Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Antonio Cárdenas-Tadich"'
Autor:
Francisco Cammarata-Scalisi, Antonio Cárdenas-Tadich, Marco Medina, Marcia Vega, Michele Callea
Publikováno v:
Revista Peruana de Investigación en Salud, Vol 4, Iss 3, Pp 132-133 (2020)
Externí odkaz:
https://doaj.org/article/8e3d2cf5720d413391956f27bb68f826
Autor:
Francisco Cammarata-Scalisi, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, Marco Medina, Piercesare Grimaldi, Enrico Bertini, Julián Nevado
Publikováno v:
Genes. 13(3)
Phelan–McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28caef58d68e8346292eed3815253a93
https://pubmed.ncbi.nlm.nih.gov/35328058
https://pubmed.ncbi.nlm.nih.gov/35328058
Autor:
Gunda Ruzaike, Andrea Avendaño, Colin E. Willoughby, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Michele Callea, Antonio Cárdenas Tadich, Uta Matysiak, Houweyda Jilani, Ana Bracho, Carmen Zara-Chirinos
Publikováno v:
Journal of Pediatric Genetics.
Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a20b3b232796cd58d7e87bc2756c0739
https://doi.org/10.1055/s-0041-1732474
https://doi.org/10.1055/s-0041-1732474
Publikováno v:
Archivos argentinos de pediatria. 118(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bf8d3e8e1ae4efec8b553e649ed562
https://pubmed.ncbi.nlm.nih.gov/32924391
https://pubmed.ncbi.nlm.nih.gov/32924391
Publikováno v:
Archivos argentinos de pediatria. 118(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceded46ebc8a85cc781e6b64ab6b67fb
https://pubmed.ncbi.nlm.nih.gov/32677781
https://pubmed.ncbi.nlm.nih.gov/32677781
Autor:
Michele Callea, Diana Perry, Francisco Cammarata-Scalisi, Antonio Cárdenas Tadich, Ulrike Holzer, Giulia Fedele, Colin E. Willoughby
Publikováno v:
Dermatologic Therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2315e316e4faa0f37a064cbcfa7cdc86
https://doi.org/10.1111/dth.13702
https://doi.org/10.1111/dth.13702
Autor:
Colin E. Willoughby, Francisco Cammarata-Scalisi, Antonio Cárdenas Tadich, Adriana Herrera, Michele Callea, Nancy Labrador
Publikováno v:
Dermatologic therapyREFERENCES. 33(4)
Keratitis-ichthyosis-deafness (KID syndrome) is a syndromes ichthyoses that is clinically and genetically heterogeneous requiring early and long-term multidisciplinary monitoring of affected individuals. A review of the clinical, etiopathogenic and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e17e26b2c6e0f46bccb372ff095bbcc8
https://pubmed.ncbi.nlm.nih.gov/32367610
https://pubmed.ncbi.nlm.nih.gov/32367610
Autor:
Michele Callea, Antonio Cárdenas-Tadich, Marco Medina, Marcia Vega, Francisco Cammarata-Scalisi
Publikováno v:
Revista Peruana de Investigación en Salud, Vol 4, Iss 3, Pp 132-133 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e68bee301572ba349092b736e88cc6
https://doi.org/10.35839/repis.4.3.736
https://doi.org/10.35839/repis.4.3.736