Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci, Sara, Wagner, Christine, Grünert, Sarah C., Matysiak, Uta, Weinhold, Natalie, Klein, Jeannette, Porta, Francesco, Spada, Marco, Bordugo, Andrea, Rodella, Giulia, Furlan, Francesca, Sajeva, Anna, Menni, Francesca, Spiekerkoetter, Ute
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
Get full text
Journal Article
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
Cereda, Anna, Mariani, Milena, Rebora, Paola, Sajeva, Anna, Ajmone, Paola Francesca, Gervasini, Cristina, Russo, Silvia, Kullmann, Gaia, Valsecchi, Grazia, Selicorni, Angelo
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2016)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2016)
Get full text
Journal Article
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
Recalcati, Maria Paola, Bonati, Maria Teresa, Beltrami, Nicola, Cardarelli, Laura, Catusi, Ilaria, Costa, Asia, Garzo, Maria, Mammi, Isabella, Mattina, Teresa, Nalesso, Elisa, Nardone, Anna Maria, Postorivo, Diana, Sajeva, Anna, Varricchio, Aminta, Verri, Annapia, Villa, Nicoletta, Larizza, Lidia, Giardino, Daniela
Published in European journal of medical genetics (01.03.2018)
Published in European journal of medical genetics (01.03.2018)
Get full text
Journal Article