Risultati della ricerca - LaCroix, Amy
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome di LaCroix, Amy J., Stabley, Deborah, Sahraoui, Rebecca, Adam, Margaret P., Mehaffey, Michele, Kernan, Kelly, Myers, Candace T., Fagerstrom, Carrie, Anadiotis, George, Akkari, Yassmine M., Robbins, Katherine M., Gripp, Karen W., Baratela, Wagner A.R., Bober, Michael B., Duker, Angela L., Doherty, Dan, Dempsey, Jennifer C., Miller, Daniel G., Kircher, Martin, Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Sol-Church, Katia
Pubblicazione 2019testo -
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants di Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Pubblicazione 2018testo -
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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants di Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Pubblicazione 2018testo -
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects di Platzer, Konrad, Yuan, Hongjie, Schütz, Hannah, Winschel, Alexander, Chen, Wenjuan, Hu, Chun, Kusumoto, Hirofumi, Heyne, Henrike O, Helbig, Katherine L, Tang, Sha, Willing, Marcia C, Tinkle, Brad T, Adams, Darius J, Depienne, Christel, Keren, Boris, Mignot, Cyril, Frengen, Eirik, Strømme, Petter, Biskup, Saskia, Döcker, Dennis, Strom, Tim M, Mefford, Heather C, Myers, Candace T, Muir, Alison M, LaCroix, Amy, Sadleir, Lynette, Scheffer, Ingrid E, Brilstra, Eva, van Haelst, Mieke M, van der Smagt, Jasper J, Bok, Levinus A, Møller, Rikke S, Jensen, Uffe B, Millichap, John J, Berg, Anne T, Goldberg, Ethan M, De Bie, Isabelle, Fox, Stephanie, Major, Philippe, Jones, Julie R, Zackai, Elaine H, Jamra, Rami Abou, Rolfs, Arndt, Leventer, Richard J, Lawson, John A, Roscioli, Tony, Jansen, Floor E, Ranza, Emmanuelle, Korff, Christian M, Lehesjoki, Anna-Elina, Courage, Carolina, Linnankivi, Tarja, Smith, Douglas R, Stanley, Christine, Mintz, Mark, McKnight, Dianalee, Decker, Amy, Tan, Wen-Hann, Tarnopolsky, Mark A, Brady, Lauren I, Wolff, Markus, Dondit, Lutz, Pedro, Helio F, Parisotto, Sarah E, Jones, Kelly L, Patel, Anup D, Franz, David N, Vanzo, Rena, Marco, Elysa, Ranells, Judith D, Di Donato, Nataliya, Dobyns, William B, Laube, Bodo, Traynelis, Stephen F, Lemke, Johannes R
Pubblicazione 2017testo