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L. De Cosmo
L. De Cosmo
University of Bari
Biology
Missense mutation
Hyperammonemia
Mutation testing
Molecular biology
2
Papers
50
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Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
2012
Gene
Silvia Funghini
Janita Thusberg
M. Spada
Serena Gasperini
Rossella Parini
L Ventura
C. Meli
L. De Cosmo
Michela Sibilio
Sean D. Mooney
Renzo Guerrini
Maria Alice Donati
Amelia Morrone
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Citations (19)
Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?
2004
American Journal of Medical Genetics Part A
Salvatore Grosso
L. De Cosmo
Ernesto Bonifazi
Paolo Galluzzi
Ma Farnetani
P Loffredo
Cecilia Anichini
Rosario Berardi
Guido Morgese
Paolo Balestri
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Citations (31)
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