Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
about
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesToward clinical genomics in everyday medicine: perspectives and recommendationsMolecular diagnostic experience of whole-exome sequencing in adult patientsCurrent molecular genetics strategies for the diagnosis of lysosomal storage disorders.Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.Diagnosis of rare diseases under focus: impacts for Canadian patients.Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism.
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P2860
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
@ast
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
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type
label
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
@ast
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
@en
prefLabel
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
@ast
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
@en
P2093
P2860
P50
P1476
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
@en
P2093
James R Lupski
Rebecca Tannenbaum
Samantha Penney
V Reid Sutton
P2860
P304
P356
10.1016/J.EJMG.2014.04.005
P577
2014-04-24T00:00:00Z