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Author/Creator Tolve, Manuela

1. Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance. Issue 1 (15th November 2021)

Authors:
Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lore...
Journal:
Human mutation
Issue:
Volume 43:Issue 1(2022)
Page Start:
67
Record Type:
Journal Article
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2. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Issue 2 (16th August 2020)

Authors:
Marti‐Sanchez, Laura; Baide‐Mairena, Heidy; Marcé‐Grau, Anna; Pons, Roser; Skouma, Anastasia; López‐Laso, Eduardo; Sigatullina, Maria; Rizzo, Cristiano; Semeraro, Michela; Martinelli, Diego; Carrozzo, Rosalba; Dionisi‐Vici, Carlo; González‐Gutiérrez‐Solana, Luis; Correa‐Vela, Marta; Ortigoza‐Esco...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
401
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan. Issue 1 (19th May 2020)

Authors:
Carducci, Carla; Amayreh, Wajdi; Ababneh, Haneen; Mahasneh, Amjad; Al Rababah, Buthaina; Al Qaqa, Kefah; Al Aqeel, Momen; Artiola, Cristiana; Tolve, Manuela; D'Amici, Sirio; Shen, Nan; Yu, Yongguo; Hillert, Alicia; Himmelreich, Nastassja; Okun, Jürgen G.; Hoffmann, Georg F.; Blau, Nenad
Journal:
JIMD reports
Issue:
Volume 55:Issue 1(2020)
Page Start:
59
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗