Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors by Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome by Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations by Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

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P2.13 Further characterization of the clinical and mutational spectrum of alpha-dystroglycanopathy caused by mutations in the LARGE gene by Meilleur, K.G, Medne, L, Hu, Y, Perkins, K, Powell-Hamilton, N, Finkel, R, Scavina, M, Bonnemann, C

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eP302 - MAPRE2-related disorder: expanding the neurodevelopmental phenotype by Powell-Hamilton, Nina N.

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MAPRE2-related disorder: expanding the neurodevelopmental phenotype by Powell-Hamilton, Nina N.

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