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1دورية أكاديمية
المؤلفون: Caron, Véronique, Chassaing, Nicolas, Ragge, Nicola, Boschann, Felix, Ngu, Angelina My-Hoa, Meloche, Elisabeth, Chorfi, Sarah, Lakhani, Saquib A, Ji, Weizhen, Steiner, Laurie, Marcadier, Julien, Jansen, Philip R, van de Pol, Laura A, van Hagen, Johanna M, Russi, Alvaro Serrano, Le Guyader, Gwenaël, Nordenskjöld, Magnus, Nordgren, Ann, Anderlid, Britt-Marie, Plaisancié, Julie, Stoltenburg, Corinna, Horn, Denise, Drenckhahn, Anne, Hamdan, Fadi F, Lefebvre, Mathilde, Attie-Bitach, Tania, Forey, Peggy, Smirnov, Vasily, Ernould, Françoise, Jacquemont, Marie-Line, Grotto, Sarah, Alcantud, Alberto, Coret, Alicia, Ferrer-Avargues, Rosario, Srivastava, Siddharth, Vincent-Delorme, Catherine, Romoser, Shelby, Safina, Nicole, Saade, Dimah, Lupski, James R, Calame, Daniel G, Geneviève, David, Chatron, Nicolas, Schluth-Bolard, Caroline, Myers, Kenneth A, Dobyns, William B, Calvas, Patrick, Study, The DDD, Salmon, Caroline, Holt, Richard, Elmslie, Frances, Allaire, Marc, Prigozhin, Daniil M, Tremblay, André, Michaud, Jacques L
المصدر: Genetics in Medicine. 25(8)
مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Humans, Receptors, Retinoic Acid, Retinoids, Microphthalmos, DDD Study, Dystonia, Global developmental delay, Microphthalmia, Retinoic acid, Retinoic acid receptor beta, Clinical Sciences, Genetics & Heredity
الوصول الحر: https://escholarship.org/uc/item/30t610jxTest
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2دورية أكاديمية
المؤلفون: Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Banka, Siddharth, Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E., Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., Lakhani, Saquib A., Borras, Silvia
المساهمون: NIH, Hartwell Foundation, Wellcome Trust, Horizon 2020, National Institute for Health Research, Cancer Research UK, Epilepsy Society
المصدر: Genetics in Medicine ; volume 26, issue 2, page 101023 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2023.101023Test
https://api.elsevier.com/content/article/PII:S1098360023010390?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010390?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent
المصدر: European Journal of Human Genetics. 29(9)
مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Digestive Diseases, Liver Disease, Brain Disorders, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3jk59196Test
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4دورية أكاديمية
المؤلفون: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F.
المصدر: Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4Test
https://pure.eur.nl/ws/files/87092930/Mechanism_of_KMT5B_haploinsufficiency_in_neurodevelopment_in_humans_and_mice.pdfTest
http://www.scopus.com/inward/record.url?scp=85150009253&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: de Boer, Elke, Ockeloen, Charlotte W, Kampen, Rosalie A, Hampstead, Juliet E, Dingemans, Alexander J M, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A C, Helm, Benjamin M, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A, Mathijssen, Irene M J, McGowan, Ruth, Monaghan, Kristin G, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W E, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J, Stegmann, Alexander P A, Swagemakers, Sigrid M A, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M, Wéber, Mathys, Gilissen, Christian, Low, Karen J, Fisher, Simon E, Vissers, Lisenka E L M, Wong, Maggie M K, Kleefstra, Tjitske
المصدر: de Boer , E , Ockeloen , C W , Kampen , R A , Hampstead , J E , Dingemans , A J M , Rots , D , Lütje , L , Ashraf , T , Baker , R , Barat-Houari , M , Angle , B , Chatron , N , Denommé-Pichon , A-S , Devinsky , O , Dubourg , C , Elmslie , F , Elloumi , H Z , Faivre , L , Fitzgerald-Butt , S , Geneviève , D , Goos , J A C , Helm , B M , Kini ....
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/a6b6fb35-3a62-45e5-8dcb-13d03a86fcf8Test
الإتاحة: https://doi.org/10.1016/j.gim.2023.100962Test
https://cris.maastrichtuniversity.nl/en/publications/a6b6fb35-3a62-45e5-8dcb-13d03a86fcf8Test -
6دورية أكاديمية
المؤلفون: Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G, Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J, Kuechler, Alma, Busk, Øyvind L, Islam, Lily, Siedlik, Jacob A, Henderson, Lindsay B, Juusola, Jane, Person, Richard, Schnur, Rhonda E, Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J, Stessman, Holly A F
المصدر: Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; . (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://boris.unibe.ch/179893Test/
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7دورية أكاديمية
المؤلفون: Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K, Dabir, Tabib, Morrison, Patrick J, Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw-Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E, Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E, Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman-Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander JM, Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D, Genomics England Research Consortium, Becker, Esther BE, Németh, Andrea H
المصدر: Movement Disorders (2023) (In press).
مصطلحات موضوعية: Gillespie syndrome, IP3R1, ITPR1, cerebellum, next-generation sequencing, spinocerebellar ataxia type 29
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181855Test/
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8دورية أكاديمية
المؤلفون: Monahan, Kevin J, Ryan, Neil, Monje-Garcia, Laura, Armstrong, Ruth, Church, David N, Cook, Jackie, Elghobashy, Alaa, Lalloo, Fiona, Lane, Sally, McDermott, Frank D, Miles, Tracie, Hardy, Steven A, Tyson, Adele, Wang, Valerie Ya Wen, Kim, Anna, Gelinas, Simone, Faravelli, Francesca, Elmslie, Frances, Shaw, Adam C
المساهمون: Cancer Research UK, 40tude, NHS England
المصدر: BMJ Oncology ; volume 2, issue 1, page e000124 ; ISSN 2752-7948
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9دورية أكاديمية
المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
المصدر: Genetics in Medicine ; volume 25, issue 11, page 100962 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2023.100962Test
https://api.elsevier.com/content/article/PII:S1098360023009784?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023009784?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo
المساهمون: Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isi, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, France, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo
مصطلحات موضوعية: congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder, DHDDS
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34382076; volume:145; issue:1; firstpage:208; lastpage:223; numberofpages:16; journal:BRAIN; http://hdl.handle.net/2318/1808625Test