المؤلفون: Gahbauer, Stefan, Correy, Galen J, Schuller, Marion, Ferla, Matteo P, Doruk, Yagmur Umay, Rachman, Moira, Wu, Taiasean, Diolaiti, Morgan, Wang, Siyi, Neitz, R Jeffrey, Fearon, Daren, Radchenko, Dmytro S, Moroz, Yurii S, Irwin, John J, Renslo, Adam R, Taylor, Jenny C, Gestwicki, Jason E, von Delft, Frank, Ashworth, Alan, Ahel, Ivan, Shoichet, Brian K, Fraser, James S

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 120(2)

مصطلحات موضوعية: Theory Of Computation, Biochemistry and Cell Biology, Biological Sciences, Medicinal and Biomolecular Chemistry, Chemical Sciences, Built Environment and Design, Information and Computing Sciences, Design, Emerging Infectious Diseases, Vaccine Related, Biodefense, Prevention, Lung, Infectious Diseases, Pneumonia & Influenza, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Generic health relevance, Humans, SARS-CoV-2, COVID-19, Crystallography, Pandemics, Ligands, Molecular Docking Simulation, Protease Inhibitors, Antiviral Agents, coronavirus, macrodomain, virtual screening, fragment-based drug discovery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3qr8j49t

المؤلفون: Maroofian, Reza, Pagnamenta, Alistair T., Navabazam, Alireza, Schwessinger, Ron, Roberts, Hannah E., Lopopolo, Maria, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Haerian, Alireza, Soltanianzadeh, Mojtaba, Noori Kooshki, Mohammad Hadi, Knight, Samantha J.L., Miller, Kerry A., McGowan, Simon J., Chatron, Nicolas, Timberlake, Andrew T., Melo, Uirá Souto, Mundlos, Stefan, Buck, David, Twigg, Stephen R.F., Taylor, Jenny C., Wilkie, Andrew O.M., Calpena, Eduardo

المصدر: In Human Genetics and Genomics Advances 10 October 2024 5(4)

المؤلفون: Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Ibnouf Hussein, Rana, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Allen, Zoe, Perez-Becerril, Cristina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H., Taylor, Jenny C.

المصدر: In The American Journal of Human Genetics 6 June 2024 111(6):1140-1164

المؤلفون: Pagnamenta, Alistair T.^{Aff1, Aff2}, Camps, Carme^{Aff1, Aff2}, Giacopuzzi, Edoardo^{Aff1, Aff2, Aff3}, Taylor, John M.^{Aff2, Aff4}, Hashim, Mona^{Aff1, Aff2}, Calpena, Eduardo^{Aff2, Aff5}, Kaisaki, Pamela J.^{Aff1, Aff2}, Hashimoto, Akiko, Yu, Jing^{Aff1, Aff2}, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton^{Aff5, Aff6}, Dreau, Helene^{Aff2, Aff7}, Ferla, Matteo^{Aff1, Aff2}, Lange, Lukas^{Aff1, Aff2}, Kesim, Yesim^{Aff1, Aff2}, Ragoussis, Vassilis^{Aff1, Aff2}, Vavoulis, Dimitrios V.^{Aff1, Aff2, Aff7}, Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth^{Aff10, Aff11}, Baños-Piñero, Benito, Beeson, David^{Aff5, Aff9}, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward^{Aff2, Aff14}, Brasch-Andersen, Charlotte, Bull, Katherine R.^{Aff1, Aff16}, Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin^{Aff5, Aff9}, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L.^{Aff1, Aff2}, Kreins, Alexandra Y., Kvikstad, Erika M.^{Aff1, Aff2}, Langman, Craig B., Lester, Tracy, Lines, Kate E.^{Aff2, Aff28}, Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H.^{Aff9, Aff14}, Okoli, Steven, Ormondroyd, Elizabeth^{Aff2, Aff38}, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M.^{Aff1, Aff2}, Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana^{Aff1, Aff9}, Riva, Simone G., Roberts, Irene^{Aff5, Aff24}, Roy, Noémi, Salminen, Outi^{Aff2, Aff7}, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H.^{Aff2, Aff24, Aff43}, van Wijk, Richard, Vona, Barbara^{Aff40, Aff45, Aff46}, Wall, Steven, Wang, Jing, Watkins, Hugh^{Aff2, Aff38}, Zak, Jaroslav^{Aff30, Aff48}, Schuh, Anna H., Kini, Usha^{Aff2, Aff14}, Wilkie, Andrew O. M.^{Aff2, Aff5}, Popitsch, Niko^{Aff1, Aff2, Aff49}, Taylor, Jenny C.^{Aff1, Aff2, IDs13073023012400_cor97}

المصدر: Genome Medicine. 15(1)

المؤلفون: Pagnamenta, Alistair T., Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P., Toosi, Mehran B., Calder, Alistair D., Karimiani, Ehsan G., Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, 1969, Lester, Tracy, Maroofian, Reza, Heath, Karen E., Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C.

المصدر: Journal of Medical Genetics. 59(10):947-950

مصطلحات موضوعية: Genetics (clinical), Genetics, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-20732
https://doi.org/10.1136/jmedgenet-2021-108027
https://his.diva-portal.org/smash/get/diva2:1615652/FULLTEXT02.pdf

المؤلفون: Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza-Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima

المصدر: Annals of Clinical and Translational Neurology. 8(11):2155-2165

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/91923fb2-2551-4bc0-b6e5-b9e54ab67190
http://dx.doi.org/10.1002/acn3.51470

المؤلفون: Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R, Pagnamenta, Alistair T, Wenninger-Weinzierl, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A, Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A, Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M, Cooper, Gregory M, Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J, Keays, David Anthony

المصدر: Neuron. 100(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Agenesis of Corpus Callosum, Animals, Animals, Newborn, Apoptosis, Brain, Cells, Cultured, Cerebellum, Child, Developmental Disabilities, Disease Models, Animal, Embryo, Mammalian, Female, Gene Expression Regulation, Developmental, Humans, Male, Malformations of Cortical Development, Mice, Mice, Inbred C57BL, Mice, Knockout, Microtubule-Associated Proteins, Mutation, Nerve Tissue Proteins, Nervous System Malformations, PAX6 Transcription Factor, MAST1, cerebellar hypoplasia, corpus callosum, microdeletion, microtubules, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6zj1233t

المؤلفون: Ellingford, Jamie M.^{Aff1, Aff2, Aff3, IDs13073022010733_cor1}, Ahn, Joo Wook, Bagnall, Richard D., Baralle, Diana^{Aff6, Aff7}, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian^{Aff8, Aff9}, Duff-Farrier, Celia, FitzPatrick, David R., Greally, John M., Ingles, Jodie^{Aff13, Aff14}, Krishnan, Neesha^{Aff13, Aff14}, Lord, Jenny, Martin, Hilary C., Newman, William G.^{Aff1, Aff2}, O’Donnell-Luria, Anne^{Aff16, Aff17, Aff18}, Ramsden, Simon C., Rehm, Heidi L.^{Aff16, Aff18}, Richardson, Ebony^{Aff13, Aff14}, Singer-Berk, Moriel, Taylor, Jenny C.^{Aff19, Aff20}, Williams, Maggie, Wood, Jordan C., Wright, Caroline F., Harrison, Steven M.^{Aff16, Aff21}, Whiffin, Nicola^{Aff16, Aff20, IDs13073022010733_cor27}

المصدر: Genome Medicine. 14(1)

المؤلفون: McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James ^*, Hagelstrom, R Tanner ^*, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J ^**, Tucci, Arianna ^*

المصدر: In The Lancet Neurology March 2022 21(3):234-245

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.