Respite care for families of children with severe handicaps: An evaluation study of parent satisfaction by Ptacek, Louis J., Sommers, Paul A., Graves, Jean, Lukowicz, Phillip, Keena, Elizabeth, Haglund, June, Nycz, Gregory R.

Get full text

Lessons From a 10-yr Invasive Species Webinar Program: Emerald Ash Borer University by Barnes, Elizabeth E., Usborne, Robin, Stone, Amy, Sadof, Clifford S.

Get full text

Worried about being imperfect? The mediating effect of physical appearance perfectionism between Instagram addiction and body esteem by Simon, Patricia D., Cu, Sydney Margaret O., De Jesus, Kim Elizabeth M., Go, Nicole Therese S., Lim, Keena Tracy F., Say, Chloe Louise C.

Get full text

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 by Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

Get full text

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients by Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.

Get full text

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism by Romasko, Edward J., DeChene, Elizabeth T., Balciuniene, Jorune, Akgumus, Gozde T., Helbig, Ingo, Tarpinian, Jennifer M., Keena, Beth A., Vogiatzi, Maria G., Zackai, Elaine H., Izumi, Kosuke, Massey, Shavonne L., Tayoun, Ahmad N. Abou

Get full text

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment by Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

Get full text

Developing and sustaining a community advisory committee to support, inform, and translate biomedical research by Skelton, Joseph A, Daniel, Stephanie S, Tapp, Hazel, Moore, Keena R, Mann-Jackson, Lilli, Alonzo, Jorge, Randall, Isaiah, Isler, Victor, Barrett, Claudia, Badger, Diamond, Lees, Elizabeth, Rhodes, Scott D

Get full text

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A, Bassetti, Jennifer A, Moldovan, Oana, O'Heir, Emily, Burrage, Lindsay C, Allen, Jake, Emrick, Lisa T, Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H, Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J, Umair, Muhammad, Li, Dong, Donald, Kirsten A, Superti-Furga, Andrea

Get full text

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features by Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, McCormick, Elizabeth M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange-Line, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana

Get full text

A modular approach to cataloguing marine science data by Leadbetter, Adam, Meaney, Will, Tray, Elizabeth, Conway, Andrew, Flynn, Sarah, Keena, Tara, Kelly, Caoimhín, Thomas, Rob

Get full text

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies by Matalon, Dena R., Stevenson, David A., Bhoj, Elizabeth J., Santani, Avni B., Keena, Beth, Cohen, Meryl S., Lin, Angela E., Sheppard, Sarah E., Zackai, Elaine H.

Get full text

Expanding Genetic Counselor Roles: A Model for Global Research Development by Muraresku, Colleen C, McCormick, Elizabeth M, Rockart, Lydia, Blaine Crowley, T, Asher, Stephanie, Back, Amanda, Baldino, Sarah M, Bedoukian, Emma, Britt, Allison D, Burrill, Natalie, Cacioppo, Cara, Clark, Dana Farengo, Clark, Mary Egan, Conway, Laura, Dratch, Laynie, Dubbs, Holly A, Engelhardt, Nicole M, Ginn, Natalie, Gray, Christopher, Hartman, Tiff, Hathaway, Evan R, Helbig, Katherine L, Hoffman-Andrews, Lily, Kasperski, Stefanie, Keena, Beth A, Keller, Kierstin N, Long, Jessica M, Lulis, Lauren, Lusk, Laina, McGinn, Daniel E, Mueller, Rebecca, Paul, Rache A, Pilchman, Lisa, Powers, Jacquelyn, Raible, Sarah E, Reichert, Sara, Rippert, Alyssa L, Arnold, Angela G, Ruggiero, Sarah M, Schindewolf, Erica, Sullivan, Katie Rose, Terek, Shannon, Wang, Bekah, Wells, McKenzie, Wisniewski, Natalia, Wright, Renee, Wood, Elisabeth McCarty, Woyciechowski, Stacy, Zelley, Kristin, Valverde, Kathleen D, McDonald-McGinn, Donna M

Get full text