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, vol 107, iss 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, Preschool, Craniofacial Abnormalities, Female, Genetic Diseases, Inborn, Growth Disorders, Heterozygote, Humans, Infant, Intellectual Disability, Male, Microcephaly, Middle Aged

جغرافية الموضوع: 352 - 363

وصف الملف: application/pdf

العلاقة: qt6n82g05c; https://escholarship.org/uc/item/6n82g05cTest

الإتاحة: https://escholarship.org/uc/item/6n82g05cTest

المؤلفون: Zahra, Qandeel, Cakmak, Cagla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Sacoto, Maria J. Guillen, Malik, Sajid, Tolun, Aslihan

المصدر: JOURNAL OF HUMAN GENETICS 65(12) 1115-1123

العلاقة: https://aperta.ulakbim.gov.tr/record/6527Test; oai:zenodo.org:6527

الإتاحة: https://aperta.ulakbim.gov.tr/record/6527Test

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, vol 104, iss 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, 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

جغرافية الموضوع: 542 - 552

وصف الملف: application/pdf

العلاقة: qt9q1277p4; https://escholarship.org/uc/item/9q1277p4Test

الإتاحة: https://escholarship.org/uc/item/9q1277p4Test

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, vol 40, iss 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, glycoside, nucleotide sugar transporter, UDP-galactose, Clinical Sciences, Genetics & Heredity

جغرافية الموضوع: 908 - 925

وصف الملف: application/pdf

العلاقة: qt48w6q46x; https://escholarship.org/uc/item/48w6q46xTest

الإتاحة: https://escholarship.org/uc/item/48w6q46xTest

المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics, vol 102, iss 5

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female

جغرافية الموضوع: 744 - 759

وصف الملف: application/pdf

العلاقة: qt7rq0h7dd; https://escholarship.org/uc/item/7rq0h7ddTest

الإتاحة: https://escholarship.org/uc/item/7rq0h7ddTest

المؤلفون: Schnur, Rhonda E, Yousaf, Sairah, Liu, James, Chung, Wendy K, Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M, Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J, Pichurin, Pavel N, Olson, Rory J, Graham, Gail E, Osmond, Matthew, Contreras-García, Gustavo A, Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A, Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J Guillen, Wentzensen, Ingrid M, Scarano, Maria I, Juusola, Jane, Prada, Carlos E, Hufnagel, Robert B

المصدر: Pediatrics Research and Scholarship

مصطلحات موضوعية: Abnormalities, Multiple, Animals, Ectodermal Dysplasia, Humans, Limb Deformities, Congenital, Ubiquitin-Activating Enzymes, Zebrafish

وصف الملف: application/pdf

العلاقة: https://digitalrepository.unm.edu/peds_pubs/554Test; https://digitalrepository.unm.edu/cgi/viewcontent.cgi?article=1545&context=peds_pubsTest

الإتاحة: https://digitalrepository.unm.edu/peds_pubs/554Test
https://digitalrepository.unm.edu/cgi/viewcontent.cgi?article=1545&context=peds_pubsTest

المؤلفون: Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M, Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P, Callewaert, Bert L, Cereda, Anna, Cousin, Margot A, Del Rey Jimenez, Juan C, 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 Mok, Stadheim, Barbro Fossøy, Sullivan, Jennifer A, Švantnerová, 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: Paediatrics Publications

مصطلحات موضوعية: Autism Spectrum Disorder, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Female, Genes, X-Linked, Genotype, Humans, Intellectual Disability, Male, Phenotype, Whole Exome Sequencing, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/562Test; https://ir.lib.uwo.ca/context/paedpub/article/1569/viewcontent/s41436_020_00993_y.pdfTest

الإتاحة: https://doi.org/10.1038/s41436-020-00993-yTest
https://ir.lib.uwo.ca/paedpub/562Test
https://ir.lib.uwo.ca/context/paedpub/article/1569/viewcontent/s41436_020_00993_y.pdfTest

المؤلفون: Kour, Sukhleen, Rajan, Deepa S, Fortuna, Tyler R, Anderson, Eric N, Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S, Barnett, Sarah S, Cousin, Margot A, Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H, Rajasundaram, Dhivyaa, Innes, A Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K, Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R, Landers, John E, Agnihotri, Sameer, Andriescu, E Corina, Moody, Shade B, Phornphutkul, Chanika, Sacoto, Maria J Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M, Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G, Wagner, Matias, Issa, Mahmoud Y, Elbendary, Hasnaa M, Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G, Zaki, Maha S, Senderek, Jan, Pandey, Udai Bhan

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

العلاقة: https://mediatum.ub.tum.de/1655296Test

الإتاحة: https://doi.org/10.1038/s41467-021-22627-wTest
https://mediatum.ub.tum.de/1655296Test

المؤلفون: Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M, Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P, Callewaert, Bert L, 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 Fossøy, Sullivan, Jennifer A, Švantnerová, 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

المساهمون: Institut für Humangenetik, Lehrstuhl für Neurogenetik (Prof. Winkelmann)

مصطلحات موضوعية: info:eu-repo/classification/ddc

العلاقة: https://mediatum.ub.tum.de/1618237Test

الإتاحة: https://doi.org/10.1038/s41436-020-00993-yTest
https://mediatum.ub.tum.de/1618237Test

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/