Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Susan Schuval"'
Autor:
Erica G. Schmitt, Mike B. Jordan, Joseph A. Church, Bradly M. Bauman, Lea M. Starita, Jeffrey R. Stinson, Andrew L. Snow, Daniella M. Schwartz, Suzanne Skoda-Smith, Iana Meitlis, Manish J. Butte, Jessica Gray, David Hagin, Christopher R. Luthers, David J. Rawlings, Richard G. James, Troy R. Torgerson, Nathan Camp, Seema S. Aceves, Eric J. Allenspach, Gina Dabbah, Michael J. Bamshad, Isabelle Q. Phan, Ingrid Lundgren, Susan Schuval, Deborah A. Nickerson, Joshua D. Milner, Megan A. Cooper
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, vol 107, iss 6
American journal of human genetics, vol 107, iss 6
Summary Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4293af92352d7c4dda6fec7570f627e3
https://doi.org/10.1016/j.ajhg.2020.10.015
https://doi.org/10.1016/j.ajhg.2020.10.015
Autor:
Jessica Durkee-Shock, Anqing Zhang, Hua Liang, Hannah Wright, Julieann Magnusson, Elizabeth Garabedian, Rebecca A. Marsh, Kathleen E. Sullivan, Michael D. Keller, Jennifer Puck, Elizabeth Secord, Javeed Akhter, Tamara Pozos, Ramsay Fuleihan, Karin Chen, Rebecca Buckley, Niraj Patel, Daniel Suez, Megan Cooper, Manish Butte, Francisco Bonilla, Kelly Walkovich, Elie Haddad, Charlotte Cunningham-Rundles, Gary Kleiner, Hey Chong, Zuhair Ballas, Burcin Uygungil, Vivian Hernandez-Trujillo, Elizabeth A. Secord, Nicholas Hartog, Morna Dorsey, Ralph Shapiro, Susan Schuval, Luigi Notarangelo, John Routes, Adina Knight, Nicholas Bennett, Fatima Khan, Jolan Walter, Christine Seroogy, Hans Ochs, Kathleen Haines, Mica Muskat, Patricia Costa Reis, Laurence Cheng
Publikováno v:
The journal of allergy and clinical immunology. In practice. 10(5)
Optimal management of patients with combined immunodeficiency, especially pertaining to hematopoietic stem cell transplantation (HSCT), remains unclear.To identify factors influencing HSCT and mortality in the population with combined immunodeficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::157e995b2567bbac1fecad0b17d7cf4d
https://pubmed.ncbi.nlm.nih.gov/35172220
https://pubmed.ncbi.nlm.nih.gov/35172220
Publikováno v:
Journal of the Pediatric Infectious Diseases Society. 9(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d52ebd4ca70824d54a98e29fe1d3387
https://pubmed.ncbi.nlm.nih.gov/31967647
https://pubmed.ncbi.nlm.nih.gov/31967647
Autor:
Deborah Boktor, Michelle Tobin, Susan Schuval, Alexandra Guillaume, Héctor E. Alcalá, Michelle Sheyman
Publikováno v:
Journal of Allergy and Clinical Immunology. 147:AB90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccba5896b1cfc146c14cdf0def033d7c
https://doi.org/10.1016/j.jaci.2020.12.345
https://doi.org/10.1016/j.jaci.2020.12.345
Publikováno v:
Journal of Allergy and Clinical Immunology. 145:AB40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c71f2abf50b9d100fd50a9567d15488f
https://doi.org/10.1016/j.jaci.2019.12.751
https://doi.org/10.1016/j.jaci.2019.12.751
Autor:
Rahul Panesar, Sashka Luque, Maribeth Chitkara, Catherine R. Messina, Lindsy Pang, Susan Schuval
Publikováno v:
Journal of Allergy and Clinical Immunology. 143:AB146
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7497b98e7134156ed31fbca9a5e3f50
https://doi.org/10.1016/j.jaci.2018.12.442
https://doi.org/10.1016/j.jaci.2018.12.442
Autor:
Marie Cavuoto Petrizzo, Artemio M. Jongco, Robert Sporter, Myriam Kline, Sheila Bina, Blanka Kaplan, Susan Schuval
Publikováno v:
Journal of Allergy
Physicians underrecognize and undertreat anaphylaxis. Effective interventions are needed to improve physician knowledge and competency regarding evidence-based anaphylaxis diagnosis and management (ADAM). We designed and evaluated an educational prog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208928dda437ce133348a2fe3d5cf22d
Autor:
Susan Schuval
Publikováno v:
Annals of Allergy, Asthma & Immunology. 121:S110
Introduction Patients with splenomegaly and lymphadenopathy are frequently referred to the hematologist. Although splenomegaly may be seen in primary immunodeficiency diseases, it is rarely the presenting symptom. Case Description A 21-year old male
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6881650f623e96c487a05507fab7d46
https://doi.org/10.1016/j.anai.2018.09.362
https://doi.org/10.1016/j.anai.2018.09.362
Publikováno v:
Current Problems in Pediatric and Adolescent Health Care. 38:274-297
Mother-to-child transmission (MTCT) of viral infections causes significant morbidity and mortality among children. Our understanding of the epidemiology, pathogenesis, diagnosis, and prevention of viral infections transmitted from mothers to children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77aa2b3c79a8d6e1105293736021053b
https://doi.org/10.1016/j.cppeds.2008.08.001
https://doi.org/10.1016/j.cppeds.2008.08.001
Publikováno v:
Journal of Allergy and Clinical Immunology. 137:AB231
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4eb7dc457f37911e3062cb9d6d51db99
https://doi.org/10.1016/j.jaci.2015.12.888
https://doi.org/10.1016/j.jaci.2015.12.888