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1Academic Journal
المؤلفون: Cable, Jennifer, Purcell, Ryan H, Robinson, Elise, Vorstman, Jacob AS, Chung, Wendy K, Constantino, John N, Sanders, Stephan J, Sahin, Mustafa, Dolmetsch, Ricardo E, Shah, Bina Maniar, Thurm, Audrey, Martin, Christa L, Bearden, Carrie E, Mulle, Jennifer G
المصدر: Annals of the New York Academy of Sciences. 1506(1)
مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Mental Health, Neurosciences, Schizophrenia, Behavioral and Social Science, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Congresses as Topic, Genetic Variation, Humans, Mental Disorders, Neurodevelopmental Disorders, Penetrance, Research Report, autism, autism heterogeneity, autism spectrum disorder, copy number variant, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, polygenic risk score, rare variants, schizophrenia, 3q29 deletion, TSC, 16p11, deletion, 22q11, 16p11.2 deletion, 22q11.2 deletion, General Science & Technology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0gx8f83g
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2Academic Journal
المؤلفون: Khan, Themasap A, Revah, Omer, Gordon, Aaron, Yoon, Se-Jin, Krawisz, Anna K, Goold, Carleton, Sun, Yishan, Kim, Chul Hoon, Tian, Yuan, Li, Min-Yin, Schaepe, Julia M, Ikeda, Kazuya, Amin, Neal D, Sakai, Noriaki, Yazawa, Masayuki, Kushan, Leila, Nishino, Seiji, Porteus, Matthew H, Rapoport, Judith L, Bernstein, Jonathan A, O’Hara, Ruth, Bearden, Carrie E, Hallmayer, Joachim F, Huguenard, John R, Geschwind, Daniel H, Dolmetsch, Ricardo E, Paşca, Sergiu P
المصدر: Nature Medicine. 26(12)
مصطلحات موضوعية: Stem Cell Research - Induced Pluripotent Stem Cell - Human, Mental Health, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research, Pediatric, Genetics, Stem Cell Research - Nonembryonic - Human, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Congenital, Neurological, Adult, Calcium Signaling, Cell Differentiation, Cerebral Cortex, DiGeorge Syndrome, Female, Humans, Induced Pluripotent Stem Cells, Male, Neurons, Organoids, Young Adult, Medical and Health Sciences, Immunology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9dn604d3
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3Academic Journal
المؤلفون: Leebeek, Frank, von Drygalski, Annette, Gomez, Esteban, Giermasz, Adam, Castaman, Giancarlo, Key, Nigel S., Lattimore, Susan U., Miesbach, Wolfgang, Recht, Michael P., Gut, Robert, Dolmetsch, Ricardo E., Monahan, Paul E., Le Quellec, Sandra, Pipe, Steven W.
المصدر: Leebeek , F , von Drygalski , A , Gomez , E , Giermasz , A , Castaman , G , Key , N S , Lattimore , S U , Miesbach , W , Recht , M P , Gut , R , Dolmetsch , R E , Monahan , P E , Le Quellec , S & Pipe , S W 2023 , ' Stable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy ' , Blood advances , vol. 7 , no. 19 , pp. 5671-5679 . ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Pipe, Steven W., Leebeek, Frank W.G., Recht, Michael, Key, Nigel S., Castaman, Giancarlo, Miesbach, Wolfgang, Lattimore, Susan, Peerlinck, Kathelijne, Van Der Valk, Paul, Coppens, Michiel, Kampmann, Peter, Meijer, Karina, O'connell, Niamh, Pasi, K. John, Hart, Daniel P., Kazmi, Rashid, Astermark, Jan, Hermans, Cedric R.J.R., Klamroth, Robert, Lemons, Richard, Visweshwar, Nathan, Von Drygalski, Annette, Young, Guy, Crary, Shelley E., Escobar, Miguel, Gomez, Esteban, Kruse-Jarres, Rebecca, Quon, Doris V., Symington, Emily, Wang, Michael, Wheeler, Allison P., Gut, Robert, Liu, Ying P., Dolmetsch, Ricardo E., Cooper, David L., Li, Yanyan, Goldstein, Brahm, Monahan, Paul E.
المصدر: Pipe , S W , Leebeek , F W G , Recht , M , Key , N S , Castaman , G , Miesbach , W , Lattimore , S , Peerlinck , K , Van Der Valk , P , Coppens , M , Kampmann , P , Meijer , K , O'connell , N , Pasi , K J , Hart , D P , Kazmi , R , Astermark , J , Hermans , C R J R , Klamroth , R , Lemons , R , Visweshwar , N , Von Drygalski , A ....
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5Academic Journal
المؤلفون: Kostic, Milos, Raymond, Joseph J., Freyre, Christophe A. C., Henry, Beata, Tumkaya, Tayfun, Khlghatyan, Jivan, Dvornik, Jill, Li, Jingyao, Hsiao, Jack S., Cheon, Seon Hye, Chung, Jonathan, Sun, Yishan, Dolmetsch, Ricardo E., Worringer, Kathleen A., Ihry, Robert J.
المساهمون: Novartis Institutes for BioMedical Research
المصدر: ACS Chemical Neuroscience ; volume 14, issue 22, page 3993-4012 ; ISSN 1948-7193 1948-7193
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6Academic Journal
المؤلفون: Yang, Mu, Mahrt, Elena J, Lewis, Freeman, Foley, Gillian, Portmann, Thomas, Dolmetsch, Ricardo E, Portfors, Christine V, Crawley, Jacqueline N
المصدر: Autism Research. 8(5)
مصطلحات موضوعية: Brain Disorders, Basic Behavioral and Social Science, Autism, Behavioral and Social Science, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Animals, Autistic Disorder, Behavior, Animal, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, Disease Models, Animal, Intellectual Disability, Male, Mice, Social Behavior, Vocalization, Animal, mouse model of autism, 16p11.2 deletion, ultrasonic vocalization, social Interaction, autism, Clinical Sciences, Psychology, Developmental & Child Psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5609p7dt
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7Academic Journal
المؤلفون: Tian, Yuan, Voineagu, Irina, Paşca, Sergiu P, Won, Hyejung, Chandran, Vijayendran, Horvath, Steve, Dolmetsch, Ricardo E, Geschwind, Daniel H
المصدر: Genome Medicine. 6(10)
مصطلحات موضوعية: Brain Disorders, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Mental Health, Autism, Genetics, Pediatric, Human Genome, Neurosciences, Stem Cell Research, 1.1 Normal biological development and functioning, Underpinning research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Clinical Sciences
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Wang, I-Ning E, Wang, Xiang, Ge, Xiaohu, Anderson, Joshua, Ho, Michael, Ashley, Euan, Liu, Jianwei, Butte, Manish J, Yazawa, Masayuki, Dolmetsch, Ricardo E, Quertermous, Thomas, Yang, Phillip C
المصدر: PloS one. 7(6)
مصطلحات موضوعية: Cell Line, Myocytes, Cardiac, Animals, Humans, Mice, Actins, Activins, Intercellular Signaling Peptides and Proteins, Fibroblast Growth Factor 2, Troponin T, Connexin 43, Cell Differentiation, Gene Expression Regulation, Myocardial Contraction, Embryonic Stem Cells, Bone Morphogenetic Protein 4, Embryoid Bodies, Myocytes, Cardiac, General Science & Technology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1sw5j5g6
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9Academic Journal
المؤلفون: Paşca, Sergiu P, Portmann, Thomas, Voineagu, Irina, Yazawa, Masayuki, Shcheglovitov, Aleksandr, Paşca, Anca M, Cord, Branden, Palmer, Theo D, Chikahisa, Sachiko, Nishino, Seiji, Bernstein, Jonathan A, Hallmayer, Joachim, Geschwind, Daniel H, Dolmetsch, Ricardo E
المصدر: Nature Medicine. 17(12)
مصطلحات موضوعية: Neurosciences, Brain Disorders, Rare Diseases, Orphan Drug, Mental Health, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Induced Pluripotent Stem Cell - Human, Pediatric, Autism, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Autistic Disorder, Calcium Channels, L-Type, Calcium Signaling, Cell Differentiation, Cell Line, Dopamine, Gene Expression Regulation, Humans, Induced Pluripotent Stem Cells, Long QT Syndrome, Microarray Analysis, Neurons, Norepinephrine, Phenotype, Purines, Roscovitine, Syndactyly, Tyrosine 3-Monooxygenase, Medical and Health Sciences, Immunology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6kj514gz
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10Academic Journal
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2002 Nov 01. 99(23), 15142-15147.
URL الوصول: https://www.jstor.org/stable/3073731
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11Academic Journal
المؤلفون: Dolmetsch, Ricardo E., Pajvani, Urvi, Fife, Katherine, Spotts, James M., Greenberg, Michael E.
المصدر: Science, 2001 Oct 01. 294(5541), 333-339.
URL الوصول: https://www.jstor.org/stable/3084835
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12Academic Journal
المؤلفون: West, Anne E., Chen, Wen G., Dalva, Matthew B., Dolmetsch, Ricardo E., Kornhauser, Jon M., Shaywitz, Adam J., Takasu, Mari A., Tao, Xu, Greenberg, Michael E.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2001 Sep . 98(20), 11024-11031.
URL الوصول: https://www.jstor.org/stable/3056662
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13Academic Journal
المؤلفون: Roth, Julien G, Muench, Kristin L, Asokan, Aditya, Mallett, Victoria M, Gai, Hui, Verma, Yogendra, Weber, Stephen, Charlton, Carol, Fowler, Jonas L, Loh, Kyle M, Dolmetsch, Ricardo E, Palmer, Theo D
المساهمون: National Institute of Mental Health, Simons Foundation
المصدر: eLife ; volume 9 ; ISSN 2050-084X
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14Academic Journal
المؤلفون: Bidinosti, Michael, Botta, Paolo, Krüttner, Sebastian, Proenca, Catia C., Stoehr, Natacha, Bernhard, Mario, Fruh, Isabelle, Mueller, Matthias, Bonenfant, Debora, Voshol, Hans, Carbone, Walter, Neal, Sarah J., McTighe, Stephanie M., Roma, Guglielmo, Dolmetsch, Ricardo E., Porter, Jeffrey A., Caroni, Pico, Bouwmeester, Tewis, Lüthi, Andreas, Galimberti, Ivan
المصدر: Science, 2016 Mar 01. 351(6278), 1199-1203.
URL الوصول: http://www.jstor.org/stable/24743192
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15Electronic Resource
المؤلفون: Poli Van Creveldkliniek Medisch, Pipe, Steven W, Leebeek, Frank W G, Recht, Michael, Key, Nigel S, Castaman, Giancarlo, Miesbach, Wolfgang, Lattimore, Susan, Peerlinck, Kathelijne, Van der Valk, Paul, Coppens, Michiel, Kampmann, Peter, Meijer, Karina, O'Connell, Niamh, Pasi, K John, Hart, Daniel P, Kazmi, Rashid, Astermark, Jan, Hermans, Cedric R J R, Klamroth, Robert, Lemons, Richard, Visweshwar, Nathan, von Drygalski, Annette, Young, Guy, Crary, Shelley E, Escobar, Miguel, Gomez, Esteban, Kruse-Jarres, Rebecca, Quon, Doris V, Symington, Emily, Wang, Michael, Wheeler, Allison P, Gut, Robert, Liu, Ying P, Dolmetsch, Ricardo E, Cooper, David L, Li, Yanyan, Goldstein, Brahm, Monahan, Paul E
URL:
https://doi.org/10.1056/NEJMoa2211644 http://hdl.handle.net/1874/448654 http://www.scopus.com/inward/record.url?scp=85149659290&partnerID=8YFLogxK
0028-4793
The New England journal of medicine
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8
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16Academic Journal
المؤلفون: Panagiotakos, Georgia, Haveles, Christos, Arjun, Arpana, Petrova, Ralitsa, Rana, Anshul, Portmann, Thomas, Paşca, Sergiu P, Palmer, Theo D, Dolmetsch, Ricardo E
المساهمون: National Institutes of Health, Stanford University School of Medicine, University of California, San Francisco, Howard Hughes Medical Institute, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Brain and Behavior Research Foundation, Simons Foundation, Blume Foundation
المصدر: eLife ; volume 8 ; ISSN 2050-084X
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17Academic Journal
المؤلفون: Pipe, Steven W, Leebeek, Frank W G, Recht, Michael, Key, Nigel S, Castaman, Giancarlo, Miesbach, Wolfgang, Lattimore, Susan, Peerlinck, Kathelijne, Van der Valk, Paul, Coppens, Michiel, Kampmann, Peter, Meijer, Karina, O'Connell, Niamh, Pasi, K John, Hart, Daniel P, Kazmi, Rashid, Astermark, Jan, Hermans, Cedric R J R, Klamroth, Robert, Lemons, Richard, Visweshwar, Nathan, von Drygalski, Annette, Young, Guy, Crary, Shelley E, Escobar, Miguel, Gomez, Esteban, Kruse-Jarres, Rebecca, Quon, Doris V, Symington, Emily, Wang, Michael, Wheeler, Allison P, Gut, Robert, Liu, Ying P, Dolmetsch, Ricardo E, Cooper, David L, Li, Yanyan, Goldstein, Brahm, Monahan, Paul E
المساهمون: Poli Van Creveldkliniek Medisch
مصطلحات موضوعية: Factor IX/genetics, Genetic Therapy/methods, Genetic Vectors/administration & dosage, Hemophilia B/complications, Hemorrhage/etiology, Humans, Male, Pediatrics, Hematology/Oncology, Childhood Diseases, Coagulation, Genetics General, Genetics, General Medicine, Clinical Trial, Phase III, Journal Article
وصف الملف: application/pdf
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18Conference
المؤلفون: Furr Stimming, Erin, Sung, Victor, Testa, Claudia, Kostyk, Sandra, Ross, Christopher A, Samii, Ali, Geschwind, Michael D, Hall, Deborah, Dayalu, Praveen, Lonser, Russell, Elder, Brad, Larson, Paul S, Cooper, David L, Clarkin, Marcie, Ali, Talaha M, Dolmetsch, Ricardo E
المصدر: J: Clinical therapeutics ; page A95-A95
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19Academic Journal
المؤلفون: Rodriguez Santana, Idaira, Frank, Samuel, Doherty, Maria, Willock, Rosa, Hamilton, Jamie, Hubberstey, Hayley, Stanley, Cath, Vetter, Louise, Winkelmann, Michaela, Dolmetsch, Ricardo E., Li, Nanxin, Ratsch, Sarah, Ali, Talaha M.
المصدر: Neurol Clin Pract
مصطلحات موضوعية: Research Article, psy, edu
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20Academic Journal
المصدر: The Journal of Cell Biology, 2009 Oct . 187(2), 279-294.
URL الوصول: https://www.jstor.org/stable/40384472
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