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Additional file 2: of Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Autor:
Minkelen, Rick Van, Guitart, Miriam, Conxita Escofet, Yoon, Grace, Elfferich, Peter, Galhana Bolman, Helm, Robert Van Der, Graaf, Raoul Van De, Ouweland, Ans Van Den
Novel APTX variants. (PDF 65 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ba1d7097d626452c22d21f65df66d9
Additional file 1: of Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Autor:
Minkelen, Rick Van, Guitart, Miriam, Conxita Escofet, Yoon, Grace, Elfferich, Peter, Galhana Bolman, Helm, Robert Van Der, Graaf, Raoul Van De, Ouweland, Ans Van Den
MRI scan of index patient(white arrow). (PDF 307 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50f4f1d26f68edfad46527ef55c8465