المؤلفون: Tenney, Alan P, Di Gioia, Silvio Alessandro, Webb, Bryn D, Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J, Barry, Brenda J, Ray, Tammy, Kosicki, Michael, Robson, Caroline D, Zhang, Zhongyang, Collins, Thomas E, Gelber, Alon, Pratt, Brandon M, Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E, Van Ryzin, Carol, Lehky, Tanya J, Zalewski, Christopher, King, Kelly A, Brewer, Carmen C, Thurm, Audrey, Snow, Joseph, Facio, Flavia M, Narisu, Narisu, Bonnycastle, Lori L, Swift, Amy, Chines, Peter S, Bell, Jessica L, Mohan, Suresh, Whitman, Mary C, Staffieri, Sandra E, Elder, James E, Demer, Joseph L, Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A, Brady, Angela F, Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W, Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H, Parker, Stephen CJ, Hadlock, Tessa A, Vissers, Lisenka ELM, van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S, Pennacchio, Len A, Manoli, Irini, Engle, Elizabeth C

المصدر: Nature Genetics. 55(7)

مصطلحات موضوعية: Biological Sciences, Genetics, Stem Cell Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Animals, Mice, Facial Paralysis, GATA2 Transcription Factor, Motor Neurons, Neurogenesis, Neurons, Efferent, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0w01w8fmTest

المؤلفون: Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio

المصدر: Lecoquierre , F , Punt , A M , Ebstein , F , Wallaard , I , Verhagen , R , Studencka-Turski , M , Duffourd , Y , Moutton , S , Tran Mau-Them , F , Philippe , C , Dean , J , Tennant , S , Brooks , A S , van Slegtenhorst , M A , Jurgens , J A , Barry , B J , Chan , W M , England , E M , Martinez Ojeda , M , Engle , E C , Robson , C D , Morrow , M ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/2208dd0b-6ffb-4070-949d-dfd57e2079aaTest

الإتاحة: https://doi.org/10.1016Test/j.gim.2024.101119
https://pure.eur.nl/en/publications/2208dd0b-6ffb-4070-949d-dfd57e2079aaTest
https://pure.eur.nl/ws/files/145319111/PIIS1098360024000522.pdfTest
http://www.scopus.com/inward/record.url?scp=85190767403&partnerID=8YFLogxKTest

المؤلفون: Puri, Dharmendra, Barry, Brenda J., Engle, Elizabeth C.

المصدر: Frontiers in Neuroscience ; volume 17 ; ISSN 1662-453X

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.3389/fnins.2023.1226181Test

المؤلفون: Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C., Barry, Brenda J., Partlow, Jennifer N., Chang, Bernard S., Shaw, Gary M., Barkovich, A. James, Walsh, Christopher A.

مصطلحات موضوعية: schizencephaly, septo-optic dysplasia, LHX1, HESX1, SOX2, MUTATIONS, EMX2, ANOPHTHALMIA, POPULATION, FEATURES, MICE, 03 Good Health and Well-being, 03 Salud y bienestar

وصف الملف: 7 páginas

العلاقة: MEDLINE:20949537; https://doi.org/10.1002/ajmg.a.33684Test; https://repositorio.uc.cl/handle/11534/79172Test; WOS:000284005700010

الإتاحة: https://doi.org/10.1002/ajmg.a.33684Test
https://repositorio.uc.cl/handle/11534/79172Test

المؤلفون: D'Gama, Alissa M, Geng, Ying, Couto, Javier A, Martin, Beth, Boyle, Evan A, LaCoursiere, Christopher M, Hossain, Amer, Hatem, Nicole E, Barry, Brenda J, Kwiatkowski, David J, Vinters, Harry V, Barkovich, A James, Shendure, Jay, Mathern, Gary W, Walsh, Christopher A, Poduri, Annapurna

المصدر: Annals of neurology. 77(4)

مصطلحات موضوعية: Humans, GTPase-Activating Proteins, Repressor Proteins, Cohort Studies, Signal Transduction, Mutation, Proto-Oncogene Proteins c-akt, Malformations of Cortical Development, Phosphatidylinositol 3-Kinases, TOR Serine-Threonine Kinases, Hemimegalencephaly, Brain Disorders, Epilepsy, Neurodegenerative, Pediatric, Genetics, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6ts4k6c2Test

المؤلفون: Jamuar, Saumya S, Lam, Anh-Thu N, Kircher, Martin, D'Gama, Alissa M, Wang, Jian, Barry, Brenda J, Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N, Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K, Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E, Berkovic, Samuel F, Leventer, Richard J, Shen, Yiping, Wu, Bai Lin, Barkovich, A James, Sahin, Mustafa, Chang, Bernard S, Bamshad, Michael, Nickerson, Deborah A, Shendure, Jay, Poduri, Annapurna, Yu, Timothy W, Walsh, Christopher A

المصدر: New England Journal of Medicine. 371(8)

مصطلحات موضوعية: Genetics, Intellectual and Developmental Disabilities (IDD), Mental Health, Human Genome, Genetic Testing, Neurosciences, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Cerebral Cortex, Classical Lissencephalies and Subcortical Band Heterotopias, DNA Mutational Analysis, Humans, Lissencephaly, Magnetic Resonance Imaging, Malformations of Cortical Development, Mutation, Periventricular Nodular Heterotopia, Medical and Health Sciences, General & Internal Medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/25x7m0vvTest

المؤلفون: Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.

المصدر: Whitman , M C , Barry , B J , Robson , C D , Facio , F M , Van Ryzin , C , Chan , W M , Lehky , T J , Thurm , A , Zalewski , C , King , K A , Brewer , C , Almpani , K , Lee , J S , Delaney , A , FitzGibbon , E J , Lee , P R , Toro , C , Paul , S M , Abdul-Rahman , O A , Webb , B D , Jabs , E W , ....

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Adolescent, Adult, Amino Acid Substitution, Arginine, Child, Preschool, Facial Paralysis/diagnosis, Female, Fibrosis/diagnosis, Histidine, Humans, Infant, Male, Mutation, Ophthalmoplegia/diagnosis, Peripheral Nervous System Diseases/diagnosis, Syndrome, Tubulin/genetics, Young Adult

الإتاحة: https://doi.org/10.1007/s00439-021-02379-9Test
https://pure.au.dk/portal/da/publications/tubb3-arg262his-causes-a-recognizable-syndrome-including-cfeom3-facial-palsy-joint-contractures-and-earlyonset-peripheral-neuropathyTest(631c97d2-eed9-4d79-a46d-e0d393fc41f5).html
http://www.scopus.com/inward/record.url?scp=85117103342&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656246/pdf/nihms-1757235.pdfTest

المؤلفون: Mochida, Ganeshwaran H, Ganesh, Vijay S, de Michelena, Maria I, Dias, Hugo, Atabay, Kutay D, Kathrein, Katie L, Huang, Hsuan-Ting, Hill, R Sean, Felie, Jillian M, Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D, Malik, Athar N, Barry, Brenda J, Partlow, Jennifer N, Tan, Wen-Hann, Glader, Laurie J, Barkovich, A James, Dobyns, William B, Zon, Leonard I, Walsh, Christopher A

المصدر: Nature Genetics. 44(11)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Regenerative Medicine, Rare Diseases, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research - Nonembryonic - Human, Congenital Structural Anomalies, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, Animals, Cell Proliferation, Cerebellar Cortex, Cyclin-Dependent Kinase Inhibitor p16, Endosomal Sorting Complexes Required for Transport, Gene Expression Regulation, Developmental, Genetic Linkage, HEK293 Cells, Humans, Mice, Microcephaly, Mitogen-Activated Protein Kinase 7, Mutation, NIH 3T3 Cells, Neural Stem Cells, Neurons, Polymorphism, Single Nucleotide, Vesicular Transport Proteins, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6rv4b0vgTest

المؤلفون: Yang, Yawei J, Baltus, Andrew E, Mathew, Rebecca S, Murphy, Elisabeth A, Evrony, Gilad D, Gonzalez, Dilenny M, Wang, Estee P, Marshall-Walker, Christine A, Barry, Brenda J, Murn, Jernej, Tatarakis, Antonis, Mahajan, Muktar A, Samuels, Herbert H, Shi, Yang, Golden, Jeffrey A, Mahajnah, Muhammad, Shenhav, Ruthie, Walsh, Christopher A

المصدر: Cell. 151(5)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Neurosciences, Genetics, Stem Cell Research - Nonembryonic - Non-Human, Regenerative Medicine, Congenital Structural Anomalies, Brain Disorders, Pediatric, Biotechnology, Rare Diseases, Stem Cell Research, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Animals, Carrier Proteins, Cell Differentiation, Cell Proliferation, DNA-Binding Proteins, Female, Gene Knockdown Techniques, Genes, Lethal, Histone-Lysine N-Methyltransferase, Humans, Intracellular Signaling Peptides and Proteins, Male, Mice, Mice, Knockout, Microcephaly, Multiprotein Complexes, Myeloid-Lymphoid Leukemia Protein, Neural Stem Cells, Neurogenesis, Nuclear Proteins, Repressor Proteins, Transcription Factors, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5q50x5tdTest

المؤلفون: Sadeghi, Neda, Hutchinson, Elizabeth, Van Ryzin, Carol, FitzGibbon, Edmond J, Butman, John A, Webb, Bryn D, Facio, Flavia, Brooks, Brian P, Collins, Francis S, Jabs, Ethylin Wang, Engle, Elizabeth C, Manoli, Irini, Pierpaoli, Carlo, Erazo, Monica, Frempong, Tamiesha, Hao, Ke, Naidich, Thomas P, Rucker, Janet C, Zhang, Zhongyang, Andrews, Caroline, Barry, Brenda J, DiGioia, Silvio Alessandro, Engle, Elizabeth, Hunter, David G, MacKinnon, Sarah E, Robson, Caroline, Rose, Matthew, Biesecker, Barbara B, Bonnycastle, Lori L, Brewer, Carmen C, Chien, Wade W, Chines, Peter S, Farrell, Kathleen, Gropman, Andrea L, Jain, Mina S, King, Kelly A, Lehky, Tanya J, Lee, Janice, Liberton, Denise K, Narisu, Narisu, Paul, Scott M

المساهمون: Intramural Research Programs, National Institute of Biomedical Imaging and Bioengineering, NIBIB, National Human Genome Research Institute, NHGRI, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NICHD, National Institute of Health Clinical Center, and National Eye Institute, NEI, Moebius Syndrome Foundation

المصدر: Brain Communications ; volume 2, issue 1 ; ISSN 2632-1297

مصطلحات موضوعية: General Engineering

الإتاحة: https://doi.org/10.1093/braincomms/fcaa014Test
http://academic.oup.com/braincomms/article-pdf/2/1/fcaa014/38498617/fcaa014.pdfTest