
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2012
2012
BackgroundThe selection of developmentally competent human gametes may increase the efficiency of assisted reproduction… Expand
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2011
2011
The contribution of hemorheological alterations in the prothrombotic condition in patients with metabolic syndrome (MS) remains a… Expand
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Highly Cited
2011
Highly Cited
2011
The Neoproterozoic Era is of widespread geobiological interest because it marks the critical transition from a world of microbes… Expand
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Highly Cited
2008
Highly Cited
2008
Beside chemical properties and topographical features, mechanical properties of gels have been recently demonstrated to play an… Expand
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Review
2007
Review
2007
Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such… Expand
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Highly Cited
2005
Highly Cited
2005
Integrated structural-petrographic-magnetic-basin modeling case studies in numerous foreland fold-and-thrust belts provided key… Expand
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Highly Cited
2003
Highly Cited
2003
Regional analysis of new 2D and 3D multichannel seismic data has improved interpretation of the crustal configuration and… Expand
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Highly Cited
1991
Highly Cited
1991
Tumuli are positive topographic features that are common on Hawaiian pahoehoe lava flow fields, particularly on shallow slopes… Expand
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