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Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source
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Dermatitis, 2013
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
openaire +2 more sources
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
openaire +2 more sources
Cold Spring Harbor Protocols, 2016
This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine, Mardis, W Richard, McCombie
openaire +2 more sources
This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine, Mardis, W Richard, McCombie
openaire +2 more sources
Science Signaling, 2013
Gene sequencing of unrelated patients with recurrent airway infections identifies a common underlying mutation.
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Gene sequencing of unrelated patients with recurrent airway infections identifies a common underlying mutation.
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2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
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We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
openaire +1 more source