Spondylometaphyseal dysplasia, Kozlowski type

Known as: SMD, KOZLOWSKI TYPE, SMDK 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1971-2017
0119712017

Papers overview

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2017
2017
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has… (More)
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Review
2012
Review
2012
Dominant mutations in the TRPV4 gene result in a bone dysplasia family and form a continuous phenotypic spectrum that includes… (More)
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2011
2011
BACKGROUND The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli… (More)
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Highly Cited
2009
Highly Cited
2009
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae… (More)
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1994
1994
smdk is a cross-disciplinary project by Knowbotic Research that results from an exchange of working techniques between media… (More)
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1971
1971
  • W Zawadowski
  • Polski przeglad radiologii i medycyny nuklearnej
  • 1971
 
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