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Showing 5005 - 5016 of 12039 results
Publication

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

Tetsuya Niihori, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, Hirotaka Kihara, Thomas Arbogast, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Taiki Abe, Shin-Ichi Inoue, I-Chun Tsai, Naomichi Matsumoto, Erica E Davis, Nicholas Katsanis, Yoko Aoki

Publication

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Muhammad Ansar, Farid Ullah, Sohail A Paracha, Darius J Adams, Abbe Lai, Lynn Pais, Justyna Iwaszkiewicz, Francisca Millan, Muhammad T Sarwar, Zehra Agha, Sayyed Fahim Shah, Azhar Ali Qaisar, Emilie Falconnet, Vincent Zoete, Emmanuelle Ranza, Periklis Makrythanasis, Federico A Santoni, Jawad Ahmed, Nicholas Katsanis, Christopher Walsh, Erica E Davis, Stylianos E Antonarakis

Publication

RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes

Joseph L Bundy, Blair R Anderson, Ludmila Francescatto, Melanie E Garrett, Karen L Soldano, Marilyn J Telen, Erica E Davis, Allison E Ashley-Koch

Publication

Low-Value Diagnostic Imaging Use in the Pediatric Emergency Department in the United States and Canada.

Eyal Cohen, Jonathan Rodean, Christina Diong, Matt Hall, Stephen B Freedman, Paul L Aronson, Harold K Simon, Jennifer R Marin, Margaret Samuels-Kalow, Elizabeth R Alpern, Rustin B Morse, Samir S Shah, Alon Peltz, Mark I Neuman

Publication

Electroencephalographic Reporting for Refractory Status Epilepticus.

Arnold J Sansevere, Ravindra Arya, Iván Sánchez Fernández, William D Gaillard, Robert C Tasker, Yi-Chen Lai, Anne E Anderson, Dmitry Tchapyjnikov, Kevin E Chapman, J Nicholas Brenton, Jessica L Carpenter, Marina Gaínza-Lein, Joshua L Goldstein, Howard P Goodkin, Michele C Jackson, Kush Kapur, Mohamad A Mikati, Katrina Peariso, Tracy A Glauser, Alexis A Topjian, Mark Wainwright, Angus A Wilfong, Korwyn L Williams, Tobias Loddenkemper, Nicholas S Abend

Publication

Disrupted Maturation of the Microbiota and Metabolome among Extremely Preterm Infants with Postnatal Growth Failure.

Noelle E Younge, Christopher B Newgard, C Michael Cotten, Ronald N Goldberg, Michael J Muehlbauer, James R Bain, Robert D Stevens, Thomas M O'Connell, John F Rawls, Patrick C Seed, Patricia L Ashley

Publication

Sialic acid–binding immunoglobulin-like lectin (Siglec) 8 in patients with eosinophilic disorders: Receptor expression and targeting using chimeric antibodies

Fanny Legrand, Yun Cao, Joshua B Wechsler, Xiang Zhu, Nives Zimmermann, Shakuntala Rampertaap, Joseph Monsale, Kimberly Romito, Bradford A Youngblood, Emily C Brock, Michelle A Makiya, Nenad Tomasevic, Christopher Bebbington, Irina Maric, Dean D Metcalfe, Bruce S Bochner, Amy D Klion

Publication

PICU-Based Rehabilitation and Outcomes Assessment: A Survey of Pediatric Critical Care Physicians.

Amery Treble-Barna, Sue R Beers, Amy J Houtrow, Roberto Ortiz-Aguayo, Cynthia Valenta, Meg Stanger, Maddie Chrisman, Maxine Orringer, Craig M Smith, Dorothy Pollon, Mark Duffett, Karen Choong, R Scott Watson, Patrick M Kochanek, Ericka L Fink

Publication

Should we look for Hirschsprung disease in all children with meconium plug syndrome

Christie Buonpane, Timothy B Lautz, Yue-Yung Hu

Publication

Safety and Feasibility of Transcranial Magnetic Stimulation as an Exploratory Assessment of Corticospinal Connectivity in Infants After Perinatal Brain Injury: An Observational Study

Samuel T Nemanich, Chao-Ying Chen, Mo Chen, Elizabeth Zorn, Bryon Mueller, Colleen Peyton, Jed T Elison, James Stinear, Raghu Rao, Michael Georgieff, Jeremiah Menk, Kyle Rudser, Bernadette Gillick

Publication

Psychotic symptoms and suicidal ideation in child and adolescent bipolar I disorder

Mary E Duffy, Anna R Gai, Megan L Rogers, Thomas E Joiner, Joan L Luby, Paramjit T Joshi, Karen D Wagner, Graham J Emslie, John T Walkup, David Axelson