Pages that link to "Q35896989"
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The following pages link to An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia (Q35896989):
Displaying 18 items.
- Current status and new features of the Consensus Coding Sequence database (Q24567717) (← links)
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. (Q30833220) (← links)
- Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data (Q31027821) (← links)
- Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy (Q33620795) (← links)
- Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered (Q34479143) (← links)
- High throughput exome coverage of clinically relevant cardiac genes (Q34748669) (← links)
- Next generation sequencing for neurological diseases: new hope or new hype? (Q36959370) (← links)
- Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation (Q37235123) (← links)
- Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis (Q37589634) (← links)
- Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders (Q38065979) (← links)
- Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing. (Q38931273) (← links)
- Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders (Q42715529) (← links)
- Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests (Q44840963) (← links)
- Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C. (Q50887470) (← links)
- Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. (Q51010632) (← links)
- Exome and whole-genome sequencing for gene discovery: the future is now! (Q51620246) (← links)
- Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton (Q59876045) (← links)
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study (Q99568795) (← links)