Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB
Reis, Bárbara C S, Cunha, Daniela P, Bueno, Ana Paula S, Carvalho, Flavia A A, Dutra, Juliana, Mello, Fabiana V, Ribeiro, Maria Cecília Menks, Milito, Cristiane B, da Costa, Elaine Sobral, Vasconcelos, Zilton
Published in Genes (23.09.2021)
Published in Genes (23.09.2021)
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Journal Article
A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery
Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Chandrabose Sundaramurthi, Jagadish, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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Journal Article
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Danis, Daniel, Bamshad, Michael J, Bridges, Yasemin, Cacheiro, Pilar, Carmody, Leigh C, Chong, Jessica X, Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J, Graefe, Adam S L, Groza, Tudor, Jacobsen, Julius O B, Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S, Marcello, Anthony J, Mattina, Teresa, Mungall, Christopher J, Munoz-Torres, Monica C, Reese, Justin T, Rehburg, Filip, Reis, Bárbara C S, Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F, Zocche, David, Haendel, Melissa A, Robinson, Peter N
Published in medRxiv : the preprint server for health sciences (29.05.2024)
Published in medRxiv : the preprint server for health sciences (29.05.2024)
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Journal Article
Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB
Reis, Bárbara C S, Cunha, Daniela P, Bueno, Ana Paula S, Carvalho, Flavia A A, Dutra, Juliana, Mello, Fabiana V, Ribeiro, Maria Cecília Menks, Milito, Cristiane B, da Costa, Elaine Sobral, Vasconcelos, Zilton
Published in Genes (23.09.2021)
Published in Genes (23.09.2021)
Get full text
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