Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anna Sajeva"'
Autor:
Giulia Rodella, Uta Matysiak, Jeannette Klein, Anna Sajeva, Natalie Weinhold, Francesca Menni, Christine Wagner, Sara Tucci, Francesca Furlan, Marco Spada, Sarah C. Grünert, Francesco Porta, A. Bordugo, Ute Spiekerkoetter
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(4)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial β-oxidation. Confirmation diagnostics after newborn screening (NBS) can be performed either by enzyme testing and/or by sequencing of the ACADM gene. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8019cf8c25970cfb54f971da699adb56
https://pubmed.ncbi.nlm.nih.gov/33580884
https://pubmed.ncbi.nlm.nih.gov/33580884
Autor:
Isabella Mammi, Diana Postorivo, Aminta Varricchio, Maria Garzo, Elisa Nalesso, Teresa Mattina, Ilaria Catusi, Maria Paola Recalcati, Laura Cardarelli, Nicola Beltrami, Anna Sajeva, Maria Teresa Bonati, Daniela Giardino, Annapia Verri, Lidia Larizza, Asia Costa, Nicoletta Villa, Anna Maria Nardone
Publikováno v:
European Journal of Medical Genetics. 61:173-180
Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee44c49bf4aa6e1d6440e91216290a5
https://doi.org/10.1016/j.ejmg.2017.11.007
https://doi.org/10.1016/j.ejmg.2017.11.007
Autor:
Milena Mariani, Anna Sajeva, Silvia Russo, Cristina Gervasini, Grazia Valsecchi, Angelo Selicorni, Anna Cereda, Gaia Kullmann, Paola Francesca Ajmone, Paola Rebora
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:179-189
Cornelia de Lange syndrome is a well-known multiple congenital anomalies/intellectual disability syndrome with genetic heterogeneity and wide clinical variability, regarding the severity of both the intellectual disabilities and the physical features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03cde3d0d3a3ccdf1d0444acd7df5546
https://doi.org/10.1002/ajmg.c.31494
https://doi.org/10.1002/ajmg.c.31494
Autor:
Anna, Cereda, Milena, Mariani, Paola, Rebora, Anna, Sajeva, Paola Francesca, Ajmone, Cristina, Gervasini, Silvia, Russo, Gaia, Kullmann, Grazia, Valsecchi, Angelo, Selicorni
Cornelia de Lange syndrome is a well-known multiple congenital anomalies/intellectual disability syndrome with genetic heterogeneity and wide clinical variability, regarding the severity of both the intellectual disabilities and the physical features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::040e69f83a7f09a577c4b23389022fcd
http://hdl.handle.net/10281/137306
http://hdl.handle.net/10281/137306
