Effects of Humidity and Solution Viscosity on Electrospun Fiber Morphology von Nezarati, Roya M., Eifert, Michelle B., Cosgriff-Hernandez, Elizabeth

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In situ crosslinking of electrospun gelatin for improved fiber morphology retention and tunable degradation von Kishan, A. P, Nezarati, R. M, Radzicki, C. M, Renfro, A. L, Robinson, J. L, Whitely, M. E, Cosgriff-Hernandez, E. M

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C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients von Alazami, AM, Schneider, SA, Bonneau, D, Pasquier, L, Carecchio, M, Kojovic, M, Steindl, K, De Kerdanet, M, Nezarati, MM, Bhatia, KP, Degos, B, Goh, E, Alkuraya, FS

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Increased LIS1 expression affects human and mouse brain development von Lu, Xin-Yan, Horner, Michele, Day-Salvatore, Debra-Lynn, Sahoo, Trilochan, Withers, Marjorie A, Cheung, Sau Wai, Gunderson, Kevin L, Hunter, Jill V, Sapir, Tamar, Peiffer, Daniel A, Yanagawa, Yuchio, Reiner, Orly, Shchelochkov, Oleg A, Levy, Talia, Lupski, James R, Nezarati, Marjan M, Martinez, Salvador, Savage, Sarah K, Shinder, Vera, Harris, David J, Ann Shotts, Vern, Bi, Weimin, Amato, Stephen S, Beaudet, Arthur L, Zhang, Feng

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FLNA genomic rearrangements cause periventricular nodular heterotopia von CLAPHAM, K. R, YU, T. W, DU SOUICH, C, VAN KARNEBEEK, C, GUERRINI, R, WALSH, C. A, GANESH, V. S, BARRY, B, CHAN, Y, MEI, D, PARRINI, E, FUNALOT, B, DUPUIS, L, NEZARATI, M. M

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Patterning small-molecule biocapture surfaces: microcontact insertion printing vs. photolithography von Shuster, M. J., Vaish, A., Cao, H. H., Guttentag, A. I., McManigle, J. E., Gibb, A. L., Martinez, M. M., Nezarati, R. M., Hinds, J. M., Liao, W.-S., Weiss, P. S., Andrews, A. M.

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Electrospun vascular grafts with improved compliance matching to native vessels von Nezarati, Roya M, Eifert, Michelle B, Dempsey, David K, Cosgriff-Hernandez, Elizabeth

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A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome von Ben‐Omran, Tawfeg I., Cerosaletti, Karen, Concannon, Patrick, Weitzman, Sheila, Nezarati, Marjan M.

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy von de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected p... von Su, Julia X., Velsher, Lea S., Juusola, Jane, Nezarati, Marjan M.

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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pin... von Chitayat, David, Shannon, Patrick, Uster, Tami, Nezarati, Marjan M., Schnur, Rhonda E., Bhoj, Elizabeth J.

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families von AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.

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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes von Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome von White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy von Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs von Saleh, Maha, Miron, Ioana, Al-Rukban, Hadeel, Chitayat, David, Nezarati, Marjan M.

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease von MACIEL, P, GASPAR, C, NEZARATI, M. M, CORWIN, L. I, LOPES-CENDES, I, ROOKE, K, ROSENBERG, R, MACLEOD, P, FARRER, L. A, SEQUEIROS, J, ROULEAU, G. A, DESTEFANO, A. L, SILVEIRA, I, COUTINHO, P, RADVANY, J, DAWSON, D. M, SUDARSKY, L, GUIMARAES, J, LOUREIRO, J. E. L

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants von Girirajan, Santhosh, Rosenfeld, Jill A, Coe, Bradley P, Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A, McConnell, Juliann S, Angle, Brad, Meschino, Wendy S, Nezarati, Marjan M, Asamoah, Alexander, Jackson, Kelly E, Gowans, Gordon C, Martin, Judith A, Carmany, Erin P, Stockton, David W, Schnur, Rhonda E, Penney, Lynette S, Martin, Donna M, Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M, Escobar, Luis F, El-Khechen, Dima, Johnson, Kisha D, Lebel, Robert R, Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K, Spence, J. Edward, Martin, Laura S, Clericuzio, Carol, Ballif, Blake C, Shaffer, Lisa G, Eichler, Evan E

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Correction: In situ crosslinking of electrospun gelatin for improved fiber morphology retention and tunable degradation von Kishan, A. P, Nezarati, R. M, Radzicki, C. M, Renfro, A. L, Robinson, J. L, Whitely, M. E, Cosgriff-Hernandez, E. M

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