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P177 Exomiser is an efficient tool to prioritize candidate genes in cohorts of unsolved myopathy patients
by
Lillback, V.
,
De Feo, M.
,
Johari, M.
,
Vicidomini, G.
,
Hackman, P.
,
Udd, B.
,
Savarese, M.
Published in
Neuromuscular disorders : NMD
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474P Identifying biological pathomechanisms of TTN-affected Myopathies using RNA-sequencing data
by
Gayathri, S. Natraj
,
Jonson, P.
,
Oghabian, A.
,
Lillback, V.
,
Sian, V.
,
Roos, A.
,
Hackman, P.
,
Udd, B.
,
Savarese, M.
Published in
Neuromuscular disorders : NMD
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23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy
by
Mueller, J.
,
Savarese, M.
,
Lillback, V.
,
Perry, L.
,
Zaharieva, I.
,
Pini, V.
,
Sagath, L.
,
Steyaert, W.
,
Hoischen, A.
,
Yepez, V.
,
Esteve-Codina, A.
,
Neveling, K.
,
Topf, A.
,
Muntoni, F.
,
Sarkozy, A.
Published in
Neuromuscular disorders : NMD
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493P Gene prioritization for enhancing molecular diagnosis in rare muscle diseases of singletons
by
Lillback, V.
,
Bergant, G.
,
Di Feo, M.
,
Bozović, I.
,
Torella, A.
,
Johari, M.
,
Maver, A.
,
Pelin, K.
,
Santorelli, F.
,
Nigro, V.
,
Hackman, P.
,
Peterlin, B.
,
Udd, B.
,
Savarese, M.
Published in
Neuromuscular disorders : NMD
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Realism, Constructivism, and Intelligence Analysis
by
Lillbacka, Ralf G. V.
Published in
International journal of intelligence and counterintelligence
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Neuromuscular Disorders : Nmd
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