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  4. TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
 
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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Author(s)
Musante Luciana 
Faletra Flavio 
Kolja Meier
Hoda Tomoum
Paria Najarzadeh Torbati
Edward Blair
Sally North
Jutta Gärtner
Susann Diegmann
Mehran Beiraghi Toosi
Farah Ashrafzadeh
Ehsan Ghayoor Karimiani
David Murphy
Murru Flora Maria 
Zanus Caterina 
Magnolato Andrea 
La Bianca Martina 
Agnese Feresin
Girotto Giorgia 
Gasparini Paolo 
Costa Paola 
Carrozzi Marco 
DOI
10.1002/ajmg.a.62852
Project(s)
Percorso diagnostico molecolare per l¿identificazione di alterazioni genetiche in pazienti con epilessia 
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C.A.R.S.O. - I.R.C.C.S. materno infantile Burlo Garofolo

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