-
1دورية أكاديمية
المؤلفون: Ewans, Lisa J.Aff1, Aff2, Aff3, IDs41431022011622_cor1, Minoche, Andre E.Aff1, Aff2, Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, YingAff5, Aff6, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C.Aff7, Aff8, Colley, Alison, Ellaway, CarolynAff3, Aff8, Evans, Carey-AnneAff6, Aff10, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P.Aff3, Aff6, Aff14, Lipke, MichelleAff3, Aff15, Mowat, DavidAff3, Aff14, Palmer, ElizabethAff3, Aff5, Aff14, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, RaniAff3, Aff14, Stevenson, WilliamAff16, Aff17, Turner, AnneAff3, Aff14, Wilson, MeredithAff7, Aff8, Worgan, Lisa, Morel-Kopp, Marie-ChristineAff16, Aff17, Field, Michael, Buckley, Michael F., Cowley, Mark J.Aff1, Aff2, Dinger, Marcel E.Aff2, Aff18, IDs41431022011622_cor34, Roscioli, TonyAff3, Aff6, Aff10, IDs41431022011622_cor35
المصدر: European Journal of Human Genetics. 30(10):1121-1131
-
2دورية أكاديمية
المؤلفون: Palmer, Elizabeth E, Hong, Seungbeom, Zahrani, Fatema Al, Hashem, Mais O, Aleisa, Fajr A, Ahmed, Heba M Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E, Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P, Cowley, Mark J, Dinger, Marcel, Rosenfeld, Jill A, Xiao, Rui, Cho, Megan T, Yakubu, Suliat F, Henderson, Lindsay B, Sacoto, Maria J Guillen, Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V, Jones, Marilyn C, Lindstrom, Kristin, Bristol, Ruth E, Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P, Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K, Alkuraya, Fowzan S, Arold, Stefan T
المصدر: American Journal of Human Genetics. 104(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurodegenerative, Rare Diseases, Genetics, Pediatric, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Amino Acid Motifs, Child, Child, Preschool, Female, Genetic Variation, Humans, Infant, Male, Nerve Tissue Proteins, Neurocognitive Disorders, Phenotype, Prognosis, Repetitive Sequences, Nucleic Acid, Syndrome, HX repeat, allelic disorders, developmental delay, dysmorphic, intellectual disability, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9q1277p4
-
3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
4دورية أكاديمية
المؤلفون: Lehner, Reinhard, Blazek, Lisa, Minoche, André E., Dohm, Juliane C. *, Himmelbauer, Heinz *
المصدر: In Journal of Biotechnology 10 June 2021 333:67-76
-
5دورية أكاديمية
المؤلفون: Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.
المصدر: In Med 15 January 2021 2(1):49-73
-
6دورية أكاديمية
المؤلفون: Mallawaarachchi, Amali C.Aff1, Aff2, Aff3, Lundie, Ben, Hort, Yvonne, Schonrock, NicoleAff3, Aff4, Aff5, Senum, Sarah R., Gayevskiy, Velimir, Minoche, Andre E., Hollway, GeorginaAff3, Aff4, Aff5, Ohnesorg, Thomas, Hinchcliffe, Marcus, Patel, Chirag, Tchan, MichelAff9, Aff10, Mallett, AndrewAff11, Aff12, Aff13, Dinger, Marcel E., Rangan, GopalaAff15, Aff16, Cowley, Mark J.Aff4, Aff5, Aff17, Harris, Peter C., Burnett, LeslieAff3, Aff5, Aff7, Aff10, Shine, John, Furlong, Timothy J.Aff1, Aff18
المصدر: European Journal of Human Genetics. 29(5):760-770
-
7دورية أكاديمية
المؤلفون: Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
المصدر: In Genetics in Medicine October 2020 22(10):1623-1632
-
8دورية أكاديمية
المؤلفون: Dittami, Simon M., Corre, Erwan, Brillet-Guéguen, Loraine, Lipinska, Agnieszka P., Pontoizeau, Noé, Aite, Meziane, Avia, Komlan, Caron, Christophe, Cho, Chung Hyun, Collén, Jonas, Cormier, Alexandre, Delage, Ludovic, Doubleau, Sylvie, Frioux, Clémence, Gobet, Angélique, González-Navarrete, Irene, Groisillier, Agnès, Hervé, Cécile, Jollivet, Didier, KleinJan, Hetty, Leblanc, Catherine, Liu, Xi, Marie, Dominique, Markov, Gabriel V., Minoche, André E., Monsoor, Misharl, Pericard, Pierre, Perrineau, Marie-Mathilde, Peters, Akira F., Siegel, Anne, Siméon, Amandine, Trottier, Camille, Yoon, Hwan Su, Himmelbauer, Heinz, Boyen, Catherine, Tonon, Thierry
المصدر: In Marine Genomics August 2020 52
-
9دورية أكاديمية
المؤلفون: Minoche, Andre E.Aff1, Aff2, Lundie, Ben, Peters, Greg B., Ohnesorg, ThomasAff1, Aff4, Pinese, MarkAff5, Aff6, Thomas, David M.Aff2, Aff7, Zankl, AndreasAff1, Aff8, Aff9, Roscioli, TonyAff10, Aff11, Aff12, Aff13, Schonrock, NicoleAff1, Aff4, Kummerfeld, SarahAff1, Aff2, Burnett, LeslieAff1, Aff2, Aff4, Aff9, Dinger, Marcel E.Aff1, Aff14, Cowley, Mark J.Aff1, Aff2, Aff5, Aff6
المصدر: Genome Medicine. 13(1)
-
10دورية أكاديمية
المؤلفون: van Eyk, C. L.Aff1, Aff2, Webber, D. L.Aff1, Aff2, Minoche, A. E., Pérez-Jurado, L. A.Aff2, Aff4, Aff5, Corbett, M. A.Aff1, Aff2, Gardner, A. E., Berry, J. G.Aff1, Aff2, Harper, K.Aff1, Aff2, MacLennan, A. H.Aff1, Aff2, Gecz, J.Aff1, Aff2, Aff4
المصدر: npj Genomic Medicine. 6(1)