Genotype-phenotype analysis of the branchio-oculo-facial syndrome von Milunsky, Jeff M., Maher, Tom M., Zhao, Geping, Wang, Zhenyuan, Mulliken, John B., Chitayat, David, Clemens, Michele, Stalker, Heather J., Bauer, Mislen, Burch, Michele, Chénier, Sébastien, Cunningham, Michael L., Drack, Arlene V., Janssens, Sandra, Karlea, Audrey, Klatt, Regan, Kini, Usha, Klein, Ophir, Lachmeijer, Augusta M., Megarbane, Andre, Mendelsohn, Nancy J., Meschino, Wendy S., Mortier, Geert R., Parkash, Sandhya, Ray, C. Renai, Roberts, Angharad, Roberts, Amy, Reardon, Willie, Schnur, Rhonda E., Smith, Rosemarie, Splitt, Miranda, Tezcan, Kamer, Whiteford, Margo L., Wong, Derek A., Zori, Roberto, Lin, Angela E.

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Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies von Török, Ferenc, Tezcan, Kamer, Filippini, Ludovica, Fernández-Quintero, Monica L, Zanetti, Lucia, Liedl, Klaus R, Drexel, Raphaela S, Striessnig, Jörg, Ortner, Nadine J

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling von Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency von Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange-Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean-Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin-Robinet, Christel, Zweier, Christiane

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OA1 Mutations and Deletions in X-Linked Ocular Albinism von Schnur, Rhonda E., Gao, Mei, Wick, Penelope A., Keller, Margaret, Benke, Paul J., Edwards, Matthew J., Grix, Arthur W., Hockey, Athel, Jung, Jack H., Kidd, Kenneth K., Kistenmacher, Mildred, Levin, Alex V., Lewis, Richard A., Musarella, Maria A., Nowakowski, Rod W., Orlow, Seth J., Pagon, Roberta S., Pillers, De-Ann M., Punnett, Hope H., Quinn, Graham E., Tezcan, Kamer, Wagstaff, Joseph, Weleber, Richard G.

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Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling von Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, de Villemeur, Thierry Billette, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., den Hollander, Nicolette, Hoffer, Mariëtte J V, Reijnders, Margot R.F., Demirda, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Tezcan, Kamer, Schaefer, G. B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske

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Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications von Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan-Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Himes, Patricia, Kostiner, Dana, Zand, Dina J., Stalker, Heather, Driscoll, Daniel J., Huang, Taosheng, Rosenfeld, Jill A., Li, Xu, Chen, Emily

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Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications von Tezcan, Kamer, Louie, Kristal T., Qu, Yong, Velasquez, Jorge, Zaldivar, Frank, Rioseco-Camacho, Natalia, Camacho, José Angel

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Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap von Harvey Mudd, S, Braverman, Nancy, Pomper, Martin, Tezcan, Kamer, Kronick, Jonathan, Jayakar, Parul, Garganta, Cheryl, Ampola, Mary G, Levy, Harvey L, McCandless, Shawn E, Wiltse, Hobart, Stabler, Sally P, Allen, Robert H, Wagner, Conrad, Borschel, Marlene W

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MO-0719 Adult Intracranial Ependymal Tumors: Results of TROD Neurooncology Group 07-009 Study von Aytac Arslan, S., Guney, Y., Erpolat, P., Kamer, S., Erciş, E., Tezcan, Y., Akgun, Z., Atalar, B., Karacetin, D., Guler, G.

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Threshold Cryptography Based on Asmuth-Bloom Secret Sharing von Kaya, Kamer, Selçuk, Ali Aydın, Tezcan, Zahir

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