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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
by
Sanchis-Juan, Alba
,
Megy, Karyn
,
Stephens, Jonathan
,
Armirola Ricaurte, Camila
,
Dewhurst, Eleanor
,
Low, Kayyi
,
French, Courtney E.
,
Grozeva, Detelina
,
Stirrups, Kathleen
,
Erwood, Marie
,
McTague, Amy
,
Penkett, Christopher J.
,
Shamardina, Olga
,
Tuna, Salih
,
Daugherty, Louise C.
,
Gleadall, Nicholas
,
Duarte, Sofia T.
,
Hedrera-Fernández, Antonio
,
Vogt, Julie
,
Ambegaonkar, Gautam
,
Chitre, Manali
,
Josifova, Dragana
,
Kurian, Manju A.
,
Parker, Alasdair
,
Rankin, Julia
,
Reid, Evan
,
Wakeling, Emma
,
Wassmer, Evangeline
,
Woods, C. Geoffrey
,
Raymond, F. Lucy
,
Carss, Keren J.
Published in
American journal of human genetics
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
by
Malcorps, Matilde
,
Amor-Barris, Silvia
,
Burnyte, Birute
,
Vilimiene, Ramune
,
Armirola-Ricaurte, Camila
,
Grigalioniene, Kristina
,
Ekshteyn, Alexandra
,
Morkuniene, Ausra
,
Vaitkevicius, Arunas
,
De Vriendt, Els
,
Baets, Jonathan
,
Scherer, Steven S
,
Ambrozaityte, Laima
,
Utkus, Algirdas
,
Jordanova, Albena
,
Peeters, Kristien
Published in
Orphanet journal of rare diseases
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