Subcellular Patterning: Axonal Domains with Specialized Structure and Function von Normand, Elizabeth A., Rasband, Matthew N.

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Temporal and Mosaic Tsc1 Deletion in the Developing Thalamus Disrupts Thalamocortical Circuitry, Neural Function, and Behavior von Normand, Elizabeth A., Crandall, Shane R., Thorn, Catherine A., Murphy, Emily M., Voelcker, Bettina, Browning, Catherine, Machan, Jason T., Moore, Christopher I., Connors, Barry W., Zervas, Mark

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder von Normand, Elizabeth A, Braxton, Alicia, Nassef, Salma, Ward, Patricia A, Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E, Stover, Samantha, Dharmadhikari, Avinash V, Muzny, Donna M, Gibbs, Richard A, Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B, Eng, Christine M, Yang, Yaping

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Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing von Breman, Amy M., Chow, Jennifer C., U'Ren, Lance, Normand, Elizabeth A., Qdaisat, Sadeem, Zhao, Li, Henke, David M., Chen, Rui, Shaw, Chad A., Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H. V., Chang, Elizabeth J., Campton, Daniel, Werbin, Jeffrey L., Seubert, Ron C., Van den Veyver, Ignatia B., Stilwell, Jackie L., Kaldjian, Eric P., Beaudet, Arthur L.

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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women von Kølvraa, Steen, Singh, Ripudaman, Normand, Elizabeth A., Qdaisat, Sadeem, van den Veyver, Ignatia B., Jackson, Laird, Hatt, Lotte, Schelde, Palle, Uldbjerg, Niels, Vestergaard, Else Marie, Zhao, Li, Chen, Rui, Shaw, Chad A., Breman, Amy M., Beaudet, Arthur L.

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Exome and genome sequencing in reproductive medicine von Normand, Elizabeth A., Alaimo, Joseph T., Van den Veyver, Ignatia B.

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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder von Iwata-Otsubo, Aiko, Skraban, Cara M., Yoshimura, Atsunori, Sakata, Toyonori, Alves, Cesar Augusto P., Fiordaliso, Sarah K., Kuroda, Yukiko, Vengoechea, Jaime, Grochowsky, Angela, Ernste, Paige, Lulis, Lauren, Nesbitt, Addie, Tayoun, Ahmad Abou, Gray, Christopher, Towne, Meghan C., Radtke, Kelly, Normand, Elizabeth A., Rhodes, Lindsay, Seiler, Christoph, Shirahige, Katsuhiko, Izumi, Kosuke

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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance von Cordovado, Amélie, Schaettin, Martina, Jeanne, Médéric, Panasenkava, Veranika, Denommé-Pichon, Anne-Sophie, Keren, Boris, Mignot, Cyril, Doco-Fenzy, Martine, Rodan, Lance, Ramsey, Keri, Narayanan, Vinodh, Jones, Julie R, Prijoles, Eloise J, Mitchell, Wendy G, Ozmore, Jillian R, Juliette, Kali, Torti, Erin, Normand, Elizabeth A, Granger, Leslie, Petersen, Andrea K, Au, Margaret G, Matheny, Juliann P, Phornphutkul, Chanika, Chambers, Mary-Kathryn, Fernández-Ramos, Joaquín-Alejandro, López-Laso, Eduardo, Kruer, Michael C, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond J, Childers, Anna, Everman, David B, Isidor, Betrand, Audebert-Bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frédéric, Stoeckli, Esther T, Toutain, Annick, Vuillaume, Marie-Laure

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Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies von Aref-Eshghi, Erfan, Anderson, Katherine J., Boulay, Lauren, Brown, Kathleen, Duis, Jessica, Giummo, Christine A., Ogawa, Jessica, Carere, Deanna Alexis, Normand, Elizabeth A., Qian, Yaping, McWalter, Kirsty, Torti, Erin

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Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells von Normand, Elizabeth, Qdaisat, Sadeem, Bi, Weimin, Shaw, Chad, Van den Veyver, Ignatia, Beaudet, Arthur, Breman, Amy

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Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing von Breman, Amy M, Chow, Jennifer C, U’Ren, Lance, Normand, Elizabeth A, Qdaisat, Sadeem, Zhao, Li, Henke, David M, Chen, Rui, Shaw, Chad A, Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H V, Chang, Elizabeth J, Campton, Daniel, Werbin, Jeffrey L, Seubert, Ron C, Van den Veyver, Ignatia B, Stilwell, Jackie L, Kaldjian, Eric P, Beaudet, Arthur L

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Reanalysis of Clinical Exome Sequencing Data von Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A, Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L, Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, Xiao, Rui, Wang, Xia, Chiang, Theodore, Vetrini, Francesco, He, Weimin, Cheng, Hanyin, Dong, Jie, Gijavanekar, Charul, Benke, Paul J, Bernstein, Jonathan A, Eble, Tanya, Eroglu, Yasemen, Erwin, Deanna, Escobar, Luis, Gibson, James B, Gripp, Karen, Kleppe, Soledad, Koenig, Mary K, Lewis, Andrea M, Natowicz, Marvin, Mancias, Pedro, Minor, LaKeesha, Scaglia, Fernando, Schaaf, Christian P, Streff, Haley, Vernon, Hilary, Uhles, Crescenda L, Zackai, Elaine H, Wu, Nan, Sutton, V. Reid, Beaudet, Arthur L, Muzny, Donna, Gibbs, Richard A, Posey, Jennifer E, Lalani, Seema, Shaw, Chad, Eng, Christine M, Lupski, James R, Yang, Yaping

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome von Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders von Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Karimiani, Ehsan Ghayoor, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Tayfun, Gulsen Akay, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Monajemi, Gholamreza Bahrami, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Pinto Basto, Jorge, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Issa, Awatif Hameed, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders von Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

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How Do Marginalised Young People who are in Contact with Alcohol and Other Drug Services Understand their Alcohol and Other Drug Use and ‘Addiction’? von Normand, Elizabeth Rachel

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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women: Array CGH and NGS on fetal cells enriched from maternal blood von Kølvraa, Steen, Singh, Ripudaman, Normand, Elizabeth A., Qdaisat, Sadeem, van den Veyver, Ignatia B., Jackson, Laird, Hatt, Lotte, Schelde, Palle, Uldbjerg, Niels, Vestergaard, Else Marie, Zhao, Li, Chen, Rui, Shaw, Chad A., Breman, Amy M., Beaudet, Arthur L.

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Contaminant, coloniser or invader? 1. Understanding host‐bacteria interactions von Normand, Elizabeth

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Contaminant, coloniser or invader? 2. Maximising diagnostic yield from clinical bacteriology von Normand, Elizabeth

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A practical approach to genetic inducible fate mapping: a visual guide to mark and track cells in vivo von Brown, Ashly, Brown, Stephen, Ellisor, Debra, Hagan, Nellwyn, Normand, Elizabeth, Zervas, Mark

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