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1دورية أكاديمية
المؤلفون: Kimonis, Virginia, Al Dubaisi, Rehab, Maclean, Andrew E, Hall, Kathy, Weiss, Lan, Stover, Alexander E, Schwartz, Philip H, Berg, Bethany, Cheng, Cheng, Parikh, Sumit, Conner, Blair R, Wu, Sitao, Hasso, Anton N, Scott, Daryl A, Koenig, Mary Kay, Karam, Rachid, Tang, Sha, Smith, Moyra, Chao, Elizabeth, Balk, Janneke, Hatchwell, Eli, Eis, Peggy S
المصدر: Journal of medical genetics. 58(5)
مصطلحات موضوعية: Brain, Humans, Mitochondrial Diseases, Mitochondrial Proteins, Magnetic Resonance Imaging, Pedigree, DNA Mutational Analysis, Adolescent, Child, Female, Male, Young Adult, Whole Exome Sequencing, RNA-Seq, clinical genetics, metabolic disorders, molecular genetics, neurology, Rare Diseases, Genetics, Clinical Research, Neurodegenerative, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/33q7g6w8
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2دورية أكاديمية
المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno
المصدر: Nature Communications. 11(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Alleles, Animals, Child, Child, Preschool, Female, Genes, Recessive, Humans, Infant, Kinetics, Loss of Function Mutation, Male, Organoids, Oxidoreductases, Pedigree, Protein Domains, Syndrome, Uridine Diphosphate Glucose Dehydrogenase, Zebrafish
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5f80k46t
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3دورية أكاديمية
المؤلفون: Al-Tahan, Sejad, Weiss, Lan, Yu, Howard, Tang, Sha, Saporta, Mario, Vihola, Anna, Mozaffar, Tahseen, Udd, Bjarne, Kimonis, Virginia
المصدر: Neurology Genetics. 5(4)
مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Biotechnology, Human Genome, Rare Diseases, Genetics, Aetiology, 2.1 Biological and endogenous factors, Neurosciences, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9rj646hx
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4دورية 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
URL الوصول: https://escholarship.org/uc/item/48w6q46x
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5دورية أكاديميةNovel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
المؤلفون: Simon, Mariella T, Eftekharian, Shaya S, Stover, Alexander E, Osborne, Aaron F, Braffman, Bruce H, Chang, Richard C, Wang, Raymond Y, Steenari, Maija R, Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J, Benke, Paul J, Abdenur, Jose E
المصدر: Molecular Genetics and Metabolism. 126(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Biopsy, Child, Child, Preschool, Electron Transport Complex I, Female, Humans, Infant, Leigh Disease, Male, Methyltransferases, Mitochondrial Diseases, Mitochondrial Proteins, Mutation, Pedigree, Phenotype, Skin, Exome Sequencing, Whole Genome Sequencing, Young Adult, Complex I, Leigh syndrome, Mitochondrial disease, Splicing, Hyponatremia, NDUFAF5, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9pr0w4vz
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6دورية أكاديمية
المؤلفون: Johannesen, Katrine M, Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Martin, Anne Saint, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J Lawrence, Rodan, Lance H, Tan, Wen‐Hann, Bird, Lynne M, Nespeca, Mark, Gleeson, Joseph G, Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S, Schelhaas, Helenius J, Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G, Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E, Pisani, Laura, Myers, Candace T, Tang, Sha, Tang, Shan, Pal, Deb K, Millichap, John J, Carvill, Gemma L, Helbig, Kathrine L, Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C, Møller, Rikke S
المصدر: Epilepsia. 59(2)
مصطلحات موضوعية: Behavioral and Social Science, Neurodegenerative, Neurosciences, Genetics, Epilepsy, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Anticonvulsants, Ataxia, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsies, Myoclonic, Epilepsies, Partial, Epilepsy, Generalized, Female, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Phenotype, Treatment Outcome, Valproic Acid, Young Adult, epilepsy, epilepsy genetics, MAE, SLC6A1, MAE, SLC6A1, Clinical Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2q37p21v
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7دورية أكاديمية
المؤلفون: Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Rizzo, Stacey J Sukoff, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng
المصدر: Human Molecular Genetics. 26(24)
مصطلحات موضوعية: Neurosciences, Eye Disease and Disorders of Vision, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Alleles, Animals, Child, Child, Preschool, Electron Transport, Female, Ferredoxins, Humans, Infant, Iron, Iron-Sulfur Proteins, Male, Mice, Mitochondria, Mitochondrial Membranes, Mutagenesis, Mutation, Optic Atrophy, Oxidoreductases, Pedigree, Sulfite Reductase (Ferredoxin), Exome Sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1pd479ht
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8دورية أكاديمية
المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle
المصدر: American Journal of Human Genetics. 101(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, 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/9gc6k2mk
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9دورية أكاديمية
المؤلفون: Kim, Jung-Hyun, Shinde, Deepali N, Reijnders, Margot RF, Hauser, Natalie S, Belmonte, Rebecca L, Wilson, Gregory R, Bosch, Daniëlle GM, Bubulya, Paula A, Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K, Park, Eun Young, Veltman, Joris A, Sinnema, Margje, Stumpel, Connie TRM, Draaisma, Jos M, Nicolai, Joost, Genomics, University of Washington Center for Mendelian, Yntema, Helger G, Lindstrom, Kristin, de Vries, Bert BA, Jewett, Tamison, Santoro, Stephanie L, Vogt, Julie, Study, Deciphering Developmental Disorders, Bachman, Kristine K, Seeley, Andrea H, Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M, Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A, Behunova, Jana, Rehder, Helga, Gordon, Christopher T, Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T, McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander PA, Stevens, Servi JC, Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G, Brunner, Han G, Mancini, Grazia M, Myers, Richard M, Owen, Laurie B, Lim, Ssang-Taek, Stachura, David L, Vissers, Lisenka ELM, Ahn, Eun-Young Erin
المصدر: American Journal of Human Genetics. 99(3)
مصطلحات موضوعية: Brain Disorders, Congenital Structural Anomalies, Neurosciences, Mental Health, Clinical Research, Genetics, Pediatric, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Congenital, Animals, Brain, DNA-Binding Proteins, Developmental Disabilities, Eye Abnormalities, Female, Genes, Essential, Haploinsufficiency, Head, Heterozygote, Humans, Intellectual Disability, Male, Metabolic Diseases, Minor Histocompatibility Antigens, Mutation, Pedigree, RNA Splicing, RNA, Messenger, Spine, Syndrome, Zebrafish, University of Washington Center for Mendelian Genomics, Deciphering Developmental Disorders Study, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
URL الوصول: https://escholarship.org/uc/item/27g3h88z
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10دورية أكاديمية
المؤلفون: Hyman, Bradley C, Lewis, Samantha C, Tang, Sha, Wu, Zhen
المصدر: Genetica. 139(5)
مصطلحات موضوعية: Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Animals, DNA, Mitochondrial, Evolution, Molecular, Gene Order, Gene Rearrangement, Genetic Variation, Genome, Mitochondrial, Haplotypes, Models, Genetic, Nematoda, Gene order, Haplotype variation, Mitochondrial DNA, Nematode, Evolutionary Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8z24h6n3