-
1دورية أكاديمية
المؤلفون: 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, Del Campo, Miguel, 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
المصدر: American Journal of Medical Genetics Part A. 185(6)
مصطلحات موضوعية: Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann‐, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0xp4224dTest
-
2دورية
-
3دورية أكاديمية
المؤلفون: Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison L., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-023-41651-6Test
https://www.nature.com/articles/s41467-023-41651-6.pdfTest
https://www.nature.com/articles/s41467-023-41651-6Test -
4دورية أكاديمية
المؤلفون: Carter, Melissa T, Srour, Myriam, Au, Ping-Yee Billie, Buhas, Daniela, Dyack, Sarah, Eaton, Alison, Inbar-Feigenberg, Michal, Howley, Heather, Kawamura, Anne, Lewis, Suzanne M E, McCready, Elizabeth, Nelson, Tanya N, Vallance, Hilary
المساهمون: Heather Howley, M.E. Suzanne Lewis
المصدر: Journal of Medical Genetics ; volume 60, issue 6, page 523-532 ; ISSN 0022-2593 1468-6244
-
5دورية أكاديمية
المؤلفون: Van Der Knoop, Marieke M., Maroofian, Reza, Fukata, Yuko, Van Ierland, Yvette, Karimiani, Ehsan G., Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, De França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A.L., Eaton, Alison J., Morneau-Jacob, Francois D., Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J., Peeters-Scholte, Cacha M.P.C.D., Kurul, Semra Hiz, Horvath, Rita, Lochmöller, Hanns, Murphy, David, Waldmöller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M., Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S., Voinova, Victoria Y., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Alkuraya, Fowzan S., Mefford, Heather C., Alfadhel, Majid, Haack, Tobias B., Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
المصدر: Van Der Knoop , M M , Maroofian , R , Fukata , Y , Van Ierland , Y , Karimiani , E G , Lehesjoki , A E , Muona , M , Paetau , A , Miyazaki , Y , Hirano , Y , Selim , L , De França , M , Fock , R A , Beetz , C , Ruivenkamp , C A L , Eaton , A J , Morneau-Jacob , F D , Sagi-Dain , L , Shemer-Meiri , L , Peleg , A , Haddad-Halloun , J , Kamphuis , D ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/brain/awac116Test
https://pure.eur.nl/en/publications/9a990e6f-5e84-42f7-8098-bd64ad38d676Test
https://pure.eur.nl/ws/files/61759710/awac116.pdfTest
http://www.scopus.com/inward/record.url?scp=85135714659&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna-Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia AL, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha MPCD, Hiz Kurul, Semra, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
المصدر: Brain , 145 (7) pp. 2301-2312. (2022)
مصطلحات موضوعية: ADAM22, LGI1, developmental and epileptic encephalopathy, refractory seizures
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac116.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10146747Test/
-
7دورية أكاديمية
المؤلفون: Bustos, Francisco, Espejo-Serrano, Carmen, Segarra-Fas, Anna, Toth, Rachel, Eaton, Alison J., Kernohan, Kristin D., Wilson, Meredith J., Riley, Lisa G., Findlay, Greg M.
المساهمون: Medical Research Council, Wellcome Trust
المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-021-88911-3Test
https://www.nature.com/articles/s41598-021-88911-3.pdfTest
https://www.nature.com/articles/s41598-021-88911-3Test -
8دورية أكاديمية
المؤلفون: Reeder, Sophia M., Bah, Mamadou A., Tursi, Nicholas J., Brooks, Rebekah C., Patel, Ami, Esquivel, Rianne, Eaton, Alison, Jhun, Hugo, Chu, Jacqueline, Kim, Kevin, Xu, Ziyang, Zavala, Fidel, Weiner, David B.
المساهمون: Saeij, Jeroen P. J., Bill and Melinda Gates Foundation, HHS | NIH | National Cancer Institute
المصدر: Infection and Immunity ; volume 89, issue 10 ; ISSN 0019-9567 1098-5522
-
9دورية أكاديمية
المؤلفون: Chelban, Viorica, Wilson, Matthew P., Chardon, Jodi Warman, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba-Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo-Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E.C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J.R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry, Care4Rare Canada Consortium, the SYNaPS Study Group.
المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)
مصطلحات موضوعية: Neuropaties perifèriques, Cinètica enzimàtica, Peripheral neuropathies, Enzyme kinetics
وصف الملف: 16 p.; application/pdf
العلاقة: Reproducció del document publicat a: https://doi.org/10.1002/ana.25524Test; Annals of Neurology, 2019, vol. 86, num. 2, p. 225-240; https://doi.org/10.1002/ana.25524Test; http://hdl.handle.net/2445/194591Test; 693883
-
10دورية أكاديمية
المؤلفون: Chelban, Viorica, Wilson, Matthew P, Chardon, Jodi Warman, Vandrovcova, Jana, Natalia Zanetti, M, Zamba-Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R, Abis, Giancarlo, Liu, Yo-Tsen, Tribollet, Eloise, Haridy, Nourelhoda A, Botía, Juan A, Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D, Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James EC, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M, Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon JR, Wood, Nicholas W, Rothman, James E, Boycott, Kym M, Mills, Philippa B, Clayton, Peter T, Houlden, Henry
مصطلحات موضوعية: Parallel session 3: Phenotype and Genotypes
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/90/12/e4-cTest; http://dx.doi.org/10.1136/jnnp-2019-ABN-2.13Test
الإتاحة: https://doi.org/10.1136/jnnp-2019-ABN-2.13Test
http://jnnp.bmj.com/cgi/content/short/90/12/e4-cTest
