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BARDET-BIEDL SYNDROME 6

Known as: BBS6 
 
National Institutes of Health

Papers overview

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2017
2017
Purpose To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin… Expand
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Highly Cited
2010
Highly Cited
2010
Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and… Expand
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2009
2009
Bardet-Biedl syndrome is a heterogeneous disorder causing a spectrum of symptoms, including visual impairment, kidney disease… Expand
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Highly Cited
2008
Highly Cited
2008
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and… Expand
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Highly Cited
2005
Highly Cited
2005
Chaperonins are multisubunit, cylinder-shaped molecular chaperones involved in folding newly synthesized polypeptides. Here we… Expand
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2005
2005
Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis… Expand
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2003
2003
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by the primary features of obesity, retinal… Expand
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2002
2002
Bardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome (LMBBS), has long been regarded as an autosomal… Expand
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Highly Cited
2001
Highly Cited
2001
Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary… Expand
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2001
2001
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal… Expand
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