A Pediatric Genetic Disorder Diagnosed in Adulthood

por Church, Joseph A
Publicado 2006

A Child with X-Linked Agammaglobulinemia and Enthesitis-Related Arthritis

por Sukumaran, Sukesh, Marzan, Katherine, Shaham, Bracha, Church, Joseph A.
Publicado 2011

The WHO Green Page – Assessment of the Environmental Health Risks in Children

por Kurpas, Donata, Church, Joseph, Mroczek, Bożena, Hans-Wytrychowska, Anna, Rudkowski, Zbigniew
Publicado 2013

EUS-guided cholecystogastrostomy for acute cholecystitis in a patient with an omphalocele

por Farida, Jeremy P., Church, Joseph T., Patel, Arpan, Young, Bree Ann, Cho, Cliff, Law, Ryan
Publicado 2020

Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease

por Reiff, Andreas, Bassuk, Alexander G., Church, Joseph A., Campbell, Elizabeth, Bing, Xinyu, Ferguson, Polly J.
Publicado 2013

LRP5 and LRP6 Are Not Required for Protective Antigen–Mediated Internalization or Lethality of Anthrax Lethal Toxin

por Young, John J, Bromberg-White, Jennifer L, Zylstra, Cassandra, Church, Joseph T, Boguslawski, Elissa, Resau, James H, Williams, Bart O, Duesbery, Nicholas S
Publicado 2007

Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms

por Azizi, Latifeh, Varela, Lorena, Turkki, Paula, Mykuliak, Vasyl V, Korpela, Sanna, Ihalainen, Teemu O, Church, Joseph, Hytönen, Vesa P, Goult, Benjamin T
Publicado 2022

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

por El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai
Publicado 2015

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

por Patel, Jay P., Puck, Jennifer M., Srinivasan, Rajgopal, Brown, Christina, Sunderam, Uma, Kundu, Kunal, Brenner, Steven E., Gatti, Richard A., Church, Joseph A.
Publicado 2015

Regional brain gray and white matter changes in perinatally HIV-infected adolescents()

por Sarma, Manoj K., Nagarajan, Rajakumar, Keller, Margaret A., Kumar, Rajesh, Nielsen-Saines, Karin, Michalik, David E., Deville, Jaime, Church, Joseph A., Thomas, M. Albert
Publicado 2013

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

por Mallott, Jacob, Kwan, Antonia, Church, Joseph, Gonzalez-Espinosa, Diana, Lorey, Fred, Tang, Ling Fung, Sunderam, Uma, Rana, Sadhna, Srinivasan, Rajgopal, Brenner, Steven E., Puck, Jennifer
Publicado 2012

Pilot Assessment of Brain Metabolism in Perinatally HIV-Infected Youths Using Accelerated 5D Echo Planar J-Resolved Spectroscopic Imaging

por Iqbal, Zohaib, Wilson, Neil E., Keller, Margaret A., Michalik, David E., Church, Joseph A., Nielsen-Saines, Karin, Deville, Jaime, Souza, Raissa, Brecht, Mary-Lynn, Thomas, M. Albert
Publicado 2016

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

por Keller, Michael D., Petersen, Maureen, Ong, Peck, Church, Joseph, Risma, Kimberly, Burham, Jon, Jain, Ashish, Stiehm, E. Richard, Hanson, Eric P., Uzel, Gulbu, Deardorff, Matthew A., Orange, Jordan S.
Publicado 2011

Safety, Efficacy and Pharmacokinetics of a New 10% Liquid Intravenous Immunoglobulin (IVIG) in Patients with Primary Immunodeficiency

por Wasserman, Richard L., Church, Joseph A., Stein, Mark, Moy, James, White, Martha, Strausbaugh, Steven, Schroeder, Harry, Ballow, Mark, Harris, James, Melamed, Isaac, Elkayam, David, Lumry, William, Suez, Daniel, Rehman, Syed M.
Publicado 2012

Bubble bilevel ventilation facilitates gas exchange in anesthetized rabbits

por John, Stephen C., Mohammed, Azmath, Church, Joseph T., John, Anna V., Perkins, Elena M., McLeod, Jennifer S., Carr, Benjamin D., Smith, Sue, Barnett, J. Hudson, Gustafson, Peter A., Dick, Macdonald, John, Sunil P.
Publicado 2020

BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children

por Kriván, Gergely, Borte, Michael, Soler-Palacin, Pere, Church, Joseph A., Csurke, Ildiko, Harris, James B., Lieberman, Jay A., Melamed, Isaac R., Moy, James N., Simon, Reka, Aigner, Silke, Lentze, Stephan, Staiger, Christiane
Publicado 2022

White matter of perinatally HIV infected older youths shows low frequency fluctuations that may reflect glial cycling

por Sarma, Manoj K., Pal, Amrita, Keller, Margaret A., Welikson, Tamara, Ventura, Joseph, Michalik, David E., Nielsen-Saines, Karin, Deville, Jaime, Kovacs, Andrea, Operskalski, Eva, Church, Joseph A., Macey, Paul M., Biswal, Bharat, Thomas, M. Albert
Publicado 2021

Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency

por Wasserman, Richard L., Melamed, Isaac, Stein, Mark R., Engl, Werner, Sharkhawy, Marlies, Leibl, Heinz, Puck, Jennifer, Rubinstein, Arye, Kobrynski, Lisa, Gupta, Sudhir, Grant, Andrew J., Ratnayake, Anoshie, Richmond, Wendell G., Church, Joseph, Yel, Leman, Gelmont, David
Publicado 2016

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

por Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta
Publicado 2017

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

por Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian
Publicado 2021