المؤلفون: Silas Yip, Kristina Calli, Ying Qiao, Brett Trost, Stephen W. Scherer, M. E. Suzanne Lewis

المصدر: Genes, Vol 14, Iss 12, p 2122 (2023)

مصطلحات موضوعية: MYT1L, autism spectrum disorder (ASD), neurodevelopmental disorder, single nucleotide variant (SNV), de novo, whole genome sequencing (WGS), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/12/2122Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/2a76c74639314f9484caa47f3dc24fd4Test

المؤلفون: Chunchun Hu, Linlin He, Huiping Li, Yanhua Ding, Kaifeng Zhang, Dongyun Li, Guoqing Zhu, Bingbing Wu, Xiu Xu, Qiong Xu

المصدر: Genes, Vol 13, Iss 1010, p 1010 (2022)

مصطلحات موضوعية: autism spectrum disorder, targeted panel sequencing, genetic variants, MYT1L, SLC26A4, Genetics, QH426-470

العلاقة: https://www.mdpi.com/2073-4425/13/6/1010Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/49063c2155dd444593d4061d1d259f17Test

الإتاحة: https://doi.org/10.3390/genes13061010Test
https://doaj.org/article/49063c2155dd444593d4061d1d259f17Test

المؤلفون: Loid, Petra, Mäkitie, Riikka, Costantini, Alice, Viljakainen, Heli, Pekkinen, Minna, Mäkitie, Outi

المساهمون: Clinicum, Children's Hospital, University of Helsinki, Department of Food and Nutrition, Christel Lamberg-Allardt / Research Group, Lastentautien yksikkö, HUS Children and Adolescents, HUS Internal Medicine and Rehabilitation

مصطلحات موضوعية: hyperphagia, infancy-onset obesity, MYT1L, GENE, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: Lastentautien Tutkimussaatio; Novo Nordisk Foundation; Paivikki ja Sakari Sohlbergin Saatio; Samfundet Folkhalsan; Sigrid Juseliuksen Saatio; Suomen Akatemia; Vetenskapsradet; Loid , P , Mäkitie , R , Costantini , A , Viljakainen , H , Pekkinen , M & Mäkitie , O 2018 , ' A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability ' , American Journal of Medical Genetics. Part A , vol. 176 , no. 9 , pp. 1972-1975 . https://doi.org/10.1002/ajmg.a.40370Test; ORCID: /0000-0002-7486-3437/work/49416239; ORCID: /0000-0002-4547-001X/work/155651976; http://hdl.handle.net/10138/325654Test; 2277141a-ccb5-4f7c-a783-b45648b0b6e5; 85051027214; 000445271900026

الإتاحة: http://hdl.handle.net/10138/325654Test

المؤلفون: Windheuser, I.C., Becker, J., Cremer, K., Hundertmark, H., Yates, L.M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K.U., Zink, A.M., Lessel, D., Bierhals, T., Herget, T., Johannsen, J., Denecke, J., Wohlleber, E., Strom, T.M., Wieczorek, D., Bertoli, M., Colombo, R., Hempel, M., Engels, H.

المصدر: Am. J. Med. Genet. A 182, 1021-1031 (2020)

مصطلحات موضوعية: Chromosomal Microarray, Intellectual Disability, Microdeletion 2p25, Myt1l, Obesity, Whole Exome Sequencing

الوقت: 3

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32065501; info:eu-repo/semantics/altIdentifier/wos/WOS:000513711800001; info:eu-repo/semantics/altIdentifier/isbn/1552-4825; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58464Test; urn:isbn:1552-4825; urn:issn:0148-7299; urn:issn:1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.a.61515Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58464Test

المؤلفون: Tran, Melissa

مصطلحات موضوعية: Biochemistry, Beta Cells, Myt1l, Reprogramming, Transdifferentiation

الوصول الحر: https://escholarship.org/uc/item/4fs1g903Test

المؤلفون: Tomaz, Diogo Miguel Rosa

المساهمون: Castro, Diogo, Solá, Susana, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Ascl1, Neuronal Reprogramming, Notch signalling pathway, MyT1L, Hes1, Teses de mestrado - 2016, Ciências da Saúde

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10451/25009Test

المؤلفون: Chen, Jiayang

المصدر: Arts & Sciences Electronic Theses and Dissertations

مصطلحات موضوعية: Epigenetics, Mouse model, MYT1L, Neurodevelopmental disorder, Transcription Factor

وصف الملف: application/pdf

العلاقة: https://openscholarship.wustl.edu/art_sci_etds/2838Test; https://openscholarship.wustl.edu/context/art_sci_etds/article/3917/viewcontent/Chen_wustl_0252D_13936.pdfTest

الإتاحة: https://doi.org/10.7936/300g-g159Test
https://openscholarship.wustl.edu/art_sci_etds/2838Test
https://openscholarship.wustl.edu/context/art_sci_etds/article/3917/viewcontent/Chen_wustl_0252D_13936.pdfTest

المؤلفون: Boeri, Silvia, Scala, Marcello, Madia, Francesca, Perucco, Francesca, Vozzi, Diego, Capra, Valeria, Zara, Federico, Nobili, Lino, Mancardi, Maria Margherita

المساهمون: Boeri, Silvia, Scala, Marcello, Madia, Francesca, Perucco, Francesca, Vozzi, Diego, Capra, Valeria, Zara, Federico, Nobili, Lino, Mancardi, Maria Margherita

مصطلحات موضوعية: MYT1L, epileptic encephalopathy, exome sequencing, mosaicism, refractory seizures

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37518898; info:eu-repo/semantics/altIdentifier/wos/WOS:001044386900001; firstpage:1; lastpage:6; numberofpages:6; journal:EPILEPTIC DISORDERS; https://hdl.handle.net/11567/1140272Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85166913997

الإتاحة: https://doi.org/10.1002/epd2.20141Test
https://hdl.handle.net/11567/1140272Test

المؤلفون: Chen, Jiayang

المصدر: Arts & Sciences Electronic Theses and Dissertations

مصطلحات موضوعية: Epigenetics, Mouse model, MYT1L, Neurodevelopmental disorder, Transcription Factor, Developmental Biology, Genetics, Nanoscience and Nanotechnology

وصف الملف: application/pdf

العلاقة: https://openscholarship.wustl.edu/art_sci_etds/2790Test; https://openscholarship.wustl.edu/cgi/viewcontent.cgi?article=3842&context=art_sci_etdsTest

الإتاحة: https://openscholarship.wustl.edu/art_sci_etds/2790Test
https://openscholarship.wustl.edu/cgi/viewcontent.cgi?article=3842&context=art_sci_etdsTest

المؤلفون: Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frederic, Le Guyader, Gwenael, Bruel, Ange-Line, Denomme-Pichon, Anne-Sophie, Faivre, Laurence, Mau-Them, Frederic Tran, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gerard, Benedicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stephanie, Heron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Francoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlene, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-Francois, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gael, Lecoquierre, Francois

المصدر: HUMAN GENETICS ; ISSN: 0340-6717 ; ISSN: 1432-1203

مصطلحات موضوعية: Medicine and Health Sciences, CAUSES INTELLECTUAL DISABILITY, FINGER TRANSCRIPTION FACTORS, ZINC-FINGER, NERVOUS-SYSTEM, EARLY-ONSET, MYT1L, FAMILY, ARCHITECTURE, MUTATIONS, OXYTOCIN

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8731055Test; http://hdl.handle.net/1854/LU-8731055Test; http://dx.doi.org/10.1007/s00439-021-02383-zTest; https://biblio.ugent.be/publication/8731055/file/8731056Test

الإتاحة: https://doi.org/10.1007/s00439-021-02383-zTest
https://biblio.ugent.be/publication/8731055Test
http://hdl.handle.net/1854/LU-8731055Test
https://biblio.ugent.be/publication/8731055/file/8731056Test