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1دورية أكاديمية
المؤلفون: Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M, Motazacker, M Mahdi, Mancini, Grazia MS, van Slegtenhorst, Marjon A, Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A, Sherr, Elliott H, Argilli, Emanuela, England, Eleina M, Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B, Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric
المصدر: American Journal of Human Genetics. 108(5)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Neurosciences, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adult, Agenesis of Corpus Callosum, Cerebellum, Child, Child, Preschool, Female, Humans, Hydrolases, Intellectual Disability, Male, Microtubule-Associated Proteins, Models, Molecular, Mutation, Missense, Neurodevelopmental Disorders, Tubulin, Young Adult, DPYSL5, brain malformation, corpus callosum agenesis, de novo missense variants, dendrite branching, neurodevelopmental disorder, primary neuronal cultures, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9t75z0zjTest
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2دورية أكاديمية
المؤلفون: Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, Zarate, Yuri A
المصدر: American Journal of Human Genetics. 108(1)
مصطلحات موضوعية: Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/14k5b9qxTest
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3دورية أكاديمية
المؤلفون: Lee, Sangmoon, Chen, Dillon Y, Zaki, Maha S, Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M, Dobyns, William B, McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N, Mancini, Grazia MS, Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M Chiara, Toosi, Mehran Beiraghi, Gleeson, Joseph G
المصدر: American Journal of Human Genetics. 105(4)
مصطلحات موضوعية: Biological Sciences, Neurosciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurological, Alleles, Classical Lissencephalies and Subcortical Band Heterotopias, Cytoskeletal Proteins, Developmental Disabilities, Female, Humans, Lissencephaly, Male, Pedigree, APC2, agyria, band heterotopia, epilepsy, intellectual disability, lissencephaly, neuronal migration, pachygyria, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1h9968t9Test
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4دورية أكاديمية
المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V
المصدر: American journal of human genetics. 105(2)
مصطلحات موضوعية: Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8wx8g9p6Test
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5دورية أكاديمية
المؤلفون: Schanze, Ina, Bunt, Jens, Lim, Jonathan WC, Schanze, Denny, Dean, Ryan J, Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J, Cho, Megan T, Dobyns, William B, Donnai, Dian, Douglas, Jessica, Earl, Dawn L, Edwards, Timothy J, Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F, Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M, Morgan, Sian M, Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T, Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B, Schneider, Anouck, Sherr, Elliott H, Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M, Zenker, Martin, Richards, Linda J
المصدر: American Journal of Human Genetics. 103(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Mental Health, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Rare Diseases, Behavioral and Social Science, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adolescent, Adult, Animals, Cerebral Cortex, Child, Child, Preschool, Codon, Nonsense, Cohort Studies, Corpus Callosum, Female, Haploinsufficiency, Humans, Intellectual Disability, Male, Megalencephaly, Mice, Mice, Knockout, NFI Transcription Factors, Polymorphism, Single Nucleotide, Young Adult, NFIB, agenesis of the corpus callosum, chromosome 9p22.3, chromosome 9p23, developmental delay, haploinsufficiency, intellectual disability, macrocephaly, megalencephaly, nuclear factor I, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7099p72xTest
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6دورية أكاديمية
المؤلفون: Schaffer, Ashleigh E, Breuss, Martin W, Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y, Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S, Rosti, Rasim O, Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C, Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L, Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A, Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N, Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B, Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G
المصدر: Nature genetics. 50(8)
مصطلحات موضوعية: Cerebral Cortex, Neurons, Animals, Mice, Inbred C57BL, Humans, Mice, Nerve Tissue Proteins, Pedigree, Cell Movement, Mutation, Genome, Human, alpha Catenin, Actin-Related Protein 2-3 Complex, Embryo, Mammalian, Neurosciences, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Neurological, Developmental Biology, Biological Sciences, Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9s51b96fTest
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7دورية أكاديمية
المؤلفون: Adams Waldorf, Kristina M, Nelson, Branden R, Stencel-Baerenwald, Jennifer E, Studholme, Colin, Kapur, Raj P, Armistead, Blair, Walker, Christie L, Merillat, Sean, Vornhagen, Jay, Tisoncik-Go, Jennifer, Baldessari, Audrey, Coleman, Michelle, Dighe, Manjiri K, Shaw, Dennis WW, Roby, Justin A, Santana-Ufret, Veronica, Boldenow, Erica, Li, Junwei, Gao, Xiaohu, Davis, Michael A, Swanstrom, Jesica A, Jensen, Kara, Widman, Douglas G, Baric, Ralph S, Medwid, Joseph T, Hanley, Kathryn A, Ogle, Jason, Gough, G Michael, Lee, Wonsok, English, Chris, Durning, W McIntyre, Thiel, Jeff, Gatenby, Chris, Dewey, Elyse C, Fairgrieve, Marian R, Hodge, Rebecca D, Grant, Richard F, Kuller, LaRene, Dobyns, William B, Hevner, Robert F, Gale, Michael, Rajagopal, Lakshmi
المصدر: Nature Medicine. 24(3)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Infection, Neurological, Good Health and Well Being, Animals, Disease Models, Animal, Female, Fetus, Humans, Macaca nemestrina, Microcephaly, Neurogenesis, Pregnancy, Pregnancy Complications, Infectious, Zika Virus, Zika Virus Infection, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/27j088xpTest
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8دورية أكاديمية
المؤلفون: Lardelli, Rea M, Schaffer, Ashleigh E, Eggens, Veerle RC, Zaki, Maha S, Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L, Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L, Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H, de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Blaser, Susan, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Christesen, Henrik T, Kibaek, Maria, Aldinger, Kimberly A, Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B, Chi, Neil C, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B, Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J, Yeo, Gene W, Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G
المصدر: Nature Genetics. 49(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Alleles, Animals, Cerebellar Diseases, Exonucleases, Female, Humans, Male, Mice, Mutation, Neurodegenerative Diseases, Nuclear Proteins, RNA, Messenger, RNA, Small Nuclear, Spliceosomes, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0xp8399tTest
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9دورية أكاديمية
المؤلفون: Twigg, Stephen RF, Hufnagel, Robert B, Miller, Kerry A, Zhou, Yan, McGowan, Simon J, Taylor, John, Craft, Jude, Taylor, Jenny C, Santoro, Stephanie L, Huang, Taosheng, Hopkin, Robert J, Brady, Angela F, Clayton-Smith, Jill, Clericuzio, Carol L, Grange, Dorothy K, Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I Karen, Dobyns, William B, Curry, Cynthia J, Jones, Marilyn C, Wilkie, Andrew OM
المصدر: American Journal of Human Genetics. 98(6)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Brain Cancer, Clinical Research, Neurosciences, Cancer, Pediatric, Genetics, Child, Preschool, Craniofacial Abnormalities, Female, Humans, Infant, Infant, Newborn, Intestines, Male, Mutation, Signal Transduction, Skin Abnormalities, Smoothened Receptor, Syndactyly, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7gk499wkTest
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10دورية أكاديمية
المؤلفون: Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees PJ, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia MS, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G
المصدر: Nature Genetics. 46(5)
مصطلحات موضوعية: Pediatric, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Animals, Base Sequence, Blotting, Western, Bromodeoxyuridine, Cyclin D2, Electroporation, Exome, Female, HEK293 Cells, Humans, Hydrocephalus, Immunohistochemistry, Malformations of Cortical Development, Megalencephaly, Mice, Microscopy, Fluorescence, Molecular Sequence Data, Mutagenesis, Site-Directed, Polydactyly, Sequence Analysis, DNA, Syndrome, FORGE Canada Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6p05f4xpTest