Spondyloepimetaphyseal dysplasia

 
National Institutes of Health

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Topic mentions per year

1990-2017
01219902017

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2011
2011
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of… (More)
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2004
2004
The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity… (More)
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2003
2003
BACKGROUND Spondyloepimetaphyseal dysplasia (SEMD) is one of a clinically heterogeneous group of skeletal disorders… (More)
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2002
2002
Three additional patients, including a father and daughter, with spondyloepimetaphyseal dysplasia and multiple dislocations are… (More)
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Highly Cited
1998
Highly Cited
1998
The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and… (More)
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1996
1996
This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare… (More)
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1996
1996
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a rare, recessive skeletal dysplasia previously reported almost… (More)
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1995
1995
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… (More)
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1994
1994
We report on a probably new form of spondyloepimetaphyseal dysplasia (SEMD) with an X linked inheritance pattern. Eight males… (More)
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1994
1994
Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewish family. We present a 3.5… (More)
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