Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function
Aluri, Jahnavi, Bach, Alicia, Kaviany, Saara, Chiquetto Paracatu, Luana, Kitcharoensakkul, Maleewan, Walkiewicz, Magdalena A., Putnam, Christopher D., Shinawi, Marwan, Saucier, Nermina, Rizzi, Elise M., Harmon, Michael T., Keppel, Molly P., Ritter, Michelle, Similuk, Morgan, Kulm, Elaine, Joyce, Michael, de Jesus, Adriana A., Goldbach-Mansky, Raphaela, Lee, Yi-Shan, Cella, Marina, Kendall, Peggy L., Dinauer, Mary C., Bednarski, Jeffrey J., Bemrich-Stolz, Christina, Canna, Scott W., Abraham, Shirley M., Demczko, Matthew M., Powell, Jonathan, Jones, Stacie M., Scurlock, Amy M., De Ravin, Suk See, Bleesing, Jack J., Connelly, James A., Rao, V. Koneti, Schuettpelz, Laura G., Cooper, Megan A.
Published in Blood (06.05.2021)
Published in Blood (06.05.2021)
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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine
Published in American journal of human genetics (03.07.2014)
Published in American journal of human genetics (03.07.2014)
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Journal Article
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B
Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.
Published in Molecular genetics and metabolism (01.03.2017)
Published in Molecular genetics and metabolism (01.03.2017)
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Journal Article
Breast cancer in pregnancy: case report
Kondamudi Vasantha, Abraham Shirley, Rimpel Bernard, Xiao Phillip, Guevara Elizabeth, Momah Tobe, Carryl Stephen
Published in The Pan African medical journal (19.04.2010)
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Published in The Pan African medical journal (19.04.2010)
Journal Article
A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort
Haley, Kristina M, Sidonio, Jr, Robert F, Abraham, Shirley, Cheng, Dunlei, Recht, Michael, Kulkarni, Roshni
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.05.2020)
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.05.2020)
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Journal Article
Evaluation of Anticoagulant Monitoring in Pediatric Patients Receiving Enoxaparin for Treatment of Venous Thrombosis
Koury, Jason, Hellinga, Robert, Rose, Jennifer, Abraham, Shirley, Subbaswamy, Anjali
Published in The journal of pediatric pharmacology and therapeutics (2021)
Published in The journal of pediatric pharmacology and therapeutics (2021)
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Journal Article
Congenital and Childhood myeloproliferative disorders with eosinophilia responsive to imatinib
Abraham, Shirley, Salama, Mohamed, Hancock, Jeffrey, Jacobsen, Jeffrey, Fluchel, Mark
Published in Pediatric blood & cancer (01.11.2012)
Published in Pediatric blood & cancer (01.11.2012)
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Journal Article
Myeloid Neoplasm with PDGFRB Translocation, t(1;5)(q21;q33): A Congenital Presentation of An Imatinib Responsive Congenital JMML with Eosinophilia
Abraham, Shirley M., Salama, Mohamed E., Jacobsen, Jeffrey R., Hancock, Jeffrey, Fluchel, Mark
Published in Blood (19.11.2010)
Published in Blood (19.11.2010)
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