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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Apoptosis imaging in oncology by means of positron emission tomography : a review
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Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected
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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
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PSMA-targeting positron emission agents for imaging solid tumors other than non-prostate carcinoma : a systematic review
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No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients