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Villanueva et al., 2015 - Google Patents

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

Villanueva et al., 2015

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Document ID
345518369815520687
Author
Villanueva P
Nudel R
Hoischen A
Fernández M
Simpson N
Gilissen C
Reader R
Jara L
Echeverry M
Francks C
Baird G
Conti-Ramsden G
O’Hare A
Bolton P
Hennessy E
SLI Consortium
Palomino H
Carvajal-Carmona L
Veltman J
Cazier J
De Barbieri Z
Fisher S
Newbury D
Publication year
Publication venue
PLoS genetics

External Links

Snippet

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
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    • C12Q1/6881—Hybridisation probes for tissue and cell typing, e.g. HLA probes
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    • C12Q2600/00—Oligonucleotides characterized by their use
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
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