Resultados da busca - Shaw, Jessica E
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1
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder por Wang, Yuexia, Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Shaw, Jessica E., Lu, Jonathan T., Östlund, Cecilia, Shin, Ji-Yeon, Clark, Lorraine N., Gundersen, Gregg G., Nagy, Peter L., Worman, Howard J.
Publicado em 2016Texto -
2
Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact por Wynn, Julia, Ottman, Ruth, Duong, Jimmy, Wilson, Ashley L, Ahimaz, Priyanka, Martinez, Josue, Rabin, Rachel, Rosen, Emily, Webster, Rachel, Au, Catherine, Cho, Megan T., Egan, Claire, Guzman, Edwin, Primiano, Michelle, Shaw, Jessica E, Sisson, Rebecca, Klitzman, Robert L., Appelbaum, Paul S., Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Iglesias, Alejandro, Chung, Wendy K.
Publicado em 2018Texto -
3
Defining the phenotypic spectrum of SLC6A1 mutations por Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, de Saint Martin, Anne, Lehesjoki, Anna-Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi-Warde, Marie-Thérèse, Chelly, Jamel, Piton|, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen-Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong-Hee, Czapansky-Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.
Publicado em 2018Texto