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Brachyolmia

 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four… Expand
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2013
2013
Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long‐bone… Expand
2012
2012
Background Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic… Expand
2011
2011
BackgroundThe TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and… Expand
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Highly Cited
2010
Highly Cited
2010
Whether animal ion channels functioning as mechanosensors are directly activated by stretch force or indirectly by ligands… Expand
Highly Cited
2008
Highly Cited
2008
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short… Expand
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2003
2003
  • J. Hoo, M. Oliphant
  • American journal of medical genetics. Part A
  • 2003
  • Corpus ID: 42804363
A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with… Expand
1994
1994
We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis… Expand
1991
1991
A 15‐year‐old girl is described with brachyolmia. She presented with short‐trunked dwarfism, hypolordosis of the lower spine and… Expand
1973
1973
Abstract The urinary mucopolysaccharides excreted by four siblings with generalized platyspondyly (brachyolmia) were analyzed by… Expand