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2by Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, MicheleGet full text
Published in Genetics in medicine
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3by Wasserstein, Melissa P., Andriola, Mary, Arnold, Georgianne, Aron, Alan, Duffner, Patricia, Erbe, Richard W., Escolar, Maria L., Estrella, Lissette, Galvin-Parton, Patricia, Iglesias, Alejandro, Kay, Denise M., Kronn, David F., Kurtzberg, Joanne, Kwon, Jennifer M., Langan, Thomas J., Levy, Paul A., Naidich, Thomas P., Orsini, Joseph J., Pellegrino, Joan E., Provenzale, James M., Wenger, David A., Caggana, MicheleGet full text
Published in Genetics in medicine
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4Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylationby Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A., Kronn, David F., Freeze, Hudson H.Get full text
Published in American journal of human genetics
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6by Ensenauer, Regina, Winters, Jennifer L., Parton, Patricia A., Kronn, David F., Kim, Jong-Won, Matern, Dietrich, Rinaldo, Piero, Hahn, Si HounGet full text
Published in Genetics in medicine
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7by Kong, Yu, Berko, Esther R, Marcketta, Anthony, Maqbool, Shahina B, Simões-Pires, Claudia A, Kronn, David F, Ye, Kenny Q, Suzuki, Masako, Auton, Adam, Greally, John MGet full text
Published in Genome research
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8by Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MDGet full text
Published in Pediatric neurology
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11by Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, AlexandreGet full text
Published in American journal of human genetics
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12by Diaz, George A., Krivitzky, Lauren S., Mokhtarani, Masoud, Rhead, William, Bartley, James, Feigenbaum, Annette, Longo, Nicola, Berquist, William, Berry, Susan A., Gallagher, Renata, Lichter‐Konecki, Uta, Bartholomew, Dennis, Harding, Cary O., Cederbaum, Stephen, McCandless, Shawn E., Smith, Wendy, Vockley, Gerald, Bart, Stephen A., Korson, Mark S., Kronn, David, Zori, Roberto, Merritt, J. Lawrence, C.S. Nagamani, Sandesh, Mauney, Joseph, LeMons, Cynthia, Dickinson, Klara, Moors, Tristen L., Coakley, Dion F., Scharschmidt, Bruce F., Lee, BrendanGet full text
Published in Hepatology (Baltimore, Md.)
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13by Lee, Brendan, Diaz, George A, Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A, Le Mons, Cindy, Bartley, James A, Longo, Nicola, Nagamani, Sandesh C, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, 2nd, J Lawrence, Schulze, Andreas, Vockley, Jerry, Vockley, Gerard, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A, Marino, Miguel, Coakley, Dion F, Mokhtarani, Masoud, Scharschmidt, Bruce FGet full text
Published in Genetics in medicine
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14by Nagamani, Sandesh C S, Diaz, George A, Rhead, William, Berry, Susan A, Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, 2nd, J Lawrence, Wong, Derek, Coakley, Dion F, Scharschmidt, Bruce F, Dickinson, Klara, Marino, Miguel, Lee, Brendan H, Mokhtarani, MasoudGet full text
Published in Molecular genetics and metabolism
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15by Nagamani, Sandesh C., Diaz, George A., Rhead, William J., Berry, Sue A., Le Mons, Cindy, Lichter-Konecki, Uta, Bartley, James A., Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William E., Gallagher, Renata, Bartholomew, Dennis W., Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy E., Vockley, Gerard, Kronn, David, Zori, Robert, Coakley, Dion F., Scharschmidt, Bruce F., Mokhtarani, Masoud, Lee, Brendan H.Get full text
Published in Clinical biochemistry
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