Treffer 1 - 20 von 96 für Suche 'Cole, Lynne C', Suchdauer: 1,74s Treffer weiter einschränken
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    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) von Lin, Angela E., Scimone, Eleanor R., Thom, Robyn P., Balaguru, Duraisamy, Kinane, T. Bernard, Moschovis, Peter P., Cohen, Michael S., Tan, Weizhen, Hague, Cole D., Dannheim, Katelyn, Levitsky, Lynne L., Lilly, Evelyn, DiGiacomo, Daniel V., Masse, Kara M., Kadzielski, Sarah M., Zar‐Kessler, Claire A., Ginns, Leo C., Neumeyer, Ann M., Colvin, Mary K., Elder, Jack S., Learn, Christopher P., Mou, Hongmei, Weagle, Kathryn M., Buch, Karen A., Butler, William E., Alhadid, Kenda, Musolino, Patricia L., Sultana, Sadia, Bandyopadhyay, Dhrubajyoti, Rapalino, Otto, Peacock, Zachary S., Chou, Elizabeth L., Heidary, Gena, Dorfman, Aaron T., Morris, Shaine A., Bergin, James D., Rayment, Jonathan H., Schimmenti, Lisa A., Lindsay, Mark E., Acosta, Luisa Paredes, Bassetti, Jennifer A., Bowdin, Sarah, Bress, Joy A., Camarda, Joseph A., Chiu, Joanne S., Corrales, C. Eduardo, Costain, Gregory, Dinulos, Mary Beth P., Devanagondi, Rajiv, Doherty, Emily S., Dykes, John, Duhaime, Ann‐Christine, English, Robert F., Fieg, Elizabeth, Friedman, Nora D. B., Garabedian, Carl P., Glowacki, Samantha, Gottlieb, Barbara R., Griffin, Mary Hope, Hayes, Frances J., Hicks, Stephanie R., Hinze, Alicia M., Jason, Brigette A., Krier, Joel, Lindgren, Kristen, Lyons, Michael, Majid, Adnan, Mannem, Hannah C., McDonald, Marie, Misra, Vinod, Morgan, Amy, Nath, Barbara J., Ploutz, Michele, Prijoles, Eloise J., Pulsifer, Margaret B., Quesnel, Alicia M., Rajabi, Farrah, Rohanizadegan, Mersedeh, Rosales, Ana Maria, Rothermel, Holly, Schussler, Edith, Sellars, Elizabeth A., Shieh, Joseph, Sherrill, Stephanie, Taska‐Tench, Heidi, Thompson, Matthew, Tiller, George E., Vallee, Stephanie E., Viskochil, David, Ware, Stephanie, Whooten, Rachel C., Yang, Samuel, Zackai, Elaine H., Zakaria, Dala


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    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

    Veröffentlicht in Genetics in medicine

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