-
1دورية أكاديمية
المؤلفون: Hendrix, James A, Amon, Angelika, Abbeduto, Leonard, Agiovlasitis, Stamatis, Alsaied, Tarek, Anderson, Heather A, Bain, Lisa J, Baumer, Nicole, Bhattacharyya, Anita, Bogunovic, Dusan, Botteron, Kelly N, Capone, George, Chandan, Priya, Chase, Isabelle, Chicoine, Brian, Cieuta-Walti, Cécile, DeRuisseau, Lara R, Durand, Sophie, Esbensen, Anna, Fortea, Juan, Giménez, Sandra, Granholm, Ann-Charlotte, Hahn, Laura J, Head, Elizabeth, Hillerstrom, Hampus, Jacola, Lisa M, Janicki, Matthew P, Jasien, Joan M, Kamer, Angela R, Kent, Raymond D, Khor, Bernard, Lawrence, Jeanne B, Lemonnier, Catherine, Lewanda, Amy Feldman, Mobley, William, Moore, Paul E, Nelson, Linda Pollak, Oreskovic, Nicolas M, Osorio, Ricardo S, Patterson, David, Rasmussen, Sonja A, Reeves, Roger H, Roizen, Nancy, Santoro, Stephanie, Sherman, Stephanie L, Talib, Nasreen, Tapia, Ignacio E, Walsh, Kyle M, Warren, Steven F, White, A Nicole, Wong, Guang William, Yi, John S
المصدر: Translational Science of Rare Diseases. 5(3-4)
مصطلحات موضوعية: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Brain Disorders, Down Syndrome, Intellectual and Developmental Disabilities (IDD), Congenital, Good Health and Well Being, Alzheimer’s disease, Down syndrome, autism spectrum disorder, autoimmune disease, cognitive development, congenital heart disease, intellectual disability, leukemia, muscle hypotonia, obesity, obstructive sleep apnea, periodontitis
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5p99m1rw
-
2دورية أكاديمية
المؤلفون: Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A
المصدر: Human Mutation. 40(8)
مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/44k6m8qw
-
3دورية أكاديمية
المؤلفون: Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Diseases, Program for Undiagnosed, Callens, Steven, Coucke, Paul, Hemelsoet, Dimitri, Terryn, Wim, Van Coster, Rudy, Network, Undiagnosed Diseases, Adams, David R, Alejandro, Mercedes E, Allard, Patrick, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dillon, Ani, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A
المصدر: American Journal of Human Genetics. 103(2)
مصطلحات موضوعية: Neurodegenerative, Brain Disorders, Neurosciences, Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Neurological, Program for Undiagnosed Diseases, Undiagnosed Diseases Network, C3HC4 RING finger, CG11138, Drosophila, EAP1, ataxia, developmental regression, hypotonia, neurodegeneration, pits, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2sb1c8bg
-
4دورية أكاديمية
المؤلفون: Parker, Lauren E., Wallace, Keri, Thevathasan, Arthur, Funk, Emily, Pratt, Milton, Thamby, Julie, Tran, Linh, Prange, Lyndsey, Uchitel, Julie, Boggs, April, Minton, Melissa, Jasien, Joan, Nagao, Kanae Jennifer, Richards, Amanda, Cruse, Belinda, De-Lisle Dear, Guy, Landstrom, Andrew P., Mikati, Mohamad A.
المصدر: In European Journal of Paediatric Neurology May 2022 38:47-52
-
5دورية أكاديمية
المؤلفون: Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward, El-Dairi, Mays, Bellet, Jane, Keels, Martha, Jasien, Joan, Kranz, Peter, Noel, Richard, Nagaraj, Shashi, Lark, Robert, Wechsler, Daniel, Del Gaudio, Daniela, Leung, Marco, Hendon, Laura, Parker, Collette, Jones, Kelly, Goldstein, David, Shashi, Vandana
المصدر: Genetics in Medicine. 20(4)
مصطلحات موضوعية: Alleles, Biopsy, Child, Child, Preschool, Exome, Female, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genotype, Humans, Infant, Molecular Diagnostic Techniques, Phenotype, Polymorphism, Single Nucleotide, Rare Diseases, Exome Sequencing, Whole Genome Sequencing
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1hv4b4w0
-
6دورية أكاديمية
المؤلفون: Moya-Mendez, Mary E., Mueller, David M., Pratt, Milton, Bonner, Melanie, Elliott, Courtney, Hunanyan, Arsen, Kucera, Gary, Bock, Cheryl, Prange, Lyndsey, Jasien, Joan, Keough, Karen, Shashi, Vandana, McDonald, Marie, Mikati, Mohamad A.
المصدر: In Epilepsy & Behavior March 2021 116
-
7دورية أكاديمية
المؤلفون: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, Lincoln, Sharyn A
المصدر: American Journal of Human Genetics. 100(2)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense, Neoplasm Proteins, Pedigree, Phenotype, Repressor Proteins, Spasms, Infantile, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, NACC1, cataracts, developmental/intellectual disabilities, epilepsy, irritability, microcephaly, stereotypy, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7290n3b3
-
8دورية أكاديمية
المؤلفون: Jasien, Joan MaryAff1, Mikati, Mohamad A., Kolarova, Michaela, Smith, Brian, Thera, Stephanie, Lee, Pierre
المصدر: Child's Nervous System. 37(4):1143-1150
-
9دورية أكاديمية
المؤلفون: Daimon, Caitlin M, Jasien, Joan M, Wood, William H, Zhang, Yongqing, Becker, Kevin G, Silverman, Jill L, Crawley, Jacqueline N, Martin, Bronwen, Maudsley, Stuart
المصدر: Frontiers in physiology. 6(NOV)
مصطلحات موضوعية: BTBR mouse model, autism spectrum disorder phenotype, behavior, bioinformatics, etiology, Physiology, Medical Physiology, Psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/01v6x23j
-
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.