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Erin Conboy
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Erin Conboy
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Erin Conboy
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1
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
by
Erin
Conboy
,
Filippo Vairo
,
Darrel Waggoner
,
Carole Ober
,
Soma Das
,
Radhika Dhamija
,
Eric W. Klee
,
Pavel Pichurin
Published 2017-01-01
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Article
2
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients
by
Filippo Pinto Vairo
,
Nicole J. Boczek
,
Margot A. Cousin
,
Charu Kaiwar
,
Patrick R. Blackburn
,
Erin
Conboy
,
Brendan C. Lanpher
,
Ralitza H. Gavrilova
,
Pavel N. Pichurin
,
Konstantinos N. Lazaridis
,
Dusica Babovic-Vuksanovic
,
Eric W. Klee
Published 2017-12-01
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Article
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