Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Valentina, Bruni"'
Autor:
Giovanni Galeoto, Julita Sansoni, Michela Scuccimarri, Valentina Bruni, Rita De Santis, Mariele Colucci, Donatella Valente, Marco Tofani
Publikováno v:
Depression Research and Treatment, Vol 2018 (2018)
Objective. The Geriatric Depression Scale (GDS) is an evaluation tool to diagnose older adult’s depression. This questionnaire was defined by Yesavage and Brink in 1982; it was designed expressly for the older person and defines his/her degree of s
Externí odkaz:
https://doaj.org/article/1058e95d431c41979f9a9e2e317fb4ff
Autor:
Antonio Novelli, Daniela Concolino, Maria Gnazzo, Licia Pensabene, Simona Sestito, Valentina Bruni, F Parisi, Cristina Scozzafava
Publikováno v:
J Pediatr Genet
Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fec00bb573c110bf03e524ed52d90603
https://doi.org/10.1055/s-0040-1701645
https://doi.org/10.1055/s-0040-1701645
Autor:
Emanuele Bellacchio, Carmela Votino, Vincenzo Dattilo, Cristina Barbara Spoleti, Emma Colao, Sabrina Giglio, Rodolfo Iuliano, Nicola Perrotti, Valentina Bruni, Andrea La Barbera
Publikováno v:
Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1395, p 1395 (2021)
Volume 12
Issue 9
Genes, Vol 12, Iss 1395, p 1395 (2021)
Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341912436167562822c456301b1e5ae6
Autor:
Valentina, Bruni, Cristina Barbara, Spoleti, Andrea, La Barbera, Vincenzo, Dattilo, Emma, Colao, Carmela, Votino, Emanuele, Bellacchio, Nicola, Perrotti, Sabrina, Giglio, Rodolfo, Iuliano
Publikováno v:
Genes
Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::10c20e6e511b6053290cae6f527d4aa9
https://pubmed.ncbi.nlm.nih.gov/34573377
https://pubmed.ncbi.nlm.nih.gov/34573377
Autor:
Francesca Scionti, Licia Pensabene, Maria Teresa Di Martino, Valentina Bruni, Daniela Concolino, K Roppa, Simona Sestito, Rosalbina Apa
Publikováno v:
Cytogenetic and Genome Research. 158:74-82
Deletion of distal 9p is associated with a rare clinical condition characterized by dysmorphic features, developmental delay, and ambiguous genitalia. The phenotype shows variable expressivity and is related to the size of the deletion. 8q24 duplicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ce935eb54f9c004d040750ec77f0a7
https://doi.org/10.1159/000500619
https://doi.org/10.1159/000500619
Autor:
Valentina Bruni, Maria Teresa Di Martino, Licia Pensabene, Daniela Concolino, Francesca Scionti
Publikováno v:
High-Throughput, Vol 7, Iss 3, p 28 (2018)
High-Throughput
High-Throughput
Submicroscopic chromosomal copy number variations (CNVs), such as deletions and duplications, account for about 15–20% of patients affected with developmental delay, intellectual disability, multiple congenital anomalies, and autism spectrum disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff9dabccbe998d750608757e43f7f9ff
http://www.mdpi.com/2571-5135/7/3/28
http://www.mdpi.com/2571-5135/7/3/28
Autor:
Mariele Colucci, Rita De Santis, Marco Tofani, Valentina Bruni, Julita Sansoni, Michela Scuccimarri, Donatella Valente, Giovanni Galeoto
Publikováno v:
Depression Research and Treatment, Vol 2018 (2018)
Depression Research and Treatment
Depression Research and Treatment
Objective. The Geriatric Depression Scale (GDS) is an evaluation tool to diagnose older adult’s depression. This questionnaire was defined by Yesavage and Brink in 1982; it was designed expressly for the older person and defines his/her degree of s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a0e2fab0f86ddc396ca37dbb4080c9
Autor:
Andrea Garlatti, Valentina Bruni
Publikováno v:
MECOSAN. :81-104
Il dibattito sui costi della distribuzione dei farmaci e spesso caratterizzato da una logica di contrapposizione tra pubblico e privato, con limitati approfondimenti dei fenomeni gestionali. L’articolo analizza un caso aziendale, considerando proce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56f87868f089494f6522b07008e3d67e
https://doi.org/10.3280/mesa2014-091005
https://doi.org/10.3280/mesa2014-091005