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Brachyolmia

National Institutes of Health

Papers overview

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2015
2015
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four… 
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2013
2013
Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long‐bone… 
2012
2012
Background Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic… 
2011
2011
BackgroundThe TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and… 
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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… 
Highly Cited
2008
Highly Cited
2008
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short… 
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1994
1994
We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis… 
1994
1994
Brachyolmia is a form of spondylodysplasia that has not to the authors' knowledge been described in the UK. It may be a cause of… 
1991
1991
A 15‐year‐old girl is described with brachyolmia. She presented with short‐trunked dwarfism, hypolordosis of the lower spine and… 
Review
1989
Review
1989
Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal…