Spondyloepimetaphyseal dysplasia, sponastrime type

Known as: Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation, Sponastrime dysplasia, Spondylar and nasal alterations with striated metaphyses 
A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1950-2017
020406019502016

Papers overview

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Highly Cited
2015
Highly Cited
2015
Toward development of a precision medicine framework for metastatic, castration-resistant prostate cancer (mCRPC), we established… (More)
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Highly Cited
2013
Highly Cited
2013
PURPOSE Patients with hematologic malignancies are increasingly admitted to the intensive care unit (ICU) when life-threatening… (More)
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Highly Cited
2011
Highly Cited
2011
Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique that alters cortical excitability… (More)
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Highly Cited
2009
Highly Cited
2009
TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), a B cell- specific… (More)
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Highly Cited
2004
Highly Cited
2004
We assessed core gender identity, sexual orientation, and recalled childhood gender role behavior in 16 women and 9 men with CAH… (More)
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Highly Cited
2000
Highly Cited
2000
Biotic invaders are species that establish a new range in which they proliferate, spread, and persist to the detriment of the… (More)
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Highly Cited
1997
Highly Cited
1997
Primary extranodal malignant non-Hodgkin's lymphoma arising from the mucosa-associated lymphoid tissue (MALT-type lymphoma… (More)
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Highly Cited
1995
Highly Cited
1995
Rett syndrome, the commonest condition associated with severe mental retardation in girls, is diagnosed only by its clinical… (More)
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Highly Cited
1995
Highly Cited
1995
Messenger RNA for brain-derived neurotrophic factor (BDNF) is distributed in many brain regions and regulated by excitatory… (More)
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Highly Cited
1987
Highly Cited
1987
We examined the quantitative influence of carefully controlled alterations in end-diastolic volume and afterload resistance on… (More)
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