المؤلفون: Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L, Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael, Brunet, Theresa, Faivre, Laurence, Sorlin, Arthur, Vitobello, Antonio, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E, Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L, Bebin, E Martina, Weisz-Hubshman, Monika, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A, Kreienkamp, Hans-Jurgen

المصدر: Willim , J , Woike , D , Greene , D , Das , S , Pfeifer , K , Yuan , W , Lindsey , A , Itani , O , Böhme , A L , Tibbe , D , Hönck , H-H , Hassani Nia , F , Zech , M , Brunet , T , Faivre , L , Sorlin , A , Vitobello , A , Smol , T , Colson , C , Baranano , K , Schatz , K , Bayat , A , Schoch , K , Spillmann , R , Davis ....

مصطلحات موضوعية: Humans, Intellectual Disability/genetics, Autistic Disorder/genetics metabolism, Aggression/physiology, Male, Female, Child, HEK293 Cells, Neurons/metabolism, Adolescent, Membrane Proteins/genetics metabolism, Adult, Animals, Preschool, Nerve Tissue Proteins/genetics metabolism, Young Adult, Synapses/metabolism, PDZ Domains/genetics

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f91ab684-fc0d-4313-98e0-312a64d5c817
https://doi.org/10.1038/s41467-024-52095-x

المؤلفون: Roychaudhury, Arkaprava, Lee, Yu‐Ri, Choi, Tae‐Ik, Thomas, Mervyn G., Khan, Tahir N., Yousaf, Hammad, Skinner, Cindy, Maconachie, Gail, Crosier, Moira, Horak, Holli, Constantinescu, Cris S., Kim, Tae‐Yoon, Lee, Kang‐Han, Kyung, Jae‐Jun, Wang, Tao, Ku, Bonsu, Chodirker, Bernard N., Hammer, Michael F., Gottlob, Irene, Norton, William H. J., Gerlai, Robert, Kim, Hyung‐Goo, Graziano, Claudio, Pippucci, Tommaso, Iovino, Emanuela, Montanari, Francesca, Severi, Giulia, Toro, Camilo, Boerkoel, Cornelius F., Cha, Hyo Sun, Choi, Cheol Yong, Kim, Sungjin, Yoon, Je‐Hyun, Gilmore, Kelly, Vora, Neeta L., Davis, Erica E., Chudley, Albert E., Schwartz, Charles E., Kim, Cheol‐Hee

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, Natural Sciences and Engineering Research Council of Canada, Ministry of Oceans and Fisheries, National Institute for Health and Care Research, National Research Foundation of Korea

المصدر: Annals of Neurology ; volume 96, issue 5, page 914-931 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.27037
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.27037

المؤلفون: Scala, Marcello, Khan, Kamal, Beneteau, Claire, Fox, Rachel G., von Hardenberg, Sandra, Khan, Ayaz, Joubert, Madeleine, Fievet, Lorraine, Musquer, Marie, Le Vaillant, Claudine, Holsclaw, Julie Korda, Lim, Derek, Berking, Ann-Cathrine, Accogli, Andrea, Giacomini, Thea, Nobili, Lino, Striano, Pasquale, Zara, Federico, Torella, Annalaura, Nigro, Vincenzo, Cogné, Benjamin, Salick, Max R., Kaykas, Ajamete, Eggan, Kevin, Capra, Valeria, Bézieau, Stéphane, Davis, Erica E., Wells, Michael F.

المساهمون: National Institute of Mental Health, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Ministero della Salute, National Institutes of Health

المصدر: Genetics in Medicine ; volume 26, issue 4, page 101057 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.101057
https://api.elsevier.com/content/article/PII:S1098360023010730?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023010730?httpAccept=text/plain

المؤلفون: Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C, Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J, 99 Lives Consortium, Cadena, Elizabeth L, Daiger, Stephen P, Bujakowska, Kinga M, Pierce, Eric A, Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M, Occelli, Laurence M, Lyons, Leslie A, Legeai-Mallet, Laurence, Sullivan, Lori S, Davis, Erica E, Isidor, Bertrand

المصدر: American journal of human genetics. 106(6)

مصطلحات موضوعية: Lives Consortium, Retina, Cilia, Animals, Zebrafish, Cats, Humans, Rhodopsin, Pedigree, Amino Acid Sequence, Larva, Heterozygote, Genes, Dominant, Phenotype, Mutation, Middle Aged, Child, Preschool, Female, Male, Photoreceptor Cells, Genome-Wide Association Study, Young Adult, Ciliopathies, Kinesins, KIF3B, feline genetics, hepatic fibrosis, kinesin, primary cilia, retinopathy, whole-exome sequencing, zebrafish, Neurosciences, Clinical Research, Genetics, Pediatric, Polycystic Kidney Disease, Eye Disease and Disorders of Vision, Congenital Structural Anomalies, Neurodegenerative, Kidney Disease, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Eye, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1gt1n1b8

المؤلفون: Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C, Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, PhD, 1974, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E, Dollfus, Hélène, Muller, Jean

المصدر: Clinical Genetics. 99(2):318-324

مصطلحات موضوعية: BBS1, Bardet-Biedl syndrome, Mobile element insertion, SVA F, founder effect

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428350
https://doi.org/10.1111/cge.13878
https://uu.diva-portal.org/smash/get/diva2:1509525/FULLTEXT01.pdf

المؤلفون: Qiu, Yuqi, Arbogast, Thomas, Lorenzo, Sandra Martin, Li, Hongying, Tang, Shih C, Richardson, Ellen, Hong, Oanh, Cho, Shawn, Shanta, Omar, Pang, Timothy, Corsello, Christina, Deutsch, Curtis K, Chevalier, Claire, Davis, Erica E, Iakoucheva, Lilia M, Herault, Yann, Katsanis, Nicholas, Messer, Karen, Sebat, Jonathan

المصدر: Cell Reports. 28(13)

مصطلحات موضوعية: Biological Sciences, Genetics, Congenital Structural Anomalies, Pediatric, Dental/Oral and Craniofacial Disease, Human Genome, 2.1 Biological and endogenous factors, Autistic Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, DNA Copy Number Variations, Female, Humans, Intellectual Disability, Male, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9sd773z9
https://escholarship.org/content/qt9sd773z9/qt9sd773z9.pdf

المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D

المصدر: American Journal of Human Genetics. 103(5)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, 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/2061z9kg

المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, 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/7rq0h7dd

المؤلفون: Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth

المصدر: nlmid: 101653440 ; essn: 2375-2548

مصطلحات موضوعية: Animals, Humans, Zebrafish, Signal Transduction, Protein Serine-Threonine Kinases, Intracellular Signaling Peptides and Proteins

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/349629

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/349629

المؤلفون: Khan, Sheraz, Focșa, Ina Ofelia, Budișteanu, Magdalena, Stoica, Cristina, Nedelea, Florina, Bohîlțea, Laurențiu, Caba, Lavinia, Butnariu, Lăcrămioara, Pânzaru, Monica, Rusu, Cristina, Jurcă, Claudia, Chirita‐Emandi, Adela, Bănescu, Claudia, Abbas, Wasim, Sadeghpour, Azita, Baig, Shahid Mahmood, Bălgrădean, Mihaela, Davis, Erica E.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Diabetes and Digestive and Kidney Diseases, Higher Education Commision, Pakistan

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 9, page 2376-2391 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63322
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63322

المؤلفون: Shashi, Vandana, Schoch, Kelly, Ganetzky, Rebecca, Kranz, Peter G., Sondheimer, Neal, Markert, M. Louise, Cope, Heidi, Sadeghpour, Azita, Roehrs, Philip, Arbogast, Thomas, Muraresku, Colleen, Tyndall, Amanda V., Esser, Michael J., Woodward, Kristine E., Ping-Yee Au, Billie, Parboosingh, Jillian S., Lamont, Ryan E., Bernier, Francois P., Wright, Nicola A.M., Benseler, Susa M., Parsons, Simon J., El-Dairi, Mays, Smith, Edward C., Valdez, Purnima, Tennison, Michael, Innes, A. Micheil, Davis, Erica E., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly

المساهمون: National Institutes of Health, Duke University, Duke University School of Medicine, Alberta Children's Hospital Foundation

المصدر: Genetics in Medicine ; volume 25, issue 9, page 100897 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.100897
https://api.elsevier.com/content/article/PII:S1098360023009103?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009103?httpAccept=text/plain

المؤلفون: Hutson, Mary R, Keyte, Anna L, Hernández-Morales, Miriam, Gibbs, Eric, Kupchinsky, Zachary A, Argyridis, Ioannis, Erwin, Kyle N, Pegram, Kelly, Kneifel, Margaret, Rosenberg, Paul B, Matak, Pavle, Xie, Luke, Grandl, Jörg, Davis, Erica E, Katsanis, Nicholas, Liu, Chunlei, Benner, Eric J

المصدر: Science Signaling. 10(500)

مصطلحات موضوعية: Stem Cell Research, Pediatric, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Animals, Chick Embryo, Chickens, Congenital Abnormalities, Female, Fever, Heart Failure, Maternal-Fetal Exchange, Mice, Mice, Inbred C57BL, Neural Crest, Pregnancy, TRPV Cation Channels, Zebrafish, Biochemistry and Cell Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hj2z00d

المؤلفون: Yang, Shu, Zhang, Li, Khan, Kamal, Travers, Jameson, Huang, Ruili, Jovanovic, Vukasin M, Veeramachaneni, Rithvik, Sakamuru, Srilatha, Tristan, Carlos A, Davis, Erica E, Klumpp-Thomas, Carleen, Witt, Kristine L, Simeonov, Anton, Shaw, Natalie D, Xia, Menghang

المصدر: Endocrinology; Oct2024, Vol. 165 Issue 10, p1-14, 14p

مصطلحات موضوعية: CHEMICAL libraries, LUTEINIZING hormone releasing hormone receptors, BINDING sites, MOLECULAR docking, GONADOTROPIN releasing hormone, METHACHOLINE chloride

المؤلفون: de Oliveira, Vanessa Cristina, Santos Roballo, Kelly Cristine, Mariano Junior, Clesio Gomes, Santos, Sarah Ingrid Pinto, Bressan, Fabiana Fernandes, Chiaratti, Marcos Roberto, Tucker, Elena J., Davis, Erica E., Concordet, Jean-Paul, Ambrosio, Carlos Eduardo

مصطلحات موضوعية: CRISPR-Cas9, gene editing, HEK293T cells, mitochondrial DNA, TFAM

وصف الملف: application/pdf

Relation: 22; http://hdl.handle.net/10919/111618; https://doi.org/10.3390/life12010022; 12

الاتاحة: http://hdl.handle.net/10919/111618
https://doi.org/10.3390/life12010022

المؤلفون: Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R, Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á, Chupp, Sharon, Mathew, Christopher G, Parry, David, Simpson, Michael A, Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W, Stegmann, Alexander P A, Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T R M, Taylor, Alexander M R, Jackson, Andrew P, Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E, Stewart, Grant S

المصدر: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs , M R , Natsume , T , Khan , T , Martos-Moreno , G Á , Chupp , S , Mathew , C G , Parry , D , Simpson , M A , Nahavandi , N ....

مصطلحات موضوعية: Humans, Cell Cycle Proteins/genetics, Microcephaly/genetics, DNA Repair/genetics, Chromosomes/metabolism, Genomic Instability, DNA-Binding Proteins/metabolism, Ubiquitin-Protein Ligases/metabolism, Chromosomal Proteins, Non-Histone/metabolism

Relation: https://cris.maastrichtuniversity.nl/en/publications/d25cbc54-c6a3-46e2-bcc9-fb0afe819ff4

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d25cbc54-c6a3-46e2-bcc9-fb0afe819ff4
https://doi.org/10.1038/s41467-022-34349-8

المؤلفون: Collins, Ryan L., Glessner, Joseph T., Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morley, Theodore, Niestroj, Lisa-Marie, Ulirsch, Jacob, Everett, Selin, Howrigan, Daniel P., Boone, Philip M., Fu, Jack, Karczewski, Konrad J., Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Nõukas, Margit, Nuttle, Xander, Samocha, Kaitlin E., Trinh, Mi, Ullah, Farid, Võsa, Urmo, Hurles, Matthew E., Aradhya, Swaroop, Davis, Erica E., Finucane, Hilary, Gusella, James F., Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin M., Sanders, David, Warren, Stephanie, Hodge, Jennelle C., Lal, Dennis, Ruderfer, Douglas M., Meck, Jeanne, Mägi, Reedik, Esko, Tõnu, Reymond, Alexandre, Kutalik, Zoltán, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael E., Metspalu, Andres

المصدر: Cell ; volume 185, issue 16, page 3041-3055.e25 ; ISSN 0092-8674

الاتاحة: http://dx.doi.org/10.1016/j.cell.2022.06.036
https://api.elsevier.com/content/article/PII:S0092867422007887?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0092867422007887?httpAccept=text/plain

المؤلفون: Afridi, Tehseen Ullah Khan, Fatima, Ambrin, Satti, Humayoon Shafique, Akram, Zaineb, Yousafzai, Imran Khan, Naeem, Wajahat Bin, Fatima, Nasreen, Ali, Asmat, Iqbal, Zafar, Khan, Ayaz, Shahzad, Muhammad, Liu, Chunyu, Toft, Mathias, Zhang, Feng, Tariq, Muhammad, Davis, Erica E., Khan, Tahir N.

المساهمون: Higher Education Commision, Pakistan

المصدر: Molecular Genetics and Genomics ; volume 299, issue 1 ; ISSN 1617-4615 1617-4623

الاتاحة: http://dx.doi.org/10.1007/s00438-024-02149-y
https://link.springer.com/content/pdf/10.1007/s00438-024-02149-y.pdf
https://link.springer.com/article/10.1007/s00438-024-02149-y/fulltext.html

المؤلفون: Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harris, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A, Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, Mays, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nicholas, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E, Copeland, William C, Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nicholas, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio

المساهمون: Del Dotto, Valentina, Ullah, Farid, Di Meo, Ivano, Magini, Pamela, Gusic, Mirjana, Maresca, Alessandra, Caporali, Leonardo, Palombo, Flavia, Tagliavini, Francesca, Baugh, Evan Harri, Macao, Bertil, Szilagyi, Zsolt, Peron, Camille, Gustafson, Margaret A, Khan, Kamal, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Valentino, Maria Lucia, Liguori, Rocco, Shashi, Vandana, Sullivan, Jennifer, Nagaraj, Shashi, El-Dairi, May, Iannaccone, Alessandro, Cutcutache, Ioana, Bertini, Enrico, Carrozzo, Rosalba, Emma, Francesco, Diomedi-Camassei, Francesca, Zanna, Claudia, Armstrong, Martin, Page, Matthew, Stong, Nichola, Boesch, Sylvia, Kopajtich, Robert, Wortmann, Saskia, Sperl, Wolfgang, Davis, Erica E, Copeland, William C, Seri, Marco, Falkenberg, Maria, Prokisch, Holger, Katsanis, Nichola, Tiranti, Valeria, Pippucci, Tommaso, Carelli, Valerio

مصطلحات موضوعية: Bioenergetic, Genetic disease, Genetic, Mitochondria, Ophthalmology

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31550240; info:eu-repo/semantics/altIdentifier/wos/WOS:000505205000020; volume:130; issue:1; firstpage:108; lastpage:125; numberofpages:18; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11585/736136; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077402068; https://www.jci.org/articles/view/128514

الاتاحة: https://hdl.handle.net/11585/736136
https://doi.org/10.1172/JCI128514
https://www.jci.org/articles/view/128514

المؤلفون: Chen, Chuyi, Gu, Yuyang, Philippe, Julien, Zhang, Peiran, Bachman, Hunter, Zhang, Jinxin, Mai, John, Rufo, Joseph, Rawls, John F., Davis, Erica E., Katsanis, Nicholas, Huang, Tony Jun

المساهمون: Foundation for the National Institutes of Health, National Science Foundation

المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-021-21373-3
https://www.nature.com/articles/s41467-021-21373-3.pdf
https://www.nature.com/articles/s41467-021-21373-3

المؤلفون: Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 929-941 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.03.017
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/plain