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1دورية أكاديمية
المؤلفون: Szakszon, Katalin, Lourenco, Charles Marques, Callewaert, Bert Louis, Geneviève, David, Rouxel, Flavien, Morin, Denis, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Patterson, Wesley G, Louie, Raymond, Pinto e Vairo, Filippo, Klee, Eric, Kaiwar, Charu, Gavrilova, Ralitza H, Agre, Katherine E, Jacquemont, Sebastien, Khadijé, Jizi, Giltay, Jacques, van Gassen, Koen, Mero, Gabriella, Gerkes, Erica, Van Bon, Bregje W, Rinne, Tuula, Pfundt, Rolph, Brunner, Han G, Caluseriu, Oana, Grasshoff, Ute, Kehrer, Martin, Haack, Tobias B, Khelifa, Melik Malek, Bergmann, Anke Katharina, Cueto-González, Anna Maria, Martorell, Ariadna Campos, Ramachandrappa, Shwetha, Sawyer, Lindsey B, Fasel, Pascale, Braun, Dominique, Isis, Atallah, Superti-Furga, Andrea, McNiven, Vanda, Chitayat, David, Ahmed, Syed Anas, Brennenstuhl, Heiko, Schwaibolf, Eva MC, Battisti, Gladys, Parmentier, Benoit, Stevens, Servi J C
مصطلحات موضوعية: Genotype-phenotype correlations
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/61/2/132Test; http://dx.doi.org/10.1136/jmg-2022-109030Test
الإتاحة: https://doi.org/10.1136/jmg-2022-109030Test
http://jmg.bmj.com/cgi/content/short/61/2/132Test -
2دورية أكاديمية
المؤلفون: Higginbotham, Edward, Lau, Lynette, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey, Sung, Wilson, Moran, Olivia, Hasnain, Afia, Stavropoulos, Dimitri, Bergeron, Melanie Beaulieu, Boycott, Kym, McNiven, Vanda, Chun, Kathy
المصدر: Genetics in Medicine Open ; volume 2, page 101644 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101644Test
https://api.elsevier.com/content/article/PII:S2949774424007908?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007908?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Dupuis, Lucie, Szuto, Anna, Marshall, Christian, Kyriakopoulou, Lianna, Mendoza-Londono, Roberto, McNiven, Vanda
المصدر: Genetics in Medicine Open ; volume 2, page 101282 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101282Test
https://api.elsevier.com/content/article/PII:S294977442400428X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442400428X?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Ambrose, Anastasia, McNiven, Vanda, Wilson, Diane, Schulze, Andreas, Chau, Vann, Andrews, Saadet
المصدر: Genetics in Medicine Open ; volume 2, page 101186 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101186Test
https://api.elsevier.com/content/article/PII:S2949774424003327?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424003327?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe, Pedersen, Miriam, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa, Sully, Krystal, Murali, Chaya, Burrage, Lindsay, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, Mcniven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Zeev, Bruria Ben, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes, Shi, Yun Stone, Kristensen, Anders
المساهمون: Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut du Thorax Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Laboratoires de neurosciences intégratives et cliniques (EA 481), Université Bourgogne Franche-Comté COMUE (UBFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Pathophysiologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), University of Copenhagen = Københavns Universitet (UCPH), AB (Allan Bayat) is funded by Novo Nordisk Foundation BRIDGE Programme (NNF20SA0064340). JHS (Jia-Hui Sun) is supported by the National Natural ScienceFoundation of China (32200779). The research conducted at the Murdoch Children's Research Institute (MCRI) was supported by the Victorian Government's Operational InfrastructureSupport Program. The Royal Children’s Hospital Foundation generously supports the Chair in Genomic Medicine awarded to JC. LCB (Lindsay Catherine Burrage) is supported by NIH (5U54OD030165). YSS (Yun Stone Shi) is supported by the National Key R & D Program of China (2019YFA0801603), the National Natural Science Foundation of China (32170951), the Fundamental Research Funds for the Central Universities (021414380533) and Special Fund for Science and Technology Innovation Strategy of Guangdong Province (2021B0909050004). ASK (Anders Skov Kristensen) is supported by Independent Research Fund Denmark (3101-00386B).
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: AMPA receptor, GRIA, GRIA3, clinical biomarker, genotype-phenotype, [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38038360; hal-04386909; https://univ-rennes.hal.science/hal-04386909Test; https://univ-rennes.hal.science/hal-04386909/documentTest; https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest; PUBMED: 38038360
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://univ-rennes.hal.science/hal-04386909Test
https://univ-rennes.hal.science/hal-04386909/documentTest
https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest -
6دورية أكاديمية
المؤلفون: Di Luca, Daniel G., Wubuli, Dilinuer, McNiven, Vanda, Lang, Anthony E.
المصدر: Movement Disorders Clinical Practice ; volume 10, issue 4, page 710-712 ; ISSN 2330-1619 2330-1619
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7دورية أكاديمية
المؤلفون: Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K, Price, E Magda, Graham, Ian D, White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K, Brady, Lauren, Hui, Angela Y, Andrews, Joseph D, Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U, Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L, Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J, Balci, Tugce B, Armour, Christine M, Bhola, Priya T, Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B, Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R, Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y, Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M, Hayeems, Robin
المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:2
مصطلحات موضوعية: Clinical validity, Exome sequencing, Health care system, Implementation science, Rare disease
العلاقة: https://doi.org/10.1016/j.gim.2023.101012Test; https://pubmed.ncbi.nlm.nih.gov/37924259Test
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8دورية أكاديمية
المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G., Sun, Jia Hui, Ge, Yu Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H., Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M., Pedersen, Miriam G., Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T., Sully, Krystal, Murali, Chaya N., Burrage, Lindsay C., Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, McNiven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Ben-Zeev, Bruria, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S., Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R., Shi, Yun Stone, Kristensen, Anders S.
المصدر: Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J H , Ge , Y H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N ....
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://pure.eur.nl/en/publications/d8f07fae-d289-416a-95eb-d6afb33abf5eTest
http://www.scopus.com/inward/record.url?scp=85192220050&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P, Bjornsson, Hans T, Harris, Jacqueline, Dyment, David A, Graham, Gail E, Nezarati, Marjan M, Aul, Ritu B, Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S, Alsaif, Hessa S, Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C, Shashi, Vandana, Sanchez-Lara, Pedro A, Graham, John M, Roberts, Amy, Chorin, Odelia, Evrony, Gilad D, Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A, Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A Micheil, Kline, Antonie D, Au, PY Billie, Weksberg, Rosanna
مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, epigenetics, episignature, neurodevelopmental disorder, Abnormalities, Multiple, Chromatin, DNA Methylation, Epigenesis, Genetic, Face, Hematologic Diseases, Heterogeneous-Nuclear Ribonucleoprotein K, Humans, Intellectual Disability, Phenotype, Vestibular Diseases
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Hayeems, Robin Z., Luca, Stephanie, Ungar, Wendy J., Venkataramanan, Viji, Tsiplova, Kate, Bashir, Naazish S., Costain, Gregory, Inglese, Cara, McNiven, Vanda, Quercia, Nada, Shugar, Andrea, Yoon, Grace, Cytrynbaum, Cheryl, Dupuis, Lucie, Shao, Zhuo, Hewson, Stacy, Shuman, Cheryl, Aul, Ritu, Liston, Eriskay, Babul-Hirji, Riyana, Bushby, Alexandra, Pullenayegum, Eleanor, Chad, Lauren, Meyn, M. Stephen
المساهمون: Canadian Institutes of Health Research
المصدر: Genetics in Medicine ; volume 24, issue 2, page 430-438 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2021.10.005Test
https://api.elsevier.com/content/article/PII:S1098360021053557?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021053557?httpAccept=text/plainTest