Defining the phenotypic spectrum of SLC6A1 mutations

Katrine M. Johannesen, Elena Gardella*, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim ChoiJong Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S. Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E. Shaw, Laura Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, John J. Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C Mefford, Rikke S. Møller

*Corresponding author af dette arbejde
33 Citationer (Scopus)

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Medicin og biovidenskab