Your account is not claimed yet. You can sign up with ORCID to claim your account.

Livia Garavelli

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2021
Publications (10 Years): 8

Top Venues

American journal of medical genetics. Part A

Human genetics

Journal of pediatric endocrinology & metabolism : JPEM

This page only lists publications with an associated author ORCID identifier.

Publications

Licia Lugli, Marzia Pollazzon, Stefania Bigoni, Stefano Giuseppe Caraffi, Alessandra Ferlini, Lorenzo Ferri, Amelia Morrone, Olga Calabrese, Lorenzo Iughetti, Livia Garavelli, Alberto Berardi
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG". American journal of medical genetics. Part A (2021)
Viola Trevisani, Barbara Predieri, Simona Filomena Madeo, Carlo Fusco, Livia Garavelli, Stefano Caraffi, Lorenzo Iughetti
Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene. Journal of pediatric endocrinology & metabolism : JPEM (2021)
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos-Xavier, Andrea Superti-Furga
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia. American journal of medical genetics. Part A (2021)
Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Stefano Giuseppe Caraffi, Gabriele Trimarchi, Claudio Moratti, Rosario Pascarella, Livia Garavelli, Carlo Fusco
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review. American journal of medical genetics. Part A 182 (11) (2020)
Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Edibe Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi, Sabrina Rita Giglio
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. Human genetics 140 (4) (2020)
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, Ilenia Maini, Marzia Pollazzon, Simonetta Rosato, Gabriele Trimarchi, Anna Lauriello, Maria Marinelli, Davide Nicoli, Chiara Baldo, Steven Laurie, Josue A Flores-Daboub, Aldesia Provenzano, Elena Andreucci, Francesca Peluso, Renata Rizzo, Helen Stewart, Katherine Lachlan, Allan Bayat, Manuela Napoli, Giorgia Carboni, Janice Baker, Alyssa Mendel, Gianluca Piatelli, Chiara Pantaleoni, Teresa Mattina, Paolo Prontera, Nancy J Mendelsohn, Sabrina Giglio, Orsetta Zuffardi, Livia Garavelli
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. American journal of medical genetics. Part A 182 (12) (2020)
Ivan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, Chiara Gelmini, Stefano Giuseppe Caraffi, Mahboubeh Mansouri, Zahra Chavoshzadeh, Simonetta Rosato, Valeria Polizzi, Giancarlo Gargano, Marielle Alders, Livia Garavelli, Raoul C Hennekam
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. American journal of medical genetics. Part A 176 (5) (2019)
Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, Francesca Romana Lepri, Maria Gnazzo, Edoardo Errichiello, Andrea Superti-Furga, Livia Garavelli
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. American journal of medical genetics. Part A 176 (9) (2018)

Livia Garavelli.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Livia Garavelli