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

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

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

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

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

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

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

المؤلفون: Jasien, Joan Mary^Aff1, Mikati, Mohamad A., Kolarova, Michaela, Smith, Brian, Thera, Stephanie, Lee, Pierre

المصدر: Child's Nervous System. 37(4):1143-1150

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

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