Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A., Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H., Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark H., Byers, Peter H. H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023

Genome-wide Analysis of Motor Progression in Parkinson Disease

por Martínez Carrasco, Alejandro, Real, Raquel, Lawton, Michael, Hertfelder Reynolds, Regina, Tan, Manuela, Wu, Lesley, Williams, Nigel, Carroll, Camille, Corvol, Jean-Christophe, Hu, Michele, Grosset, Donald, Hardy, John, Ryten, Mina, Ben-Shlomo, Yoav, Shoai, Maryam, Morris, Huw R.
Publicado 2023

Examining the Healthcare and Economic Burden of Gun Violence in a Major US Metropolitan City

por Silver, Julia H., Ramos, Tolulope A., Stamm, Michaela A., Gladden, Paul B., Martin, Murphy P., Mulcahey, Mary K.
Publicado 2023

Sublaminar Band Fixation Provides Excellent Anchors for MAGEC Rod Distraction Systems

por Rosenfeld, Samuel R., Weber, Matthew, Thomas, Evelyn S., Barger, Kurt M.
Publicado 2023

A Case of Familial Appendiceal Neuroendocrine Tumor

por Ghattas, Souad, Hadeer, Ribal Aby, Maalouf, Hani, Al Bitar, Jad, Younes, Ahmad, Rahban, Hind, El Rassi, Ziad
Publicado 2023

Variable Intrafamilial Expression of ABCB4 Disease

por Zampaglione, Lucia, Rougemont, Anne-Laure, Rubbia-Brandt, Laura, Abramowicz, Marc, Guipponi, Michel, Marchionni, Enrica, Valerie, McLin, Goossens, Nicolas
Publicado 2023

A Variation on a Rare Diagnosis: Rectosigmoid Endometriosis

por Engman, Samuel, Puello, Frances, Labowitz, David A., Ha Lan, Thanh Thien
Publicado 2023

Schistosomiasis: An Unexpected Cause of Gastrointestinal Bleeding Revealed by Endoscopic Biopsy

por Lee, Hwewon E., Abrol, Robinder, Humphrey, Kyle, Qiu, Suimin, McLellan, Susan, Merwat, Sheharyar K.
Publicado 2023

Ischemic Colitis Due to Idiopathic Myointimal Hyperplasia of the Mesenteric Veins

por Noujaim, Michael G., Tang, Helen, Kalisz, Kevin, Iranzad, Natasha, Wild, Daniel
Publicado 2023

Gas Embolism After a Patient's Ninth ERCP Procedure

por Ahmad, Helal Said, Cohen, Sari Anne, Khoury, Tawfik, Tome, Riad, Zeibak, Haitam, Abboud, Wisam, Mari, Amir
Publicado 2023

The Incidence of Posttraumatic Stress Symptoms in Children

por May, Collin, Miller, Patricia E., Naqvi, Manahill, Rademacher, Emily, Klajn, Justyna, Hedequist, Daniel, Shore, Benjamin J.
Publicado 2023

Gastrointestinal Stromal Tumor Presenting as Food Impaction and Pseudo-Achalasia

por Obri, Mark S., Nimri, Faisal, Kamran, Wasih, Nimri, Rund, Pompa, Robert, Zuchelli, Tobias
Publicado 2023

Immune Checkpoint Inhibitor-Induced Hemorrhagic Gastritis

por Mathialagan, Karthik, Tai, Cheng-Hung, Sethi, Samdish, Thomas, Sumi, Loeser, Caroline
Publicado 2023

Perineurioma Diagnosed After Endoscopic Treatment of Suspected Gastric Adenocarcinoma of the Fundic Gland

por Yokosuka, Ryohsuke, Ikeya, Takashi, Yamato, Hiroshi, Kanomata, Naoki, Fukuda, Katsuyuki
Publicado 2023

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

por Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-Ávila, Marta, Chou, Tsui-Fen, Li, Shan, Wang, Feng, Daw, Jil, Stojkovic, Tanya, Villar-Quiles, Rocio, Nishino, Ichizo, Inoue, Michio, Nishimori, Yukako, Saito, Yoshihiko, Katsuno, Masahisa, Noda, Seiya, Ito, Chihiro, Otsuka, Mieko, Nahir, Sruthi, Manousakis, Georgios, Walk, David, Quinn, Colin, Alfano, Lindsay, Sahenk, Zarife, Tasca, Giorgio, Monforte, Mauro, Sabatelli, Mario, Bisogni, Giulia, Oldfors, Anders, Rydeliu, Anna, Pal, Endre, Paradas, Carmen, Velez, Beatriz, De Bleecker, Jan L., Farugia, Maria Elena, Longman, Cheryl, Harms, Matthew B., Ralston, Stuart, Zanoteli, Edmar, Macedo Serafim da Silva, Andre, Sotoca, Javier, Juntas-Morales, Raul, Bevilacqua, Jorge, Balart, Mireya, Talbot, Stuart, Straub, Volker, Guglieri, Michela, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Weihl, Conrad Chris
Publicado 2023

Vascular Injury After Scoliosis Correction in Ehlers-Danlos Syndrome: Proceed With Caution

por Prabhakar, Gautham, Gonuguntla, Rishi K., Momtaz, David, Chaput, Christopher, Hogue, Grant D.
Publicado 2023

Cannabis Improves Clinical Outcomes and Quality of Life in Patients With Chronic Pouchitis

por Naftali, Timna, Bar-Lev Schleider, Lihi, Kayless, Hen, Bromberg, Zohar, Dotan, Iris, Broide, Efrat
Publicado 2023

Transcatheter Aortic Valve Replacement Restoring Candidacy for Liver Transplant in Patients With Cirrhosis

por Kaafarani, Mirna, Shamma, Omar, Jafri, Syed-Mohammed
Publicado 2023

Colorectal Signet Ring Cell Carcinoma Presenting as Ulcerating Rectosigmoid Stricture

por Chen, Bing, Liu, Bolun, Yuan, Zhiming, Sun, Katherine, Chung, Howard, Zheng, Beishi, Cordeiro, Christopher, Virmani, Chetan, Shapsis, Alexander
Publicado 2023

Fulminant Presentation of Budd-Chiari Syndrome Secondary to COVID-19 Infection

por Sanekommu, Harshavardhan, Taj, Sobaan, Kilada, Catherine, Ravilla, Jayasree, Ramirez, Claudia, Gonzalez, Paula Espinosa, Imburgio, Steven, Johal, Anmol, Sun, Xiu, Shah, Pranav N., Hossain, Mohammad
Publicado 2023