المؤلفون: Scala, Marcello, Bradley, Clarrisa A, Howe, Jennifer L, Trost, Brett, Salazar, Nelson Bautista, Shum, Carole, Mendes, Marla, Reuter, Miriam S, Anagnostou, Evdokia, MacDonald, Jeffrey R, Ko, Sangyoon Y, Frankland, Paul W, Charlebois, Jessica, Elsabbagh, Mayada, Granger, Leslie, Anadiotis, George, Pullano, Verdiana, Brusco, Alfredo, Keller, Roberto, Parisotto, Sarah, Pedro, Helio F, Lusk, Laina, McDonnell, Pamela Pojomovsky, Helbig, Ingo, Mullegama, Sureni V, Douine, Emilie D, Corona, Rosario Ivetth, Russell, Bianca E, Nelson, Stanley F, Graziano, Claudio, Schwab, Maria, Simone, Laurie, Zara, Federico, Scherer, Stephen W

المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:112 ; Issue:1

مصطلحات موضوعية: DDX53, MSSNG, PTCHD1-AS, RNA helicase, SFARI, Xp22.11 locus, autism, autism spectrum disorder, neurodevelopmental disorders, non-coding RNA

Relation: https://doi.org/10.1016/j.ajhg.2024.11.003; https://pubmed.ncbi.nlm.nih.gov/39706195

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.11.003
https://pubmed.ncbi.nlm.nih.gov/39706195

المؤلفون: Kassabian, Benedetta, Fenger, Christina Duhring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt, Anja, Vidal, Anna Abuli, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Moller, Rikke S., Johannesen, Katrine M., Rubboli, Guido

المساهمون: HUS Children and Adolescents, Children's Hospital, Lastenneurologian yksikkö

مصطلحات موضوعية: Epilepsy, Intellectual disability, Intrafamilial variability, Neurodevelopmental disorders, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10138/563949; 85165951571; 001034872700001

الاتاحة: http://hdl.handle.net/10138/563949

المؤلفون: Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido

المصدر: Kassabian , B , Fenger , C D , Willems , M , Aledo-Serrano , A , Linnankivi , T , McDonnell , P P , Lusk , L , Jepsen , B S , Bayat , M , Kattentidt-Mouravieva , A A , Vidal , A A , Valero-Lopez , G , Alarcon-Martinez , H , Goodspeed , K , van Slegtenhorst , M , Barakat , T S , Møller , R S , Johannesen , K M & Rubboli , G 2023 , ' Corrigendum : Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (Frontiers in Neuroscience, (2023), ....

مصطلحات موضوعية: epilepsy, intellectual disability, intrafamilial variability, neurodevelopmental disorders, SLC6A1

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/b10e839e-864d-4493-abf9-87ff5080af2b

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b10e839e-864d-4493-abf9-87ff5080af2b
https://doi.org/10.3389/fnins.2023.1270299
https://findresearcher.sdu.dk/ws/files/239277814/Open_Access_Version.pdf

المؤلفون: Parthasarathy, Shridhar, Ruggiero, Sarah McKeown, Gelot, Antoinette, Soardi, Fernanda C, Ribeiro, Bethânia F R, Pires, Douglas E V, Ascher, David B, Schmitt, Alain, Rambaud, Caroline, Represa, Alfonso, Xie, Hongbo M, Lusk, Laina, Wilmarth, Olivia, McDonnell, Pamela Pojomovsky, Juarez, Olivia A, Grace, Alexandra N, Buratti, Julien, Mignot, Cyril, Gras, Domitille, Nava, Caroline, Pierce, Samuel R, Keren, Boris, Kennedy, Benjamin C, Pena, Sergio D J, Helbig, Ingo, Cuddapah, Vishnu Anand

المصدر: The American Journal of Human Genetics ; volume 109, issue 12, page 2253-2269 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.11.002
https://api.elsevier.com/content/article/PII:S0002929722004931?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722004931?httpAccept=text/plain

المؤلفون: Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt, Anja, Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido

المصدر: Kassabian , B , Fenger , C D , Willems , M , Aledo-Serrano , A , Linnankivi , T , McDonnell , P P , Lusk , L , Jepsen , B S , Bayat , M , Kattentidt , A , Vidal , A A , Valero-Lopez , G , Alarcon-Martinez , H , Goodspeed , K , van Slegtenhorst , M , Barakat , T S , Møller , R S , Johannesen , K M & Rubboli , G 2023 , ' Intrafamilial variability in SLC6A1 -related neurodevelopmental disorders : [Inkl. Correction] ' , Frontiers in Neuroscience , vol. 17 , 1219262 .

مصطلحات الفهرس: epilepsy, intellectual disability, intrafamilial variability, neurodevelopmental disorders, SLC6A1, article

URL: https://curis.ku.dk/portal/da/publications/intrafamilial-variability-in-slc6a1related-neurodevelopmental-disorders(42cf2976-1e63-4451-b241-d3fbb829bc6a).html
https://doi.org/10.3389/fnins.2023.1219262
https://curis.ku.dk/ws/files/363285986/fnins_17_1219262.pdf

المؤلفون: Molisani, Sara E., Parikh, Darshana, DiGiovine, Marissa, Dlugos, Dennis, Fitzgerald, Mark P., Fried, Lawrence, Helbig, Ingo, Kessler, Sudha Kilaru, McDonnell, Pamela Pojomovsky, Melamed, Susan, Prelack, Marisa S., Sharif, Uzma, Tefft, Sarah, Tencer, Jaclyn, Witzman, Stephanie, Shaw, Kathy, Abend, Nicholas S.

المصدر: Epilepsia ; volume 64, issue 10, page 2818-2826 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.17723
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17723

المؤلفون: Scala, Marcello, Bradley, Clarrisa A, Howe, Jennifer L, Trost, Brett, Salazar, Nelson Bautista, Shum, Carole, Reuter, Miriam S, MacDonald, Jeffrey R, Ko, Sangyoon Y, Frankland, Paul W, Granger, Leslie, Anadiotis, George, Pullano, Verdiana, Brusco, Alfredo, Keller, Roberto, Parisotto, Sarah, Pedro, Helio F, Lusk, Laina, McDonnell, Pamela Pojomovsky, Helbig, Ingo, Mullegama, Sureni V, Douine, Emilie D, Russell, Bianca E, Nelson, Stanley F, Zara, Federico, Scherer, Stephen W

المصدر: medRxiv

مصطلحات موضوعية: Autism, Autism spectrum disorder, DDX53, RNA helicase, Xp22.11 locus

Relation: https://doi.org/10.1101/2023.12.21.23300383; https://pubmed.ncbi.nlm.nih.gov/38234782; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10793518/

الاتاحة: https://doi.org/10.1101/2023.12.21.23300383
https://pubmed.ncbi.nlm.nih.gov/38234782
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10793518/

المؤلفون: McDonnell, Pamela Pojomovsky, Ortiz, Yessenia, Abend, Nicholas S., Kaufman, Michael C., Xian, Julie, Gonzalez, Alexander K., Molisani, Sara, Helbig, Ingo

الاتاحة: http://dx.doi.org/10.2139/ssrn.4719568