Johann Gregor Mendel: paragon of experimental science

著者: De Castro, Mauricio
出版年 Mol Genet Genomic Med (2016)

“Dos 7000 componentes eu sou 1”: Carlos Vergara e a ditadura militar; tempos sombrios e o carnaval como espaço de criação na arte contemporânea

著者: Barros de Castro, Mauricio
出版事項 2018

“Dos 7000 componentes eu sou 1”: Carlos Vergara e a ditadura militar; tempos sombrios e o carnaval como espaço de criação na arte contemporânea

著者: Barros de Castro, Mauricio
出版事項 2018

Genetics and Genomic Medicine in Colombia

著者: De Castro, Mauricio, Restrepo, Carlos Martín
出版年 Mol Genet Genomic Med (2015)

Determining the prevalence of McArdle disease from gene frequency by analysis of next generation sequencing data: McArdle prevalence by NGS data

著者: De Castro, Mauricio, Johnston, Jennifer, Biesecker, Leslie
出版年 Genet Med (2015)

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

著者: De Castro, Mauricio J., Turner, Clesson E.
出版年 Mol Genet Genomic Med (2017)

Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

著者: De Castro, Mauricio, Zand, Dina J., Lichter-Konecki, Uta, Kirmse, Brian
出版年 JIMD Rep (2015)

Genomic medicine in the military

著者: De Castro, Mauricio, Biesecker, Leslie G, Turner, Clesson, Brenner, Ruth, Witkop, Catherine, Mehlman, Maxwell, Bradburne, Chris, Green, Robert C
出版年 NPJ Genom Med (2016)

Return of secondary findings in genomic sequencing: Military implications

著者: Hellwig, Lydia D., Turner, Clesson, Manolio, Teri A., Haigney, Mark, James, Cynthia A., Murray, Brittney, Szpisjak, Dale F., Muldoon, Sheila, Estrada‐Veras, Juvianee, Krokosky, Alyson, De Castro, Mauricio J.
出版年 Mol Genet Genomic Med (2018)

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

著者: Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.
出版年 J Inherit Metab Dis (2020)

Complex care of individuals with Multiple Sulfatase Deficiency: clinical cases and consensus statement

著者: Ahrens-Nicklas, Rebecca, Schlotawa, Lars, Ballabio, Andrea, Brunetti-Pierri, Nicola, De Castro, Mauricio, Dierks, Thomas, Eichler, Florian, Ficicioglu, Can, Finglas, Alan, Gaertner, Jutta, Kirmse, Brian, Klepper, Joerg, Lee, Marcus, Olsen, Amber, Parenti, Giancarlo, Vossough, Arastoo, Vanderver, Adeline, Adang, Laura A.
出版年 Mol Genet Metab (2018)

Airmen and Healthcare Providers’ attitudes toward the use of genomic sequencing in the US Air Force: Findings from the MilSeq Project

著者: Pereira, Stacey, Hsu, Rebecca L., Islam, Rubaiya, Robinson, Jill Oliver, Ramapriyan, Rishab, Sirotich, Emily, Maxwell, Megan D., Majumder, Mary, Blout, Carrie L., Christensen, Kurt D., Mehlman, Maxwell, Parasidis, Efthimios, Gardner, Cubby L., Killian, Jacqueline M., De Castro, Mauricio, Green, Robert C., McGuire, Amy L.
出版年 Genet Med (2020)