Neurofibromatosis Type 1: Review and Update on Emerging Therapies von Karaconji, Tanya, Whist, Eline, Jamieson, Robyn V, Flaherty, Maree P, Grigg, John R B

Volltext

Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata von Flaherty, Maree P., Balachandran, Chandra, Jamieson, Robyn, Engle, Elizabeth C.

Volltext

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia von Flaherty, Maree P, Grattan-Smith, Padraic, Steinberg, Adam, Jamieson, Robyn, Engle, Elizabeth C

Volltext

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders von Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Matos Ruiz, Paola M., England, Eleina M., Pais, Lynn, Groopman, Emily, Russell, Kathryn A., Di Gioia, Silvio Alessandro, Lee, Arthur S., Shaaban, Sherin, Bekele, Sarah, Toffoloni, Melissa, Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Lee Dahm, Thomas, David, Karen L., De Berardinis, Teresa, Demer, Joseph L., Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Gerth-Kahlert, Christina, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Holder, Christopher, Iannaccone, Alessandro, Isenberg, Sherwin J., Kahana, Alon, Kazlas, Melanie, Kerr, Natalie C., Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Mackey, David A., Mantagos, Iason S., Marti, Candice, Menezes, Manoj P., Mikail, Claudia N., Miller, Kathryn Bisceglia, Miyana, Kaori, Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pavone, Piero, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Thomas, Ioan Talfryn, VanderVeen, Deborah K., Vincent, Andrea L., Wabbels, Bettina, Wong, Agnes M.F., Wu, Carolyn, Yeung, Alison, Young, Terri L., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., Robson, Caroline D., Engle, Elizabeth C.

Volltext

Axenfeld anomaly in association with hypomelanosis of Ito von Flaherty, Maree P., Padilla, Carmencita D., Sillence, David O.

Volltext

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation von CEDERQUIST, Gustav Y, LUCHNIAK, Anna, GOMES, Lavier, FLAHERTY, Maree, GRANT, Patricia Ellen, GUPTA, Mohan L, ENGLE, Elizabeth C, TISCHFIELD, Max A, PEEVA, Maya, YUYU SONG, MENEZES, Manoj P, CHAN, Wai-Man, ANDREWS, Caroline, CHEW, Sheena, JAMIESON, Robyn V

Volltext

Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma von Mihelec, Marija, St Heaps, Luke, Flaherty, Maree, Billson, Frank, Rudduck, Christina, Tam, Patrick P. L., Grigg, John R., Peters, Greg B., Jamieson, Robyn V.

Volltext

Novel SOX2 partner-factor domain mutation in a four-generation family von MIHELEC, Marija, ABRAHAM, Peter, FLAHERTY, Maree, GOLE, Glen A, JAMIESON, Robyn V, GIBSON, Kate, KROWKA, Renata, SUSMAN, Rachel, STOREN, Rebecca, YONGJUAN CHEN, DONALD, Jenny, TAM, Patrick Pl, GRIGG, John R

Volltext

Gillespie syndrome: A report of two further cases von Nelson, John, Flaherty, Maree, Grattan-Smith, Padraic

Volltext