Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

BACKGROUND: Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elus...

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書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: Todd, Emily J., Yau, Kyle S., Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P., Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F., Freckmann, Mary-Louise, Romero, Norma B., Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M., Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J.N., Beeson, David, Maxwell, Susan, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
格式: Artigo
語言:Inglês
出版: BioMed Central 2015
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4650299/
https://ncbi.nlm.nih.gov/pubmed/26578207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0364-0
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