Kết quả tìm kiếm - Suwannarat, Pim

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants Bằng Treepongkaruna, Suporn, Jitraruch, Suttiruk, Kodcharin, Porawee, Charoenpipop, Dussadee, Suwannarat, Pim, Pienvichit, Paneeya, Kobayashi, Keiko, Wattanasirichaigoon, Duangrurdee

lấy văn bản lấy văn bản lấy văn bản

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria Bằng Vilboux, Thierry, Kayser, Michael, Introne, Wendy, Suwannarat, Pim, Bernardini, Isa, Fischer, Roxanne, O’Brien, Kevin, Kleta, Robert, Huizing, Marjan, Gahl, William A.

lấy văn bản lấy văn bản lấy văn bản

Aortic Stenosis and Vascular Calcifications in Alkaptonuria Bằng Hannoush, Hwaida, Introne, Wendy J., Chen, Marcus Y., Lee, Sook-Jin, O'Brien, Kevin, Suwannarat, Pim, Kayser, Michael A., Gahl, William A., Sachdev, Vandana

lấy văn bản lấy văn bản lấy văn bản

Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente Bằng Jonas, M. Cabell, Suwannarat, Pim, Burnett-Hartman, Andrea, Carroll, Nikki, Turner, Michelle, Janes, Kristen, Truong, Christine, Blum-Barnett, Erica, Aziz, Nazneen, McGlynn, Elizabeth A.

lấy văn bản lấy văn bản lấy văn bản

A 3-year Randomized Therapeutic Trial of Nitisinone in Alkaptonuria Bằng Introne, Wendy J., Perry, Monique B., Troendle, James, Tsilou, Ekaterini, Kayser, Michael A., Suwannarat, Pim, O’Brien, Kevin E., Bryant, Joy, Sachdev, Vandana, Reynolds, James C., Moylan, Elizabeth, Bernardini, Isa, Gahl, William A.

lấy văn bản lấy văn bản lấy văn bản

Mouse screen reveals multiple new genes underlying mouse and human hearing loss Bằng Ingham, Neil J., Pearson, Selina A., Vancollie, Valerie E., Rook, Victoria, Lewis, Morag A., Chen, Jing, Buniello, Annalisa, Martelletti, Elisa, Preite, Lorenzo, Lam, Chi Chung, Weiss, Felix D., Powis, Zӧe, Suwannarat, Pim, Lelliott, Christopher J., Dawson, Sally J., White, Jacqueline K., Steel, Karen P.

lấy văn bản lấy văn bản lấy văn bản

Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Prog... Bằng DiNucci, Anna, Henrikson, Nora B., Jonas, M. Cabell, Basra, Sundeep, Blasi, Paula, Brown, Jennifer, Esplin, Edward D., Hassen, Dina, Hao, Jing, Hu, Yirui, Klinger, Tracey, Ladd, Ilene, Leppig, Kathleen, Lewis, Meredith, Meyer, Michelle, Ney, Steven, Ramaprasan, Arvind, Romagnoli, Katrina, Salvati, Zachary, Scrol, Aaron, Schwiter, Rachel, Sheridan, Leigh, Somasundaram, Brinda, Suwannarat, Pim, Wagner, Jennifer K., Rahm, Alanna K.

lấy văn bản lấy văn bản lấy văn bản

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas Bằng Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M

lấy văn bản lấy văn bản lấy văn bản

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans Bằng Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby M.E.I., Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom E.J., Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E., Hofstra, Robert, de Coo, Irenaeus F.M., Tabet, Anne-Claude, Molina, Thierry J., Keren, Boris, Brooks, Alice, Smeets, Hubert J.M., Marklund, Ulrika, Gordon, Christopher T., Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

lấy văn bản lấy văn bản lấy văn bản

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes Bằng Curry, Cynthia J, Rosenfeld, Jill A, Grant, Erica, Gripp, Karen W, Anderson, Carol, Aylsworth, Arthur S, Ben Saad, Taha, Chizhikov, Victor V, Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata JM, Ozmore, Jillian R, Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E, Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J, Barkovich, A James, Aradhya, Swaroop, Shaffer, Lisa G, Dobyns, William B

lấy văn bản lấy văn bản lấy văn bản

CSNK2B: a broad spectrum of neurodevelopmental disability and epilepsy severity Bằng Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S.C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M.S., Madan-Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz-Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

lấy văn bản lấy văn bản lấy văn bản

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome Bằng Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez-Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul-Rahman, Omar, Alkuraya, Fowzan S., Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary-Alice, Allain, Dawn C., Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K., Johnson, Amy E. Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell-Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J., Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero-Rivera, Fabiola

lấy văn bản lấy văn bản lấy văn bản