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Author/Creator Buoni, Sabrina

1. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). Issue 11 (4th September 2015)

Authors:
Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, ...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 11(2015)
Page Start:
738
Record Type:
Journal Article
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2. Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype123. Issue 2 (15th January 2013)

Authors:
Cordelli, Duccio Maria; Garavelli, Livia; Savasta, Salvatore; Guerra, Azzurra; Pellicciari, Alessandro; Giordano, Lucio; Bonetti, Silvia; Cecconi, Ilaria; Wischmeijer, Anita; Seri, Marco; Rosato, Simonetta; Gelmini, Chiara; Della Giustina, Elvio; Ferrari, Anna Rita; Zanotta, Nicoletta; Epifanio, ...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 2(2013:Feb.)
Page Start:
273
Record Type:
Journal Article
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3. Natural history of KBG syndrome in a large European cohort. Issue 24 (21st July 2022)

Authors:
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Ann...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 24(2022)
Page Start:
4131
Record Type:
Journal Article
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4. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. (May 2018)

Authors:
Khaikin, Yannay; Sidky, Sarah; Abdenur, Jose; Anastasi, Arnaud; Ballhausen, Diana; Buoni, Sabrina; Chan, Alicia; Cheillan, David; Dorison, Nathalie; Goldenberg, Alice; Goldstein, Jennifer; Hofstede, Floris C.; Jacquemont, Marie-Line; Koeberl, Dwight D.; Lion-Francois, Laurence; Lund, Allan Meldga...
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 3(2018:May)
Page Start:
369
Record Type:
Journal Article
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