Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Pereira Sergio L"'
Autor:
Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O
Publikováno v:
BMC Medical Genetics, Vol 13, Iss 1, p 111 (2012)
Abstract Background Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent veno
Externí odkaz:
https://doaj.org/article/0b204c94af4c404988610ac3b83d6484
Autor:
Trost, Brett, Thiruvahindrapuram, Bhooma, Chan, Ada J.S., Engchuan, Worrawat, Higginbotham, Edward J., Howe, Jennifer L., Loureiro, Livia O., Reuter, Miriam S., Roshandel, Delnaz, Whitney, Joe, Zarrei, Mehdi, Bookman, Matthew, Somerville, Cherith, Shaath, Rulan, Abdi, Mona, Aliyev, Elbay, Patel, Rohan V., Nalpathamkalam, Thomas, Pellecchia, Giovanna, Hamdan, Omar, Kaur, Gaganjot, Wang, Zhuozhi, MacDonald, Jeffrey R., Wei, John, Sung, Wilson W.L., Lamoureux, Sylvia, Hoang, Ny, Selvanayagam, Thanuja, Deflaux, Nicole, Geng, Melissa, Ghaffari, Siavash, Bates, John, Young, Edwin J., Ding, Qiliang, Shum, Carole, D'Abate, Lia, Bradley, Clarrisa A., Rutherford, Annabel, Aguda, Vernie, Apresto, Beverly, Chen, Nan, Desai, Sachin, Du, Xiaoyan, Fong, Matthew L.Y., Pullenayegum, Sanjeev, Samler, Kozue, Wang, Ting, Ho, Karen, Paton, Tara, Pereira, Sergio L., Herbrick, Jo-Anne, Wintle, Richard F., Fuerth, Jonathan, Noppornpitak, Juti, Ward, Heather, Magee, Patrick, Al Baz, Ayman, Kajendirarajah, Usanthan, Kapadia, Sharvari, Vlasblom, Jim, Valluri, Monica, Green, Joseph, Seifer, Vicki, Quirbach, Morgan, Rennie, Olivia, Kelley, Elizabeth, Masjedi, Nina, Lord, Catherine, Szego, Michael J., Zawati, Ma'n H., Lang, Michael, Strug, Lisa J., Marshall, Christian R., Costain, Gregory, Calli, Kristina, Iaboni, Alana, Yusuf, Afiqah, Ambrozewicz, Patricia, Gallagher, Louise, Amaral, David G., Brian, Jessica, Elsabbagh, Mayada, Georgiades, Stelios, Messinger, Daniel S., Ozonoff, Sally, Sebat, Jonathan, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Kushki, Azadeh, Frazier, Thomas W., Vorstman, Jacob A.S., Fakhro, Khalid A., Fernandez, Bridget A., Lewis, M.E. Suzanne, Weksberg, Rosanna, Fiume, Marc, Yuen, Ryan K.C., Anagnostou, Evdokia, Sondheimer, Neal, Glazer, David, Hartley, Dean M., Scherer, Stephen W.
Publikováno v:
In Cell 10 November 2022 185(23):4409-4427
Autor:
Jegathisawaran, Jathishinie, Tsiplova, Kate, Hayeems, Robin Z., Marshall, Christian R., Stavropoulos, Dimitri J., Pereira, Sergio L., Thiruvahindrapuram, Bhooma, Liston, Eriskay, Reuter, Miriam S., Manshaei, Roozbeh, Cohn, Iris, Jobling, Rebekah, Kim, Raymond H., Mital, Seema, Ungar, Wendy J.
Publikováno v:
In Genetics in Medicine May 2022 24(5):1027-1036
Autor:
Benoit, Simon M., Xu, Hu, Schmid, Susanne, Alexandrova, Roumiana, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Jog, Mandar, Hebb, Matthew O.
Publikováno v:
In Neurobiology of Disease July 2020 140
Autor:
Reuter, Miriam S., Chaturvedi, Rajiv R., Liston, Eriskay, Manshaei, Roozbeh, Aul, Ritu B., Bowdin, Sarah, Cohn, Iris, Curtis, Meredith, Dhir, Priya, Hayeems, Robin Z., Hosseini, S. Mohsen, Khan, Reem, Ly, Linh G., Marshall, Christian R., Mertens, Luc, Okello, John B.A., Pereira, Sergio L., Raajkumar, Akshaya, Seed, Mike, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Kim, Raymond H. *, Jobling, Rebekah K. *
Publikováno v:
In Genetics in Medicine June 2020 22(6):1015-1024
Akademický článek
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Autor:
Eckford, Paul D.W., McCormack, Jacqueline, Munsie, Lise, He, Gengming, Stanojevic, Sanja, Pereira, Sergio L., Ho, Karen, Avolio, Julie, Bartlett, Claire, Yang, Jin Ye, Wong, Amy P., Wellhauser, Leigh, Huan, Ling Jun, Jiang, Jia Xin, Ouyang, Hong, Du, Kai, Klingel, Michelle, Kyriakopoulou, Lianna, Gonska, Tanja, Moraes, Theo J., Strug, Lisa J., Rossant, Janet, Ratjen, Felix, Bear, Christine E.
Publikováno v:
In Journal of Cystic Fibrosis January 2019 18(1):35-43
Autor:
Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
Publikováno v:
In The American Journal of Human Genetics 4 January 2018 102(1):142-155
Autor:
Tsiplova, Kate, Zur, Richard M, Marshall, Christian R, Stavropoulos, Dimitri J, Pereira, Sergio L, Merico, Daniele, Young, Edwin J, Sung, Wilson W L, Scherer, Stephen W, Ungar, Wendy J
Publikováno v:
In Genetics in Medicine November 2017 19(11):1268-1275
Publikováno v:
Systematic Biology, 2002 Dec 01. 51(6), 946-958.
Externí odkaz:
https://www.jstor.org/stable/3070829