Pili torti-deafness syndrome

Known as: Bjornstad syndrome, Pili torti and nerve deafness, Pili torti-sensorineural hearing loss 
 
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular… (More)
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Highly Cited
2012
Highly Cited
2012
The karyotype is so far the most important prognostic parameter in acute myeloid leukemia (AML). Molecular mutations have been… (More)
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Highly Cited
2012
Highly Cited
2012
BACKGROUND It is unknown whether adverse birth outcomes are associated with maternal highly active antiretroviral therapy (HAART… (More)
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Highly Cited
2009
Highly Cited
2009
RNA interference (RNAi) induced by short interfering RNA (siRNA) allows for discovery research and large-scale screening; however… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE To prospectively assess pelvic and para-aortic lymph node metastases in endometrial cancer with lymphatic dissemination… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE To determine whether the pattern of prenatal stress, as compared to prenatal stress assessed at a single gestational… (More)
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Highly Cited
2006
Highly Cited
2006
The present paper deals with a new efficient approach in order to assess the simulation of scattered fields from arbitrary… (More)
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Highly Cited
2005
Highly Cited
2005
The planar spring-mass model is frequently used to describe bouncing gaits (running, hopping, trotting, galloping) in animal and… (More)
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Highly Cited
2005
Highly Cited
2005
PURPOSE To test the prognostic significance of ETS-related gene (ERG) expression in cytogenetically normal primary acute myeloid… (More)
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Highly Cited
2002
Highly Cited
2002
Bcl-xL is a well characterized death-suppressing molecule of the Bcl-2 family. Bcl-xL is expressed in embryonic and adult neurons… (More)
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