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Benedetta Contardi
Benedetta Contardi
American Pharmacists Association
Exome sequencing
Epilepsy
Adenylosuccinate lyase deficiency
Medicine
Pathology
2
Papers
7
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0
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Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
2021
Orphanet Journal of Rare Diseases
Gerarda Mastrogiorgio
Marina Macchiaiolo
Paola Sabrina Buonuomo
Emanuele Bellacchio
Matteo Bordi
Davide Vecchio
Kari Payne Brown
Natalie Karen Watson
Benedetta Contardi
Francesco Cecconi
Marco Tartaglia
Andrea Bartuli
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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
2017
Italian Journal of Pediatrics
Marina Macchiaiolo
Sabina Barresi
Francesco Cecconi
Ginevra Zanni
Marcello Niceta
Emanuele Bellacchio
Giacomo Lazzarino
Angela Maria Amorini
Enrico Bertini
Salvatore Rizza
Benedetta Contardi
Marco Tartaglia
Andrea Bartuli
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Citations (7)
1