検索結果 - Theos, Amy

Neurofibromatosis type 1 著者: Boyd, Kevin P., Korf, Bruce R., Theos, Amy

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Phenotypic Variability Among Café-au-lait Macules in NF1 著者: Boyd, Kevin P., Gao, Liyan, Feng, Rui, Beasley, Mark, Messiaen, Ludwine, Korf, Bruce R., Theos, Amy

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Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study 著者: Cannon, Ashley, Chen, Mei-Jan, Li, Peng, Boyd, Kevin P., Theos, Amy, Redden, David T., Korf, Bruce

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Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames 著者: Cunha, Karin SG, Rozza-de-Menezes, Rafaela E, Andrade, Raquel M, Theos, Amy, Luiz, Ronir R, Korf, Bruce, Geller, Mauro

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Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis 著者: Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Akkaya, Deniz A., Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A.

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More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations 著者: Lilly, Evelyn, Bunick, Christopher G., Maley, Alexander M., Zhang, Shali, Spraker, Mary K, Theos, Amy J, Vivar, Karina L, Seminario-Vidal, Lucia, Bennett, Adam E, Sidbury, Robert, Ogawa, Yasushi, Akiyama, Masashi, Binder, Barbara, Hadj-Rabia, Smail, Morotti, Raffaella A., Glusac, Earl J., Choate, Keith A., Richard, Gabriele, Milstone, Leonard M

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Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity 著者: Perelygina, Ludmila, Faisthalab, Raeesa, Abernathy, Emily, Chen, Min-hsin, Hao, LiJuan, Bercovitch, Lionel, Bayer, Diana K., Noroski, Lenora M., Lam, Michael T., Cicalese, Maria Pia, Al-Herz, Waleed, Nanda, Arti, Hajjar, Joud, Vanden Driessche, Koen, Schroven, Shari, Leysen, Julie, Rosenbach, Misha, Peters, Philipp, Raedler, Johannes, Albert, Michael H., Abraham, Roshini S., Rangarjan, Hemalatha G., Buchbinder, David, Kobrynski, Lisa, Pham-Huy, Anne, Dhossche, Julie, Cunningham Rundles, Charlotte, Meyer, Anna K., Theos, Amy, Atkinson, T. Prescott, Musiek, Amy, Adeli, Mehdi, Derichs, Ute, Walz, Christoph, Krüger, Renate, von Bernuth, Horst, Klein, Christoph, Icenogle, Joseph, Hauck, Fabian, Sullivan, Kathleen E.

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Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease. 著者: Dorjbal, Batsukh, Stinson, Jeffrey R., Ma, Chi A., Weinreich, Michael A., Miraghazadeh, Bahar, Hartberger, Julia M., Frey-Jakobs, Stefanie, Weidinger, Stephan, Moebus, Lena, Franke, Andre, Schäffer, Alejandro A., Bulashevska, Alla, Fuchs, Sebastian, Ehl, Stephan, Limaye, Sandhya, Arkwright, Peter D., Briggs, Tracy A., Langley, Claire, Bethune, Claire, Whyte, Andrew F., Alachkar, Hana, Nejentsev, Sergey, DiMaggio, Thomas, Nelson, Celeste G., Stone, Kelly D., Nason, Martha, Brittain, Erica H., Oler, Andrew J., Veltri, Daniel P., Leahy, T. Ronan, Conlon, Niall, Poli, Maria C., Borzutzky, Arturo, Cohen, Jeffrey I., Davis, Joie, Lambert, Michele P., Romberg, Neil, Sullivan, Kathleen E., Paris, Kenneth, Freeman, Alexandra F., Lucas, Laura, Chandrakasan, Shanmuganathan, Savic, Sinisa, Hambleton, Sophie, Patel, Smita Y, Jordan, Michael B., Theos, Amy, Lebensburger, Jeffrey, Atkinson, T. Prescott, Torgerson, Troy R., Chinn, Ivan K., Milner, Joshua D., Grimbacher, Bodo, Cook, Matthew C., Snow, Andrew L.

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 著者: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

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