المؤلفون: Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M., Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C., Ellis, Colin A., Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, el Achkar, Christelle M., Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S., Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo

المصدر: Xian , J , Parthasarathy , S , Ruggiero , S M , Balagura , G , Fitch , E , Helbig , K , Gan , J , Ganesan , S , Kaufman , M C , Ellis , C A , Lewis-Smith , D , Galer , P , Cunningham , K , O'Brien , M , Cosico , M , Baker , K , Darling , A , Veiga de Goes , F , el Achkar , C M , Doering , J H , Furia , F , García-Cazorla , Á , Gardella , E ....

العلاقة: https://research.vumc.nl/en/publications/0f814190-9b78-4c0e-8faa-93078780b2a3Test

الإتاحة: https://doi.org/10.1093/brain/awab327Test
https://research.vumc.nl/en/publications/0f814190-9b78-4c0e-8faa-93078780b2a3Test
http://www.scopus.com/inward/record.url?scp=85127359568&partnerID=8YFLogxKTest

المؤلفون: el Achkar, Christelle M., Harrer, Merle, Smith, Lacey, Kelly, McKenna, Iqbal, Sumaiya, Maljevic, Snezana, Niturad, Cristina E., Vissers, Lisenka E.L.M., Poduri, Annapurna, Yang, Edward, Lal, Dennis, Lerche, Holger, Møller, Rikke S., Olson, Heather E.

المصدر: el Achkar , C M , Harrer , M , Smith , L , Kelly , M , Iqbal , S , Maljevic , S , Niturad , C E , Vissers , L E L M , Poduri , A , Yang , E , Lal , D , Lerche , H , Møller , R S , Olson , H E & for the GABRB2 Working Group 2021 , ' Characterization of the GABRB2-Associated Neurodevelopmental Disorders ' , Annals of Neurology , vol. 89 , no. 3 , pp. 573-586 . https://doi.org/10.1002/ana.25985Test

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/3b8f488f-6efb-4a97-aacb-c6f06f3328efTest

الإتاحة: https://doi.org/10.1002/ana.25985Test
https://portal.findresearcher.sdu.dk/da/publications/3b8f488f-6efb-4a97-aacb-c6f06f3328efTest
https://findresearcher.sdu.dk/ws/files/179656449/ana.25985.pdfTest

المؤلفون: Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O’Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna

المصدر: Brain ; volume 145, issue 5, page 1668-1683 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awab327Test

المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Task Force for Neonatal Genomics, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C, Nolan, Melinda A, Snell, Russell G, Lehnert, Klaus, Sadleir, Lynette G, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J, Lyons, Michael J, Leonhard, Jennifer, Kringlen, Gabriel, Casas, Kari, El Achkar, Christelle M, Smith, Lacey A, Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J, Rankin, Julia, Zeman, Adam, Raymond, F Lucy, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Deciphering Developmental Disorders Study, Hedrich, Ulrike BS, Scheffer, Ingrid E, Helbig, Ingo, Zamponi, Gerald W, Lerche, Holger, Mefford, Heather C

مصطلحات موضوعية: Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study

وصف الملف: application/pdf

العلاقة: American journal of human genetics; S0002-9297(19)30060-6; https://hdl.handle.net/10161/24601Test

الإتاحة: https://hdl.handle.net/10161/24601Test

المؤلفون: Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick W, Andrews, P Ian, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L

المصدر: Ann Neurol ; ISSN:1531-8249 ; Volume:90 ; Issue:2

العلاقة: https://doi.org/10.1002/ana.26147Test; https://pubmed.ncbi.nlm.nih.gov/34185323Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324566Test/

الإتاحة: https://doi.org/10.1002/ana.26147Test
https://pubmed.ncbi.nlm.nih.gov/34185323Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324566Test/

المؤلفون: Achkar, Christelle M.^1,2 (AUTHOR), Harrer, Merle³ (AUTHOR), Smith, Lacey¹ (AUTHOR), Kelly, McKenna^1,4 (AUTHOR), Iqbal, Sumaiya⁵ (AUTHOR), Maljevic, Snezana^3,6 (AUTHOR), Niturad, Cristina E.³ (AUTHOR), Vissers, Lisenka E. L. M.⁷ (AUTHOR), Poduri, Annapurna^1,2 (AUTHOR), Yang, Edward⁸ (AUTHOR), Lal, Dennis⁹ (AUTHOR), Lerche, Holger³ (AUTHOR), Møller, Rikke S.^10,11 (AUTHOR), Olson, Heather E.^1,2 (AUTHOR) heather.olson@childrens.harvard.edu, El Achkar, Christelle M^12,13 (AUTHOR), GABRB2 Working Group (CORPORATE AUTHOR)

المصدر: Annals of Neurology. Mar2021, Vol. 89 Issue 3, p573-586. 14p.

مصطلحات موضوعية: *MOVEMENT disorders, *DISABILITIES, *DEVELOPMENTAL disabilities, *XENOPUS laevis, *DISEASES, *ALLOSTERIC regulation, *GAIN-of-function mutations

المؤلفون: Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A.

المساهمون: National Center for Advancing Translational Sciences, National Institute of Neurological Disorders and Stroke

المصدر: Annals of Neurology ; volume 88, issue 6, page 1153-1164 ; ISSN 0364-5134 1531-8249

الإتاحة: https://doi.org/10.1002/ana.25904Test

المؤلفون: el Achkar, Christelle M., Harrer, Merle, Smith, Lacey, Kelly, McKenna, Iqbal, Sumaiya, Maljevic, Snezana, Niturad, Cristina E., Vissers, Lisenka E. L. M., Poduri, Annapurna, Yang, Edward, Lal, Dennis, Lerche, Holger, Møller, Rikke S., Olson, Heather E.

المساهمون: Deutsche Forschungsgemeinschaft, Fonds Wetenschappelijk Onderzoek, Ministerstvo Zdravotnictví Ceské Republiky, National Institute of Neurological Disorders and Stroke, Novo Nordisk Foundation Center for Basic Metabolic Research, Universiteit Antwerpen

المصدر: Annals of Neurology ; volume 89, issue 3, page 573-586 ; ISSN 0364-5134 1531-8249

الإتاحة: https://doi.org/10.1002/ana.25985Test

المؤلفون: Smith, Lacey, Singhal, Nilika, El Achkar, Christelle M., Truglio, Gessica, Rosen Sheidley, Beth, Sullivan, Joseph, Poduri, Annapurna

المساهمون: National Institutes of Health

المصدر: Epilepsia ; volume 59, issue 3, page 679-689 ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.14003Test

المؤلفون: Smith, Lacey A., Ullmann, Jeremy F. P., Olson, Heather E., Achkar, Christelle M. El, Truglio, Gessica, Kelly, McKenna, Rosen-Sheidley, Beth, Poduri, Annapurna

المصدر: Journal of Child Neurology ; volume 32, issue 4, page 429-436 ; ISSN 0883-0738 1708-8283

مصطلحات موضوعية: Neurology (clinical), Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1177/0883073816685654Test