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Maria Teresa Falco
Maria Teresa Falco
Genetics
Smith–Magenis syndrome
Retinoic acid induced 1
Frameshift mutation
Exome sequencing
2
Papers
7
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0
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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
2021
American Journal of Medical Genetics Part A
Maria Giovanna Tedesco
Fortunato Lonardo
Caterina Ceccarini
Carla Cesarano
Maria Cristina Digilio
Monia Magliozzi
Daniela Rogaia
Amedea Mencarelli
Chiara Leoni
Carmelo Piscopo
Valentina Imperatore
Maria Teresa Falco
Paolo Fontana
Anna Maria Nardone
Antonio Novelli
Stefania Troiani
Marco Seri
Paolo Prontera
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First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation
2017
American Journal of Medical Genetics Part A
Fabio Acquaviva
Maria Elena Sana
Matteo Della Monica
Michele Pinelli
Diana Postorivo
Paolo Fontana
Maria Teresa Falco
Anna Maria Nardone
Fortunato Lonardo
Maria Iascone
Gioacchino Scarano
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Citations (7)
1