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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: Wang, Lu, Heffner, Caleb, Vong, Keng loi, Barrows, Chelsea, Ha, Yoo-Jin, Lee, Sangmoon, Lara-Gonzalez, Pablo, Jhamb, Ishani, Van Der Meer, Dennis, Loughnan, Robert, Parker, Nadine, Sievert, David, Mittal, Swapnil, Issa, Mahmoud Y, Andreassen, Ole A, Dale, Anders, Dobyns, William B, Zaki, Maha S, Murray, Stephen A, Gleeson, Joseph G
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 120(4)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurological, Animals, Humans, Mice, Ependymoglial Cells, Mice, Knockout, Neocortex, TMEM161B, gyrification, CDC42, knock-in crispant mice, patient-derived brain organoids
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5d58c7krTest
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3دورية 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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4دورية 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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5دورية أكاديمية
المؤلفون: Nambot, Sophie, Hevner, Robert F, Dobyns, William B
المصدر: European Journal of Human Genetics. 28(8)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Autistic Disorder, Humans, Phenotype, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2ws5s0m5Test
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6دورية أكاديمية
المؤلفون: Oegema, Renske, Barkovich, A James, Mancini, Grazia MS, Guerrini, Renzo, Dobyns, William B
المصدر: Neurology. 93(14)
مصطلحات موضوعية: Biomedical Imaging, Neurosciences, Neurodegenerative, Rare Diseases, Brain Disorders, Pediatric, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Brain, Brain Diseases, Child, Child, Preschool, Databases, Factual, Female, Gray Matter, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Young Adult, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9h9255r8Test
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7دورية 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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8دورية 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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9دورية أكاديمية
المؤلفون: Ng, Bobby G, Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A, Barone, Rita, Botto, Lorenzo D, Burton, Jennifer E, Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S, Coman, David, Dipple, Katrina M, Dorrani, Naghmeh, Dobyns, William B, Elias, Abdallah F, Epstein, Leon, Gahl, William A, Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E, Hunter, Jesse M, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher CY, McKnight, Dianalee, Mendelsohn, Bryce A, Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F, Olczak, Mariusz, Palmer, Christina GS, Partikian, Arthur, Patterson, Marc C, Pierson, Tyler M, Quinonez, Shane C, Regan, Brigid M, Ross, M Elizabeth, Sacoto, Maria J Guillen, Scaglia, Fernando, Scheffer, Ingrid E, Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D, Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A, Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F, Rosenfeld, Jill A, Edmondson, Andrew C, Grunewald, Stephanie, Freeze, Hudson H
المصدر: Human Mutation. 40(7)
مصطلحات موضوعية: Clinical Research, Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Animals, Biopsy, CHO Cells, Cells, Cultured, Congenital Disorders of Glycosylation, Cricetulus, Female, Humans, Male, Monosaccharide Transport Proteins, Mutation, Uridine Diphosphate Galactose, congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDP-galactose, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/48w6q46xTest
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10دورية أكاديمية
المؤلفون: Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R, Pagnamenta, Alistair T, Wenninger-Weinzierl, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A, Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A, Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M, Cooper, Gregory M, Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J, Keays, David Anthony
المصدر: Neuron. 100(6)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Agenesis of Corpus Callosum, Animals, Animals, Newborn, Apoptosis, Brain, Cells, Cultured, Cerebellum, Child, Developmental Disabilities, Disease Models, Animal, Embryo, Mammalian, Female, Gene Expression Regulation, Developmental, Humans, Male, Malformations of Cortical Development, Mice, Mice, Inbred C57BL, Mice, Knockout, Microtubule-Associated Proteins, Mutation, Nerve Tissue Proteins, Nervous System Malformations, PAX6 Transcription Factor, MAST1, cerebellar hypoplasia, corpus callosum, microdeletion, microtubules, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6zj1233tTest