Resultados da busca - Simran Samra

Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants por Julia Körholz, Simran Samra, Mehul Sharma, Kanako Takeuchi, Fumiaki Sakura, Satoshi Okada, Sateesh Maddirevula, Ahmed Alfares, Stuart E. Turvey

Obter o texto integral

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment por Simran Samra, MSc, Eleanor Cook, MBBS, Jessica Wilson, APRN, Mehul Sharma, PhD, Liam Golding, MSc, David T. Yao, BSc, Rebecca A. Marsh, MD, Stuart E. Turvey, MBBS, DPhil

Obter o texto integral

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism por Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P. Modi, Catherine M. Biggs, Cyrus Boelman, Lorne A. Clarke, Anna Lehman, Stuart E. Turvey

Obter o texto integral

Human Germline Biallelic Loss-of-Function OSMR Variants Cause Severe Allergic Disease por Simran Samra, Mehul Sharma, Julia Körholz, Kate L. Del Bel, Yihui Liu, Alyssa E. James, Sergio Rosenzweig, Julie Niemela, P M Prathibha, Oliver Wegehaupt, Sateesh Maddirevula, Siddaramappa J. Patil, Diana K. Bayer, Jonathan J. Lyons, Stuart E. Turvey

Obter o texto integral

Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseHuman biallelic OSMR deficiency por Simran Samra, Mehul Sharma, Julia Körholz, Yihui Liu, Alyssa James, Christina Michalski, Pariya Yousefi, Kate L. Del Bel, Henry Y. Lu, Ashish A. Sharma, Maja Tarailo-Graovac, Joshua Dalmann, Lily Buder, Bhavi Modi, Ralf Wiedemuth, Liam Golding, Britt Drögemöller, Géraldine Blanchard-Rohner, Christof Senger, Wingfield Rehmus, Julie S. Prendiville, Massimo Mangino, Colin J. Ross, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Sergio D. Rosenzweig, Julie Niemela, Pascal M. Lavoie, P. M. Prathibha, Oliver Wegehaupt, Catherine M. Biggs, Michael Boehnke, Leena Kinnunen, Heikki A. Koistinen, Margaret L. McKinnon, Jonas Maximillian Breuer, Jana Schönenkorb, Robert Brock, Sarah Thull, Christian Netzer, Clara Velmans, Norah Altuwaijri, Issam R. Hamadah, Ruqaiah Altassan, Ahmed Alfares, Sateesh Maddirevula, Siddaramappa Jagdish Patil, Diana K. Bayer, Jonathan J. Lyons, Stuart E. Turvey

Obter o texto integral