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1دورية أكاديمية
المؤلفون: Marcogliese, Paul C, Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi DP, Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A, Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D, Network, Undiagnosed Diseases, Pena, Loren DM, Yamamoto, Shinya, Nelson, Stanley F, Might, Matthew, Meyer, Kathrin C, Yeo, Nan Cher, Bellen, Hugo J
المصدر: Science Advances. 8(3)
مصطلحات موضوعية: Pediatric, Genetics, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Carrier Proteins, Child, Drosophila, Drosophila Proteins, Humans, Interferon Regulatory Factor-2, Nuclear Proteins, Proto-Oncogene Proteins, Wnt Signaling Pathway, Wnt1 Protein, Zebrafish
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8sh3t8bgTest
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2دورية أكاديمية
المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
المصدر: Genetics in Medicine. 22(5)
مصطلحات موضوعية: Genetics, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Female, GATA Transcription Factors, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Nucleosomes, Phenotype, Pregnancy, Repressor Proteins, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Undiagnosed Diseases Network, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7683d0mfTest
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3دورية أكاديمية
المؤلفون: Kishnani, Priya S, Gibson, James B, Gambello, Michael J, Hillman, Richard, Stockton, David W, Kronn, David, Leslie, Nancy D, Pena, Loren DM, Tanpaiboon, Pranoot, Day, John W, Wang, Raymond Y, Goldstein, Jennifer L, An Haack, Kristina, Sparks, Susan E, Zhao, Yang, Hahn, Si Houn
المصدر: Genetics in Medicine. 21(11)
مصطلحات موضوعية: Biological Sciences, Genetics, Digestive Diseases, Clinical Research, Liver Disease, Chronic Liver Disease and Cirrhosis, Pediatric, Adolescent, Child, Child, Preschool, Cohort Studies, Enzyme Replacement Therapy, Female, Genotype, Glycogen Storage Disease Type II, Humans, Infant, Male, Phenotype, Prospective Studies, United States, alpha-Glucosidases, alglucosidase alfa, glycogenosis type 2, GAA pathogenic variants, infantile-onset Pompe disease, late-onset Pompe disease, Pompe ADVANCE Study Consortium, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0z94x25hTest
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4دورية أكاديمية
المؤلفون: Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM
المصدر: Cold Spring Harbor molecular case studies. 4(5)
مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Osteochondrodysplasias, Exocrine Pancreatic Insufficiency, Bone Marrow Diseases, Lipomatosis, GTP Phosphohydrolases, Proteins, Ribonucleoprotein, U5 Small Nuclear, Peptide Elongation Factors, Phenotype, Mutation, Adolescent, Female, Genetic Variation, Shwachman-Diamond Syndrome, Exome Sequencing, congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Clinical Research, Brain Disorders, Human Genome, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Whole Exome Sequencing
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0x70z6snTest
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5دورية أكاديمية
المؤلفون: Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C, El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G, Noel, Richard, Nagaraj, Shashi K, Lark, Robert K, Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L, Hendon, Laura G, Parker, Collette C, Jones, Kelly L, Goldstein, David B, Shashi, Vandana
المصدر: Genetics in Medicine. 20(4)
مصطلحات موضوعية: Genetics, Pediatric, Human Genome, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, 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, infantile neuroaxonal dystrophy, infantile systemic hyalinosis, leukoencephalopathy with vanishing white matter, Undiagnosed Diseases Network, whole-exome sequencing, Undiagnosed Diseases Network Members, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1jn52197Test
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6دورية 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
الوصول الحر: https://escholarship.org/uc/item/7290n3b3Test
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7دورية أكاديمية
المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
المصدر: Genetics in Medicine, vol 22, iss 4
مصطلحات موضوعية: Biological Sciences, Genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity
جغرافية الموضوع: 822 - 822
وصف الملف: application/pdf
العلاقة: qt53c7t7b0; https://escholarship.org/uc/item/53c7t7b0Test
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8دورية أكاديمية
المؤلفون: Day, John W, Chiriboga, Claudia A, Crawford, Thomas O, Darras, Basil T, Finkel, Richard S, Connolly, Anne M, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren DM, Schultz, Meredith, Shieh, Perry B, Smith, Edward C, Kausar, Imran, Feltner, Douglas E, Ogrinc, Francis G, Ouyang, Haojun, Macek, Thomas A, Kernbauer, Elaine, Muehring, Lynlee M, L’Italien, James, Sproule, Douglas M, Kaspar, Brian K, Mendell, Jerry R
مصطلحات موضوعية: Parallel session 6: Clinical Neurology 2
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/90/12/e60-bTest; http://dx.doi.org/10.1136/jnnp-2019-ABN-2.202Test
الإتاحة: https://doi.org/10.1136/jnnp-2019-ABN-2.202Test
http://jnnp.bmj.com/cgi/content/short/90/12/e60-bTest -
9دورية أكاديمية
المؤلفون: Geng, Linda N, Kohler, Jennefer N, Levonian, Peter, Members of the Undiagnosed Diseases Network, Bernstein, Jonathan A, Ford, James M, Ahuja, Neera, Witteles, Ronald, Hom, Jason, Wheeler, Matthew, 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, 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, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Sessions Cole, F, 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, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Kelley, Emily G, Koeller, David M, Kohane, Isaac S, Krakow, Deborah, Krasnewich, Donna M, Korrick, Susan, Koziura, Mary, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lam, Byron, Lanpher, Brendan C, Lanza, Ian R, Christopher Lau, C, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levitt, Roy, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majcherska, Marta M, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Nath, Avi, Nelson, Stan F, Scott Newberry, J, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Rowley, Robb K, Sacco, Ralph, Sampson, Jacinda B, Samson, Susan L, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Solnica-Krezel, Lilianna, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Sweetser, David A, Tamburro, Cecelia P, Tan, Queenie K-G, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walley, Nicole M, Walsh, Chris A, Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Woods, Jeremy D, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, John, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zuchner, Stephan
مصطلحات موضوعية: Letter
وصف الملف: text/html
العلاقة: http://pmj.bmj.com/cgi/content/short/95/1128/569Test; http://dx.doi.org/10.1136/postgradmedj-2018-136355Test
الإتاحة: https://doi.org/10.1136/postgradmedj-2018-136355Test
http://pmj.bmj.com/cgi/content/short/95/1128/569Test -
10دورية أكاديمية
المؤلفون: Day, John W, Chiriboga, Claudia A, Crawford, Thomas O, Darras, Basil T, Finkel, Richard S, Connolly, Anne M, Iannaccone, Susan T, Kuntz, Nancy L, Pena, Loren DM, Schultz, Meredith, Shieh, Perry B, Smith, Edward C, Farrar, Michelle, Feltner, Douglas E, Ogrinc, Francis G, Macek, Thomas A, Kernbauer, Elaine, Muehring, Lynlee M, L’Italien, James, Sproule, Douglas M, Kaspar, Brian K, Mendell, Jerry R
مصطلحات موضوعية: Poster abstract
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/90/e7/A22-aTest; http://dx.doi.org/10.1136/jnnp-2019-anzan.58Test
الإتاحة: https://doi.org/10.1136/jnnp-2019-anzan.58Test
http://jnnp.bmj.com/cgi/content/short/90/e7/A22-aTest
