Determination of δ-aminolevulinic acid in blood plasma and urine by gas-liquid chromatography von MacGee, Joseph, Roda, Sandy M.B., Elias, Sami V., Lington, Arthur, Tabor, Marvin W., Hammond, Paul B.

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay von Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

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Adaptive foraging behaviours in the Horn of Africa during Toba supereruption von Kappelman, John, Todd, Lawrence C., Davis, Christopher A., Cerling, Thure E., Feseha, Mulugeta, Getahun, Abebe, Johnsen, Racheal, Kay, Marvin, Kocurek, Gary A., Nachman, Brett A., Negash, Agazi, Negash, Tewabe, O’Brien, Kaedan, Pante, Michael, Ren, Minghua, Smith, Eugene I., Tabor, Neil J., Tewabe, Dereje, Wang, Hong, Yang, Deming, Yirga, Solomon, Crowell, Jordan W., Fanuka, Matthew F., Habtie, Teshager, Hirniak, Jayde N., Klehm, Carla, Loewen, Natalia D., Melaku, Sahleselasie, Melton, Sierra M., Myers, Timothy S., Millonig, Sarah, Plummer, Megan C., Riordan, Keenan J., Rosenau, Nicholas A., Skinner, Anne, Thompson, Abraham K., Trombetta, Lindsey M., Witzel, Adrienne, Assefa, Ephrem, Bodansky, Maria, Desta, Ayenachew A., Campisano, Christopher J., Dalmas, Daniel, Elliott, Connor, Endalamaw, Metasebia, Ford, Nicholas J., Foster, Frederick, Getachew, Tomas, Haney, Yibai Li, Ingram, Brittney H., Jackson, Jonayah, Marean, Curtis W., Mattox, Sissi, de la Cruz Medina, Karla, Mulubrhan, Gebretsadkan, Porter, Keri, Roberts, Alexis, Santillan, Perla, Sollenberger, Alaric, Sponholtz, Julia, Valdes, Jessica, Wyman, Lani, Yadeta, Meklit, Yanny, Sierra

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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3 von Chong, Jessica X., Burrage, Lindsay C., Beck, Anita E., Marvin, Colby T., McMillin, Margaret J., Shively, Kathryn M., Harrell, Tanya M., Buckingham, Kati J., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population von Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M., Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A., Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.

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