Search

Author/Creator Bengala, Mario

1. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. (26th February 2019)

Authors:
Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldari...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 13(2019)
Page Start:
2133
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search