Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Ataxia and SLC6A1[original query] |
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Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia 2018 1 59 (2): 389-402. Johannesen Katrine M, Gardella Elena, Linnankivi Tarja, Courage Carolina, de Saint Martin Anne, Lehesjoki Anna-Elina, Mignot Cyril, Afenjar Alexandra, Lesca Gaetan, Abi-Warde Marie-Thérèse, Chelly Jamel, Piton Amélie, Merritt J Lawrence, Rodan Lance H, Tan Wen-Hann, Bird Lynne M, Nespeca Mark, Gleeson Joseph G, Yoo Yongjin, Choi Murim, Chae Jong-Hee, Czapansky-Beilman Desiree, Reichert Sara Chadwick, Pendziwiat Manuela, Verhoeven Judith S, Schelhaas Helenius J, Devinsky Orrin, Christensen Jakob, Specchio Nicola, Trivisano Marina, Weber Yvonne G, Nava Caroline, Keren Boris, Doummar Diane, Schaefer Elise, Hopkins Sarah, Dubbs Holly, Shaw Jessica E, Pisani Laura, Myers Candace T, Tang Sha, Tang Shan, Pal Deb K, Millichap John J, Carvill Gemma L, Helbig Kathrine L, Mecarelli Oriano, Striano Pasquale, Helbig Ingo, Rubboli Guido, Mefford Heather C, Møller Rikke |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PloS one 2021 16 (10): e0258766. Aguilera Cinthia, Gabau Elisabeth, Ramirez-Mallafré Ariadna, Brun-Gasca Carme, Dominguez-Carral Jana, Delgadillo Veronica, Laurie Steve, Derdak Sophia, Padilla Natàlia, de la Cruz Xavier, Capdevila Núria, Spataro Nino, Baena Neus, Guitart Miriam, Ruiz An |
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