Search

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.

Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease.

Lawrencia Kimera, Ali Mian, F. Sessions Cole, Hantamalala Ranay Ranaivo, Kathleen Sisco, Margaret Reynolds, Marwan Shinawi, Patricia Dickson, Russell Huang, Sameera Nadimpalli, Sudhi Kurup

Multimodal imaging of an acute presentation of ocular histoplasmosis syndrome in an immunocompetent patient.

Timothy M. Janetos, Anjana Yeldandi, Debra A. Goldstein, Pooja Bhat, Sudhi P. Kurup

Racial and ethnic differences in physical activity among mothers of young children: 2011-2018 NHANES.

Soyang Kwon, Milkie Vu, Nina M. Wetoska, Tami R. Bartell

Association of Pediatric Strabismus and Functional Impairment: A Cross-sectional Nationwide Analysis.

Brian T. Cheng, Anne B. Kim, Sameera Nadimpalli, Stacy L. Pineles, Sudhi P. Kurup

A Pilot Randomized Clinical Trial of Base-in Relieving Prism Spectacle Treatment of Intermittent Exotropia.

The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Alistair T. Pagnamenta, Aboulfazl Rad, Adnan Manzur, Adrian L. Harris, Akiko Hashimoto, Alexandra Y. Kreins, Andrea H. Németh, Andrew O. M. Wilkie, Anna H. Schuh, Archana Ramesh, Arjune Sen, Barbara Vona, Beatriz Diez Dacal, Benito Baños-Piñero, Brian Marsden, Carme Camps, Caroline Scott, Celeste Bento, Charlotte Brasch-Andersen, Chris Pugh, Christian Babbs, Conrad Smith, Craig B. Langman, David Beeson, David L. Bennett, Davide Mei, Deirdre Cilliers, Deirdre Kelly, Dimitrios V. Vavoulis, Dominic Kelly, E. Graham Davies, Edoardo Giacopuzzi, Eduardo Calpena, Edward Blair, Edward Sanders, Elizabeth Ormondroyd, Erika M. Kvikstad, Fatima Dhalla, Georg Hollander, Gerton Lunter, Hana Mlcochova, Helene Dreau, Holger Allroggen, Holger Cario, Holm H. Uhlig, Hugh Watkins, Irene Roberts, Jacqueline Palace, James E. Dunford, Jane Hartley, Jaroslav Zak, Jenny C. Taylor, Jim R. Hughes, Jing Wang, Jing Yu, Joanne Mason, John M. Taylor, Kassim Javaid, Kate E. Lines, Katherine R. Bull, Kyleen D. Schilling, Lilian Bomme Ousager, Lukas Lange, Mark Stevenson, Matteo Ferla, Maureen Kane, Melissa M. Pentony, Mona Hashim, Niko Popitsch, Noémi Roy, Olaf Ansorge, Outi Salminen, Pamela J. Kaisaki, Rajesh V. Thakker, Renzo Guerrini, Reza Maroofian, Richard van Wijk, Ron Schwessinger, Sahar Mansour, Samantha J. L. Knight, Siddharth Banka, Simon J. McGowan, Simon R. Lord, Simone G. Riva, Smita Y. Patel, Stephen R. F. Twigg, Steven Okoli, Steven Wall, Tal Ben-Ami, Tracy Lester, Usha Kini, Valerio Conti, Vassilis Ragoussis, Xin Lu, Yesim Kesim, Yin Dong, Yoshiko Murakami

Blood Pressure Classification Status in Children With CKD Following Adoption of the 2017 American Academy of Pediatrics Guideline.

Derek K. Ng, Alejandro Quiroga, Allison Dart, Amira Al-Uzri, Amy Wilson, Anil Mongia, Anjali Nayak, Arlene Gerson, Asha Moudgil, Bradley Warady, Bradley A. Warady, Caroline Gluck, Carolyn Abitbol, Cheryl Sanchez-Kazi, Chryso Katsoufis, Craig Langman, Craig Wong, Cynthia Pan, Cynthia Wong, Donna Claes, Elaine Ku, Elizabeth Ingulli, Frederick Kaskel, George Schwartz, H. Ann & Robert, Hanan Tawadrous, Hiren Patel, Janice Sullivan, Jeffrey Saland, Joann Carlson, Joseph Flynn, Joseph T. Flynn, Joshua Samuels, Katherine Dell, Kelsey Richardson, Larry Copelovitch, Larry Greenbaum, Liliana Gomez-Mendez, Lyndsay Harshman, Marc Lande, Margaret Murphy, Marissa DeFrietas, Mark Mitsnefes, Martin Turman, Matthew Hand, Megan K. Carroll, Meredith Atkinson, Nancy Rodig, Ora Yadin, Pascale Lane, Patricia Seo-Mayer, Poyyapakkam Srivaths, Rebecca Johnson, Robert Mak, Roberto Jodorkovsky, Rulan Parekh, Sahar Fathallah-Shaykh, Samhar Al-Akash, Samir El-Dahr, Sharon Bartosh, Shlomo Shinnar, Siddharth Shah, Sonia Krishnan, Stacy Drury, Stefan Kiessling, Stephen Hooper, Steve Alexander, Susan Furth, Susan Massengill, Susan L. Furth, Sushil Gupta, Tej Matoo, Tom Blydt-Hansen, Victoria Norwood, Vikas Dharnidharka, Wacharee Seeherunvong, Zubin Modi

Persistent Increase in Serum Ferritin Levels despite Converting to Permanent Vascular Access in Pediatric Hemodialysis Patients: Pediatric Nephrology Research Consortium Study.

Ali Mirza Onder, Ayah Elmaghrabi, Craig B. Langman, Daniel Ranch, Diego Aviles, Eileen Ellis, Fang Deng, H. Stella Shin, Jen-Jar Lin, Jennifer Jetton, Larry Patterson, Lavjay Butani, Lawrence Copelovitch, Maha Haddad, Matthew M. Grinsell, Md Abu Yusuf Ansari, Olivera Marsenic, Paul Brakeman, Raymond Quigley, Rouba Garro, Rupesh Raina, Sahar Fathallah-Shaykh, Vimal Chadha

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to "A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis").

Craig B. Langman

Human ovarian gross morphology and subanatomy across puberty: insights from tissue donated during fertility preservation.

Elizabeth L. Tsui, Courtney J. Harris, Erin E. Rowell, Monica M. Laronda