Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias
Chen, Rui, PhD, Giliani, Silvia, PhD, Lanzi, Gaetana, PhD, Mias, George I., PhD, Lonardi, Silvia, BS, Dobbs, Kerry, BS, Manis, John, MD, Im, Hogune, PhD, Gallagher, Jennifer E., PhD, Phanstiel, Douglas H., PhD, Euskirchen, Ghia, PhD, Lacroute, Philippe, PhD, Bettinger, Keith, MS, Moratto, Daniele, PhD, Weinacht, Katja, MD, Montin, Davide, MD, Gallo, Eleonora, MD, Mangili, Giovanna, MD, Porta, Fulvio, MD, Notarangelo, Lucia D., MD, Pedretti, Stefania, MD, Al-Herz, Waleed, MD, Alfahdli, Wasmi, MD, Comeau, Anne Marie, PhD, Traister, Russell S., MD, PhD, Pai, Sung-Yun, MD, Carella, Graziella, PhD, Facchetti, Fabio, MD, Nadeau, Kari C., MD, PhD, Snyder, Michael, PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.09.2013)
Published in Journal of allergy and clinical immunology (01.09.2013)
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Journal Article
Identification of an infant with severe combined immunodeficiency by newborn screening
Hale, Jaime E., BS, Bonilla, Francisco A., MD, PhD, Pai, Sung-Yun, MD, Gerstel-Thompson, Jacalyn L., MS, Notarangelo, Luigi D., MD, Eaton, Roger B., PhD, Comeau, Anne Marie, PhD
Published in Journal of allergy and clinical immunology (01.11.2010)
Published in Journal of allergy and clinical immunology (01.11.2010)
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Journal Article
First reported case of Omenn syndrome in a patient with reticular dysgenesis
Henderson, Lauren A., MD, Frugoni, Francesco, PhD, Hopkins, Gregory, BS, Al-Herz, Waleed, MD, Weinacht, Katja, MD, Comeau, Anne Marie, PhD, Bonilla, Francisco A., MD, PhD, Notarangelo, Luigi D., MD, Pai, Sung-Yun, MD
Published in Journal of allergy and clinical immunology (01.04.2013)
Published in Journal of allergy and clinical immunology (01.04.2013)
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Weighing the Evidence for Newborn Screening for Hemoglobin H Disease
Kemper, Alex R., MD, MPH, MS, Knapp, Alixandra A., MS, Metterville, Danielle R., MS, Comeau, Anne Marie, PhD, Green, Nancy S., MD, Perrin, James M., MD
Published in The Journal of pediatrics (01.05.2011)
Published in The Journal of pediatrics (01.05.2011)
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