نتائج البحث - Simran Samra

Transcription factor defects in inborn errors of immunity with atopy حسب Maryam Vaseghi-Shanjani, Maryam Vaseghi-Shanjani, Pariya Yousefi, Mehul Sharma, Simran Samra, Simran Samra, Erika Sifuentes, Stuart E. Turvey, Catherine M. Biggs

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STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment حسب 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

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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism حسب 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

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