Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
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Bardet-Biedl SyndromeUse of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersGenetics of human Bardet-Biedl syndrome, an updates.A systematic review of genetic syndromes with obesity.Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
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Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
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2014 nî lūn-bûn
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2014年の論文
@ja
2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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2014年學術文章
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name
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@en
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@nl
type
label
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@en
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@nl
prefLabel
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@en
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@nl
P2093
P2860
P356
P1476
Mutation profile of BBS genes ...... l mutations in five BBS genes.
@en
P2093
Amin Najmabadi
Hossein Najmabadi
Marzieh Mohseni
Mohammad Reza Akbari
Parvin Rostami
Zohreh Fattahi
P2860
P2888
P304
P356
10.1038/JHG.2014.28
P577
2014-05-22T00:00:00Z
P6179
1038555807