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1دورية أكاديمية
المؤلفون: Thorpe, Erin, Duenas-Roque, Milagros, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Purizaca-Rosillo, Nelson, Rodriguez, Richard, Milla-Neyra, Karina, De La Torre-Hernandez, Carlos, Sarapura-Castro, Elison, Aima, Carolina Galarreta, Manassero-Morales, Gioconda, Chávez-Pasco, Giulliana, Celis-García, Luis, La Serna, Jorge, Taft, Ryan
المصدر: Genetics in Medicine Open ; volume 2, page 101530 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101530Test
https://api.elsevier.com/content/article/PII:S2949774424006769?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424006769?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Bazalar-Montoya, Jeny, Rodriguez, Richard, Chávez-Pasco, Giulliana, Martínez-Esteban, Peggy, Rajkumar, Revathi, Kesari, Akanchha, Brown, Carolyn, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda
المصدر: Genetics in Medicine Open ; volume 2, page 101306 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101306Test
https://api.elsevier.com/content/article/PII:S2949774424004527?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004527?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Chávez-Pasco, Giulliana, Bazalar-Montoya, Jeny, Suarez, Cecilia Bonilla, Bluske, Krista, Strom, Samuel, Malhotra, Alka, Milewski, Becky, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda
المصدر: Genetics in Medicine Open ; volume 2, page 101262 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101262Test
https://api.elsevier.com/content/article/PII:S2949774424004084?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004084?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Sun, Jia-Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
المصدر: PLOS Genetics. 17(6)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Animals, Cerebellum, Child, Preschool, Egg Proteins, Female, Gain of Function Mutation, Gene Expression, HEK293 Cells, Hippocampus, Humans, Membrane Proteins, Mice, Mice, Inbred ICR, Models, Molecular, Neurons, Primary Cell Culture, Protein Conformation, Receptors, AMPA, Sequence Alignment, Sequence Homology, Amino Acid, Spasms, Infantile, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1v56z4bnTest
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5دورية أكاديمية
المؤلفون: Scocchia, Alicia, Wigby, Kristen M, Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I, Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S, Rajan, Vani, Perry, Denise L, Belmont, John W, Bentley, David R, Jones, Marilyn C, Taft, Ryan J
المصدر: npj Genomic Medicine. 4(1)
مصطلحات موضوعية: Clinical Research, Pediatric, Human Genome, Genetic Testing, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, Good Health and Well Being, ICSL Interpretation and Reporting Team
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3q15p0q1Test
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6دورية 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 -
7دورية أكاديمية
المؤلفون: Thomas, Brittany, Kesari, Akanchha, Lumaka, Aime, Cornejo-Olivas, Mario, Ward, David, Jayakar, Parul, Basel, Donald, Jones, Marilyn, Thorpe, Erin, Perry, Denise, Taft, Ryan
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100619 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100619Test
https://api.elsevier.com/content/article/PII:S2949774423006192?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423006192?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Taft, Ryan, Thorpe, Erin, Belmont, John, Williams, Taylor, Shaw, Chad, Button, Jason, Ortega, Julia, Robinson, Keisha, Jones, Marilyn, Masser-Frye, Diane, Basel, Donald, Brown, Chester, Vaux, Keith, Lumaka, Aime, Sirchia, Fabio, Roque, Milagros Dueñas, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Urraca, Nora, Salguero, Alejandra, Wiafe, Samuel, Foster-Bonds, Romina, Royer, Erin, Gallas, Michelle, Magoulas, Pilar, Vanderver, Adeline, Shinawi, Marwan, Taylor, Alan, Fishler, Kristen, Henry, Duncan, Salyakina, Daria, Gibson, Kate, Lah, Melissa, Malhotra, Alka, Avecilla, James, Warren, Andrew, Perry, Denise, Arseneault, Max
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100464 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100464Test
https://api.elsevier.com/content/article/PII:S2949774423004648?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423004648?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Thorpe, Erin M., Kalafatis, Michael, Xu, Yan
المساهمون: Cleveland State University
المصدر: Genes & Diseases ; volume 10, issue 6, page 2229-2232 ; ISSN 2352-3042
مصطلحات موضوعية: Cell Biology, Genetics (clinical), Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1016/j.gendis.2023.02.022Test
https://api.elsevier.com/content/article/PII:S2352304223000740?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352304223000740?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin
المصدر: Cell Genomics ; volume 3, issue 2, page 100258 ; ISSN 2666-979X
مصطلحات موضوعية: Genetics, Biochemistry, Genetics and Molecular Biology (miscellaneous)
الإتاحة: https://doi.org/10.1016/j.xgen.2023.100258Test
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/plainTest