المؤلفون: Yan, Jingya, Kothur, Kavitha, Mohammad, Shekeeb, Chung, Jason, Patel, Shrujna, Jones, Hannah F., Keating, Brooke A., Han, Velda X., Webster, Richard, Ardern-Holmes, Simone, Antony, Jayne, Menezes, Manoj P., Tantsis, Esther, Gill, Deepak, Gupta, Sachin, Kandula, Tejaswi, Sampaio, Hugo, Farrar, Michelle A., Troedson, Christopher, Andrews, P Ian, Pillai, Sekhar C., Heng, Benjamin, Guillemin, Gilles J., Guller, Anna, Bandodkar, Sushil, Dale, Russell C.

المصدر: In eBioMedicine May 2023 91

المؤلفون: Ka, Amy, Taher, Amir, D'Souza, Stephanie, Barnes, Elizabeth H., Gupta, Sachin, Troedson, Christopher, Wade, Fiona, Teo, Olga, Dale, Russell C., Wong, Chong, Bleasel, Andrew F., Dexter, Mark, Kothur, Kavitha, Gill, Deepak

المصدر: In Epilepsy & Behavior Reports 2022 19

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المؤلفون: Wienholt, Louise, Kane, Alisa, Adelstein, Stephen, Richardson, Alexander, Kothur, Kavitha, Brilot, Fabienne, Dale, Russell C.

المصدر: In Pathology October 2021 53(6):753-758

المؤلفون: Jones, Hannah F., Han, Velda X., Patel, Shrujna, Gloss, Brian S., Soler, Nicolette, Ho, Alvin, Sharma, Suvasini, Kothur, Kavitha, Nosadini, Margherita, Wienholt, Louise, Hardwick, Chris, Barnes, Elizabeth H., Lim, Jacqueline R., Alshammery, Sarah, Nielsen, Timothy C., Wong, Melanie, Hofer, Markus J., Nassar, Natasha, Gold, Wendy, Brilot, Fabienne, Mohammad, Shekeeb S., Dale, Russell C.

المصدر: In Brain Behavior and Immunity May 2021 94:308-317

المؤلفون: Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian

المصدر: Houdayer , C , Phillips , A M , Chabbert , M , Bourreau , J , Maroofian , R , Houlden , H , Richards , K , Saadi , N W , Dad'ová , E , Van Bogaert , P , Rupin , M , Keren , B , Charles , P , Smol , T , Riquet , A , Pais , L , O'Donnell-Luria , A , VanNoy , G E , Bayat , A , Møller , R S , Olofsson , K , Abou Jamra , R , Syrbe , S , Dasouki , M , Seaver , L H , Sullivan , J A , Shashi , V , Alkuraya , F S , Poss , A F , Spence , J E , Schnur , R E , Forster , I C , Mckenzie , C E , Simons , C , Wang , M , Snell , P , Kothur , K , Buckley , M , Roscioli , T , Elserafy , N , Dauriat , B , Procaccio , V , Henrion , D , Lenaers , G , Colin , E , Verbeek , N E , Van Gassen , K L , Legendre , C , Bonneau , D , Reid , C A , Howell , K B , Ziegler , A & Legros , C 2024 ' Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders ' medRxiv .

مصطلحات الفهرس: workingPaper

URL: https://curis.ku.dk/portal/da/publications/mono-and-biallelic-variants-in-hcn2-cause-severe-neurodevelopmental-disorders(602b55ec-9937-4fd6-91b1-0c0f413ab3ff).html
https://doi.org/10.1101/2024.03.19.24303984
https://curis.ku.dk/ws/files/390507927/2024.03.19.24303984v1.full.pdf

المؤلفون: Musto, Elisa, Liao, Vivian W Y, Johannesen, Katrine M, Fenger, Christina D, Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern-Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I, Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M, Fazeli, Walid, Wouters, Leen, Miranda, Maria J, Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S, Ahring, Philip K, Gardella, Elena

المصدر: Musto , E , Liao , V W Y , Johannesen , K M , Fenger , C D , Lederer , D , Kothur , K , Fisk , K , Bennetts , B , Vrielynck , P , Delaby , D , Ceulemans , B , Weckhuysen , S , Sparber , P , Bouman , A , Ardern-Holmes , S , Troedson , C , Battaglia , D I , Goel , H , Feyma , T , Bakhtiari , S , Tjoa , L , Boxill , M , Demina , N , Shchagina , O , Dadali , E , Kruer , M , Cantalupo , G , Contaldo , I , Polster , T , Isidor , B , Bova , S M , Fazeli , W , Wouters , L , Miranda , M J , Darra , F , Pede , E , Le Duc , D , Jamra , R A , Küry , S , Proietti , J , McSweeney , N , Brokamp , E , Andrews , P I , Gouray Garcia , M , Chebib , M , Møller , R S , Ahring , P K & Gardella , E 2024 , ' GABRA1 -related disorders : from genetic to functional pathways ' , Annals of Neurology , vol. 95 , no. 1 , pp. 27-41 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/gabra1related-disorders(cb0d4a74-8f24-4a68-9649-02afdb7fad12).html
https://doi.org/10.1002/ana.26774

المؤلفون: Azevedo, Suzanna, Kothur, Kavitha, Gupta, Sachin, Webster, Richard, Dale, Russell C., Wade, Fiona, Gill, Deepak, Lah, Suncica

المصدر: In Epilepsy & Behavior November 2020 112

المؤلفون: Feroze, Nimra, Karim, Tasneem, Ostojic, Katarina, Mcintyre, Sarah, Barnes, Elizabeth H., Lee, Byoung Chan, Badawi, Nadia, Mohammad, Shekeeb S, Paget, Simon, Dale, Russell C., Gill, Deepak, Kothur, Kavitha

المصدر: Developmental Medicine & Child Neurology; Jun2024, Vol. 66 Issue 6, p793-803, 11p

مصطلحات موضوعية: EPILEPSY, CHILDREN with cerebral palsy, DRUG resistance, RECEIVER operating characteristic curves, CHILDREN with epilepsy, CHILDHOOD epilepsy

مصطلحات جغرافية: AUSTRALIAN Capital Territory, NEW South Wales

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