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, vol 8, iss 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

Relation: qt8sh3t8bg; https://escholarship.org/uc/item/8sh3t8bg

الاتاحة: https://escholarship.org/uc/item/8sh3t8bg

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

Relation: qt53c7t7b0; https://escholarship.org/uc/item/53c7t7b0; https://escholarship.org/content/qt53c7t7b0/qt53c7t7b0.pdf

الاتاحة: https://escholarship.org/uc/item/53c7t7b0
https://escholarship.org/content/qt53c7t7b0/qt53c7t7b0.pdf
https://doi.org/10.1038/s41436-020-0760-2

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 5

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Mental Health, Rare Diseases, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, 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, Clinical Sciences, Genetics & Heredity

جغرافية الموضوع: 878 - 888

وصف الملف: application/pdf

Relation: qt7683d0mf; https://escholarship.org/uc/item/7683d0mf; https://escholarship.org/content/qt7683d0mf/qt7683d0mf.pdf

الاتاحة: https://escholarship.org/uc/item/7683d0mf
https://escholarship.org/content/qt7683d0mf/qt7683d0mf.pdf
https://doi.org/10.1038/s41436-019-0747-z

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

Relation: http://jnnp.bmj.com/cgi/content/short/90/12/e60-b; http://dx.doi.org/10.1136/jnnp-2019-ABN-2.202

الاتاحة: http://jnnp.bmj.com/cgi/content/short/90/12/e60-b
https://doi.org/10.1136/jnnp-2019-ABN-2.202

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

Relation: http://pmj.bmj.com/cgi/content/short/95/1128/569; http://dx.doi.org/10.1136/postgradmedj-2018-136355

الاتاحة: http://pmj.bmj.com/cgi/content/short/95/1128/569
https://doi.org/10.1136/postgradmedj-2018-136355

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

Relation: http://jnnp.bmj.com/cgi/content/short/90/e7/A22-a; http://dx.doi.org/10.1136/jnnp-2019-anzan.58

الاتاحة: http://jnnp.bmj.com/cgi/content/short/90/e7/A22-a
https://doi.org/10.1136/jnnp-2019-anzan.58

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, vol 21, iss 11

مصطلحات موضوعية: Biological Sciences, Genetics, Digestive Diseases, Clinical Research, Liver Disease, Chronic Liver Disease and Cirrhosis, Pediatric, Adolescent, 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

Time: 2543 - 2551

وصف الملف: application/pdf

Relation: qt0z94x25h; https://escholarship.org/uc/item/0z94x25h

الاتاحة: https://escholarship.org/uc/item/0z94x25h

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, vol 20, iss 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, 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

جغرافية الموضوع: 464 - 469

وصف الملف: application/pdf

Relation: qt1jn52197; https://escholarship.org/uc/item/1jn52197

الاتاحة: https://escholarship.org/uc/item/1jn52197

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, vol 4, iss 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, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Clinical Research, Brain Disorders, Human Genome, Genetics

وصف الملف: application/pdf

Relation: qt0x70z6sn; https://escholarship.org/uc/item/0x70z6sn

الاتاحة: https://escholarship.org/uc/item/0x70z6sn

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, vol 100, iss 2

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Epilepsy, Neurodegenerative, Brain Disorders, Clinical Research, Mental Health, Rare Diseases, Human Genome, Neurosciences, Pediatric, 2.1 Biological and endogenous factors, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male

جغرافية الموضوع: 343 - 351

وصف الملف: application/pdf

Relation: qt7290n3b3; https://escholarship.org/uc/item/7290n3b3; https://escholarship.org/content/qt7290n3b3/qt7290n3b3.pdf

الاتاحة: https://escholarship.org/uc/item/7290n3b3
https://escholarship.org/content/qt7290n3b3/qt7290n3b3.pdf
https://doi.org/10.1016/j.ajhg.2016.12.013

المؤلفون: Keppler‐Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham, John M., Geer, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

المساهمون: Intramural Research Program of the National Human Genome Research Institute, Wellcome Trust (Senior Research Fellowship in Clinical Science), Clinical Research Training Fellowship, UK National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, UK Medical Research Council Centre for Obesity and Related Metabolic Diseases

المصدر: American Journal of Medical Genetics Part A ; volume 164, issue 7, page 1713-1733 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.36552
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.36552
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36552
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.36552

المؤلفون: Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik-Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, DE MARCO, PATRIZIA, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán-Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A. Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl-Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik-Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan

المساهمون: Shashi, Vandana, Magiera, Maria M, Klein, Denni, Zaki, Maha, Schoch, Kelly, Rudnik-Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, DE MARCO, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán-Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A. Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Bori, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl-Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nichola, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik-Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan

مصطلحات موضوعية: cerebellum, cytosolic carboxypeptidase 1 (CCP1/AGTPBP1/NNA1), motor neuron, neurodegeneration, tubulin polyglutamylation, Neuroscience (all), Molecular Biology, Biochemistry, Genetics and Molecular Biology (all), Immunology and Microbiology (all)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30420557; info:eu-repo/semantics/altIdentifier/wos/WOS:000451913500001; volume:37 (23); firstpage:e100540-1; lastpage:e100540-12; numberofpages:12; journal:EMBO JOURNAL; http://hdl.handle.net/11567/932470; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056340322

الاتاحة: http://hdl.handle.net/11567/932470
https://doi.org/10.15252/embj.2018100540

المؤلفون: Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julian 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, Yapng, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F, Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F, Goldstein, David B, Bellen, Hugo J, Pena, Loren DM, Program for Undiagnosed Diseases (UD-PrOZA), the, Callens, Steven, Coucke, Paul, Terryn, Wim, Van Coster, Rudy

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297 ; ISSN: 1537-6605

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, RECURRENT DE-NOVO, NEURONAL CEROID-LIPOFUSCINOSIS, UNDIAGNOSED DISEASES NETWORK, DROSOPHILA-MELANOGASTER, MEMBRANE-PROTEIN, GENETIC-DISEASES, RETT-SYNDROME, GENOME, NEURODEGENERATION, EXPRESSION

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8618018; http://hdl.handle.net/1854/LU-8618018; http://dx.doi.org/10.1016/j.ajhg.2018.07.006; https://biblio.ugent.be/publication/8618018/file/8618019

الاتاحة: https://biblio.ugent.be/publication/8618018
http://hdl.handle.net/1854/LU-8618018
https://doi.org/10.1016/j.ajhg.2018.07.006
https://biblio.ugent.be/publication/8618018/file/8618019

المؤلفون: Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren Dm, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham, John M., Geer, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

المصدر: Orthopaedic Surgery Faculty Publications

مصطلحات موضوعية: CLOVES syndrome, Fibroadipose overgrowth, Macrodactyly, PIK3CA gene, Segmental overgrowth, Somatic mosaicism

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_orthosurg_facpubs/465

الاتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_orthosurg_facpubs/465