Knobloch syndrome

Known as: Retinal detachment occipital encephalocele, KNO1, KNO 
 
National Institutes of Health

Papers overview

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2013
2013
A three-pronged coordinated research effort was undertaken by cooperating utilities at three different experimental scales… (More)
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2012
2012
BACKGROUND Knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with… (More)
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2011
2011
BACKGROUND Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo… (More)
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Highly Cited
2005
Highly Cited
2005
  • AACCGTATCCGCAAAGTGCC, AGTTCATTCAGGGTCTCAGGGAG, +7 authors ATCGCTGTCATAGCCAGTGTCC
  • 2005
Activating mutations in fibroblast growth factor receptor-3 (FGFR3) result in human dwarfisms ranging from the mildest condition… (More)
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2001
2001
Intact spinach and barley chloroplast normally incorporate "C-acetate into palmitate and oleate as the major "C fatty acids… (More)
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Highly Cited
2000
Highly Cited
1997
Highly Cited
1997
o A quantum error-correcting code is a way of encodi quantum states into qubits (two-state quantum systems that error or… (More)
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Highly Cited
1997
Highly Cited
1997
 In most maize-growing areas yield reductions due to drought have been observed. Drought at flowering time is, in some cases, the… (More)
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Highly Cited
1995
Highly Cited
1995
1. Nitric oxide (NO), an inhibitory neurotransmitter released from peripheral neurones, hyperpolarizes smooth muscle cells and… (More)
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1992
1992
Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects… (More)
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