Resultados da busca - Pappas, John

Direct 3D Printing of Silica Doped Transparent Magnesium Aluminate Spinel Ceramics por Pappas, John M., Dong, Xiangyang

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Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor por Brar, Preneet Cheema, Dingle, Elena, Pappas, John, Raisingani, Manish

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Comparing Characteristics of Patients Who Connect Their iPhones to an Electronic Health Records System Versus Patients Who Connect Without Personal Devices: Cohort Study por Gordon, William J, Bates, David W, Fuchs, Daniel, Pappas, John, Silacci, Sara, Landman, Adam

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Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia por Verma, Sourabh, Purrier, Sheryl, Breidbart, Emily, Pappas, John G., Mally, Pradeep V., Randis, Tara M.

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Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis por Chorin, Odelia, Yachelevich, Naomi, Mohamed, Khaled, Moscatelli, Ilana, Pappas, John, Henriksen, Kim, Evrony, Gilad D.

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Kufor‐Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese‐American Brothers por Noch, Evan, Henchcliffe, Claire, Hellmers, Natalie, Chu, Mary Lynn, Pappas, John, Moran, Ellen, Alcaraz, Wendy, Sarva, Harini

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Designing Enterprise-wide Tools to Improve User Accountability for Protected Health Information: a Pilot Study por Wald, Jonathan S., Gallagher, Joan, Rubalcaba, Pat, Pappas, John J., Mikels, Debra A., Grant, Karen G., Millar, Sally, Spurr, Cynthia

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Mobile Technology in a Clinical Setting por Holleran, Kara, Pappas, John, Lou, Hong, Rubalcaba, Pat, Lee, Rita, Clay, Steve, Cutone, Janice, Flammini, Steve, Kuperman, Gil, Middleton, Blackford

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Nitroglycerin 0.4% ointment vs placebo in the treatment of pain resulting from chronic anal fissure: a randomized, double-blind, placebo-controlled study por Berry, Scott M, Barish, Charles F, Bhandari, Raj, Clark, Gemma, Collins, Gregory V, Howell, Julian, Pappas, John E, Riff, Dennis S, Safdi, Michael, Yellowlees, Ann

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Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia por Boyden, Lynn M., Atzmony, Lihi, Hamilton, Claire, Zhou, Jing, Lim, Young H., Hu, Ronghua, Pappas, John, Rabin, Rachel, Ekstien, Joseph, Hirsch, Yoel, Prendiville, Julie, Lifton, Richard P., Ferguson, Shawn, Choate, Keith A.

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MXene–Graphene Field-Effect Transistor Sensing of Influenza Virus and SARS-CoV-2 por Li, Yanxiao, Peng, Zhekun, Holl, Natalie J., Hassan, Md. Rifat, Pappas, John M., Wei, Congjie, Izadi, Omid Hoseini, Wang, Yang, Dong, Xiangyang, Wang, Cheng, Huang, Yue-Wern, Kim, DongHyun, Wu, Chenglin

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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca(2+) regulation por Halvorsen, Matthew, Gould, Laura, Wang, Xiaohan, Grant, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J., Tester, David J., Lin, Peter T., Pappas, John G., Maurano, Matthew T., Goldstein, David B., Tsien, Richard W., Devinsky, Orrin

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Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology a... por Kaddi, Chanchala D., Niesner, Bradley, Baek, Rena, Jasper, Paul, Pappas, John, Tolsma, John, Li, Jing, van Rijn, Zachary, Tao, Mengdi, Ortemann‐Renon, Catherine, Easton, Rachael, Tan, Sharon, Puga, Ana Cristina, Schuchman, Edward H., Barrett, Jeffrey S., Azer, Karim

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In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene por Peter, Cyril J., Saito, Atsushi, Hasegawa, Yuto, Tanaka, Yuya, Nagpal, Mohika, Perez, Gabriel, Alway, Emily, Espeso-Gil, Sergio, Fayyad, Tariq, Ratner, Chana, Dincer, Aslihan, Gupta, Achla, Devi, Lakshmi, Pappas, John G., Lalonde, François M., Butman, John A., Han, Joan C., Akbarian, Schahram, Kamiya, Atsushi

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Expansion of phenotype and genotypic data in CRB2-related syndrome por Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy por Esmaeeli Nieh, Sahar, Madou, Maura R Z, Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E, Smaoui, Nizar, Pappas, John G, Burrow, Thomas A, McDonald, Marie T, Latibashvili, Mariam, Leshinsky-Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D, Barkovich, Anthony James, Sherr, Elliott H

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 por Chao, Hsiao-Tuan, Davids, Mariska, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Davis, Taylor, Wolfe, Lynne, Toro, Camilo, Tifft, Cynthia, Xia, Fan, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Yamamoto, Shinya, Adams, David R., Markello, Thomas C., Gahl, William A., Bellen, Hugo J., Wangler, Michael F., Malicdan, May Christine V.

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB por Bicknell, Louise S, Farrington‐Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al‐Madani, Navid, Firth, Helen, Karimi‐Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean‐Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing por Hirsch, Yoel, Tangshewinsirikul, Chayada, Booth, Kevin T., Azaiez, Hela, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Brownstein, Zippora, Macarov, Michal, Davidov, Bella, Pappas, John, Rabin, Rachel, Kenna, Margaret A., Oza, Andrea M., Lafferty, Katherine, Amr, Sami S., Rehm, Heidi L., Kolbe, Diana L., Frees, Kathy, Nishimura, Carla, Luo, Minjie, Farra, Chantal, Morton, Cynthia C., Scher, Sholem Y., Ekstein, Josef, Avraham, Karen B., Smith, Richard J. H., Shen, Jun

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Genotype–phenotype correlations in individuals with pathogenic RERE variants por Jordan, Valerie K., Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J., Balci, Tugce B., Carter, Melissa T., Bernat, John A., Moccia, Amanda N., Srivastava, Anshika, Martin, Donna M., Bielas, Stephanie L., Pappas, John, Svoboda, Melissa D., Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M., Scaglia, Fernando, Kohler, Jennefer N., Bernstein, Jonathan A., Dries, Annika M., Rosenfeld, Jill A., DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H., Bi, Weimin, Scott, Daryl A.

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