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SYMPHALANGISM, PROXIMAL

Known as: Hereditary absence of proximal interphalangeal joints, Cushing Symphalangism, Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome 
 
National Institutes of Health

Papers overview

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2018
2018
IntroductionContemporary metabolomic fingerprinting is based on multiple spectrometric and chromatographic signals, used either… Expand
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2014
2014
The access of bone morphogenetic protein (BMP) to the BMP receptors on the cell surface is regulated by its antagonist noggin… Expand
2014
2014
In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal… Expand
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2012
2012
Eduard Strasburger was one of the most prominent biologists contributing to the development of the Cell Theory during the… Expand
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2005
2005
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by… Expand
2005
2005
  • O. Reuterwall
  • Virchows Archiv für pathologische Anatomie und…
  • 2005
  • Corpus ID: 6557421
In einer im vorigen Jahre verbffentltehten Arbeit 1) habe ieh die Grundprinzipien vorgelegt, nach welchen man meines Eraehtens… Expand
Highly Cited
2002
Highly Cited
2002
Although fixation of the stapes is usually progressive and secondary to otosclerosis, it may present congenitally, with other… Expand
Highly Cited
2001
Highly Cited
2001
Purpose: To identify the gene causing tarsal/carpal coalition syndrome (TCC).Methods: Individuals from three kindreds with TCC… Expand
Highly Cited
2001
Highly Cited
2001
Proximal symphalangism is an autosomal‐dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal… Expand
1990
1990
A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism… Expand