Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

por Robak, Laurie A., Du, Renqian, Yuan, Bo, Gu, Shen, Alfradique-Dunham, Isabel, Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Young, Emily, Zhang, Chaofan, Song, Xiaofei, Du, Haowei, Gambin, Tomasz, Jhangiani, Shalini N., Coban Akdemir, Zeynep, Muzny, Donna M., Tejomurtula, Anusha, Ross, Owen A., Shaw, Chad, Jankovic, Joseph, Bi, Weimin, Posey, Jennifer E., Lupski, James R., Shulman, Joshua M.
Publicado 2020

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

por Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M., McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L., Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad A.
Publicado 2020

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

por Motley, William W., Züchner, Stephan, Scherer, Steven S.
Publicado 2020

Accurate Nonendoscopic Detection of Barrett's Esophagus by Methylated DNA Markers: A Multisite Case Control Study

por Iyer, Prasad G., Taylor, William R., Johnson, Michele L., Lansing, Ramona L., Maixner, Kristyn A., Hemminger, Lois L., Cayer, Frances K., Yab, Tracy C., Devens, Mary E., Slettedahl, Seth W., Broderick, Brendan T., Mahoney, Douglas W., McGlinch, Maria C., Berger, Calise K., Foote, Patrick H., Giakomopoulos, Maria, Allawi, Hatim, Smyrk, Thomas C., Wang, Kenneth K., Katzka, David A., Wolfsen, Herbert C., Burke, James A., Ahlquist, David A., Kisiel, John B.
Publicado 2020

Inequalities in Pediatric Fracture Care Timeline Based on Insurance Type

por Kitchen, Brock T., Ornell, Samuel S., Shah, Kush N., Pipkin, William, Tips, Natalie L., Hogue, Grant D.
Publicado 2020

Overview of Randomized Controlled Trials in Primary Total Hip Arthroplasty (34,020 Patients): What Have We Learnt?

por Matar, Hosam E., Platt, Simon R., Board, Tim N., Porter, Martyn L.
Publicado 2020

Total Hip Arthroplasty Combined With Subtrochanteric Transverse Shortening Osteotomy: Factors Associated With Delayed Union at the Osteotomy Site

por Kawai, Toshiyuki, Goto, Koji, Kuroda, Yutaka, Matsuda, Shuichi
Publicado 2020

Bisphosphonates Versus Denosumab for Prevention of Pathological Fracture in Advanced Cancers With Bone Metastasis: A Meta-analysis of Randomized Controlled Trials

por Al Farii, Humaid, Frazer, Abbey, Farahdel, Leila, AlFayyadh, Faisal, Turcotte, Robert
Publicado 2020

Bilateral Discoid Medial Menisci: A Case Report and Review of the Literature

por Lukas, Kenneth, Livock, Holly, Kontio, Ken, Carsen, Sasha
Publicado 2020

The Effect of an Orthopaedic Surgeon's Attire on Patient Perceptions of Surgeon Traits and Identity: A Cross-Sectional Survey

por Goldstein, Stephanie D., Klosterman, Emma L., Hetzel, Scott J., Grogan, Brian F., Williams, Kathryn L., Guiao, Ronald, Spiker, Andrea M.
Publicado 2020

Endoscopic Ultrasound-Guided Enteroenterostomy for Afferent Limb Syndrome

por El Bacha, Hicham, Leblanc, Sarah, Bordacahar, Benoit, Brieau, Bertrand, Barret, Maximillien, Savier, Eric, Soubrane, Olivier, Dousset, Bertand, Prat, Frederic
Publicado 2020

Acute Severe Liver Injury Related to Long-Term Garcinia cambogia Intake

por Ferreira, Victor, Mathieu, Alexandre, Soucy, Geneviève, Giard, Jeanne-Marie, Erard-Poinsot, Domitille
Publicado 2020

Doxycycline-Induced Autoimmune Hepatitis

por Pan, Jason Jeng, Promrat, Kittichai
Publicado 2020

Postinfectious Autoimmune Hepatitis-Induced Liver Failure: A Consequence of Hepatitis A Virus Infection

por Subramanian, Sruthi Kapliyil, Patel, Jigar M., Younes, Mamoun, Nevah Rubin, Moises I.
Publicado 2020

Abdominal Pain in a Patient With Diverted Bowel and Inflammatory Bowel Disease

por Hasan, Badar, Khalid, Rumman, Charles, Roger, Shen, Bo
Publicado 2020

Safety, Tolerability, and Physiological Effects of AXA1665, a Novel Composition of Amino Acids, in Subjects With Child–Pugh A and B Cirrhosis

por Chakravarthy, Manu V., Neutel, Joel, Confer, Scharmen, Zhao, Peng, Tatsuta, Noriaki, Rebello, Sam, Comb, William C., Hamill, Michael, Tramontin, Tony, Carroll, Sean, Afeyan, Raffi, Sanyal, Arun J.
Publicado 2020

Endoscopic Management of the Ascending Colon Perforation Secondary to a Rare-Earth Magnets Ingestion in a Pediatric Patient

por Camacho-Gomez, Sandra Mabel, Noel, James Meredith, Noel, Robert Adam
Publicado 2020

Cerebral Air Embolism After Endoscopic Variceal Band Ligation

por Azhar, Maria, Upreti, Sunita, Sabath, Bruce F.
Publicado 2020

Repeated Endoscopic Submucosal Dissection for Esophageal Neoplasia Located Close to a Previous Endoscopic Submucosal Dissection Scar

por Nagami, Yasuaki, Ominami, Masaki, Sakai, Taishi, Maruyama, Hirotsugu, Fukunaga, Shusei, Otani, Koji, Hosomi, Shuhei, Tanaka, Fumio, Taira, Koichi, Kamata, Noriko, Tanigawa, Tetsuya, Shiba, Masatsugu, Watanabe, Toshio, Fujiwara, Yasuhiro
Publicado 2020

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

por Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.
Publicado 2020