-
1دورية أكاديمية
المؤلفون: Sacoto, Maria J Guillen, Tchasovnikarova, Iva A, Torti, Erin, Forster, Cara, Andrew, E Hallie, Anselm, Irina, Baranano, Kristin W, Briere, Lauren C, Cohen, Julie S, Craigen, William J, Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J, Fatemi, Ali, Fraser, Jamie L, Gallagher, Renata C, Guerin, Andrea, Haynes, Devon, High, Frances A, Inglese, Cara N, Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S, Morel, Chantal F, Mu, Weiyi, Muller, Eric A, Nance, Jessica, Natowicz, Marvin R, Numis, Adam L, Ostrem, Bridget, Pappas, John, Stafstrom, Carl E, Streff, Haley, Sweetser, David A, Szybowska, Marta, Network, Undiagnosed Diseases, Walker, Melissa A, Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G, Yoon, Grace, Kingston, Robert E, Juusola, Jane
المصدر: American Journal of Human Genetics. 107(2)
مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Congenital Structural Anomalies, Clinical Research, Dental/Oral and Craniofacial Disease, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Craniofacial Abnormalities, Female, Genetic Diseases, Inborn, Growth Disorders, Heterozygote, Humans, Infant, Intellectual Disability, Male, Microcephaly, Middle Aged, Mutation, Neurodevelopmental Disorders, Phenotype, Transcription Factors, Young Adult, Undiagnosed Diseases Network, CMT2Z, Leigh-like disease, MORC2, developmental delay, intellectual disability, microcephaly, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6n82g05cTest
-
2دورية أكاديمية
المؤلفون: Palmer, Elizabeth E, Hong, Seungbeom, Zahrani, Fatema Al, Hashem, Mais O, Aleisa, Fajr A, Ahmed, Heba M Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E, Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P, Cowley, Mark J, Dinger, Marcel, Rosenfeld, Jill A, Xiao, Rui, Cho, Megan T, Yakubu, Suliat F, Henderson, Lindsay B, Sacoto, Maria J Guillen, Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V, Jones, Marilyn C, Lindstrom, Kristin, Bristol, Ruth E, Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P, Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K, Alkuraya, Fowzan S, Arold, Stefan T
المصدر: American Journal of Human Genetics. 104(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurodegenerative, Rare Diseases, Genetics, Pediatric, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Amino Acid Motifs, Child, Child, Preschool, Female, Genetic Variation, Humans, Infant, Male, Nerve Tissue Proteins, Neurocognitive Disorders, Phenotype, Prognosis, Repetitive Sequences, Nucleic Acid, Syndrome, HX repeat, allelic disorders, developmental delay, dysmorphic, intellectual disability, 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/9q1277p4Test
-
3دورية أكاديمية
المؤلفون: Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert, Cereda, Anna, Cousin, Margot A., Jimenez, Juan C. Del Rey, Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossoy, Sullivan, Jennifer A., Svantnerova, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366
مصطلحات موضوعية: Medicine and Health Sciences, DOSAGE COMPENSATION, TRANSCRIPTIONAL REGULATION, MSL COMPLEX, ACETYLATION, MUTATIONS, DOMAIN, DECAY, MOF, autism, developmental delay, histone acetylation, MSL3, X-linked
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8687772Test; http://hdl.handle.net/1854/LU-8687772Test; http://dx.doi.org/10.1038/s41436-020-00993-yTest; https://biblio.ugent.be/publication/8687772/file/8692632Test
الإتاحة: https://doi.org/10.1038/s41436-020-00993-yTest
https://biblio.ugent.be/publication/8687772Test
http://hdl.handle.net/1854/LU-8687772Test
https://biblio.ugent.be/publication/8687772/file/8692632Test -
4دورية أكاديمية
المؤلفون: Manole, Andreea, Efthymiou, Stephanie, O'Connor, Emer, Mendes, Marisa, Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, ASLANGER, Ayça Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Sacoto, Maria J. Guillen, Si, Yue, Telegrafi, Aida, Andrews, Marisa, Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frederic, van Ravenwaaij, Conny, Fock, Annemarie J. M., Stevens, Servi J. C., Bahler, Jurg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desiree E. C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshoj, Tina Duelund, Karstensen, Helena Gasdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry
المساهمون: ASLANGER, Ayça Dilruba
مصطلحات موضوعية: Aminoacyl-tRNA synthetase, Developmental delay, Epilepsy
وصف الملف: application/pdf
العلاقة: Manole A., Efthymiou S., O-Connor E., Mendes M., Jennings M., Maroofian R., Davagnanam I., Mankad K., Lopez M. R. , Salpietro V., et al., -De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects-, AMERICAN JOURNAL OF HUMAN GENETICS, cilt.107, ss.311-324, 2020; http://hdl.handle.net/20.500.12645/23787Test; https://pubmed.ncbi.nlm.nih.gov/32738225Test/; WOS:000558491800011; 85088934445
الإتاحة: https://doi.org/20.500.12645/23787Test
https://doi.org/10.1016Test/j.ajhg.2020.06.016
https://hdl.handle.net/20.500.12645/23787Test
https://pubmed.ncbi.nlm.nih.gov/32738225Test/