학술논문
'학술논문'
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1~10
Academic Journal
Ma, Alan; Yousoof, Saira; Grigg, John R.; Flaherty, Maree; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Fisk, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Karaconji, Tanya; Elder, James E.; Enriquez, Annabelle; Wilson, Meredith; Amor, David J.; Stutterd, Chloe A.; Kamien, Benjamin; Nelson, John; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn V.
In Genetics in Medicine October 2020 22(10):1623-1632
Academic Journal
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
Academic Journal
Hertzog, Ashley; Selvanathan, Arthavan; Halligan, Rebecca; Fazio, Timothy; Jong, Gerard; Bratkovic, Drago; Bhattacharya, Kaustuv; Tolun, Adviye Ayper; Bennetts, Bruce; Fisk, Katrina
JIMD Reports. July 2022, Vol. 63 Issue 4, p271, 5 p.
Electronic Resource
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
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 .
Academic Journal
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; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena
Academic Journal
Bartlett, Essra; Archibald, Alison D.; Francis, David; Ling, Ling; Thomas, Rob; Chandler, Gabrielle; Ward, Lisa; O'Farrell, Gemma; Pandelache, Alison; Delatycki, Martin B.; Bennetts, Bruce H.; Ho, Gladys; Fisk, Katrina; Baker, Emma K.; Amor, David J.; Godler, David E.
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p304-309, 6p
Academic Journal
Tanudisastro, Hope A.; Holman, Katherine; Ho, Gladys; Farnsworth, Elizabeth; Fisk, Katrina; Gayagay, Thet; Hackett, Emma; Jenkins, Gemma; Krishnaraj, Rahul; Lai, Tiffany; Wong, Karen; Patel, Chirag; Mallawaarachchi, Amali; Mallett, Andrew J.; Bennetts, Bruce; Alexander, Stephen I.; McCarthy, Hugh J.
NPJ Genomic Medicine; 3/4/2021, Vol. 6 Issue 1, p1-9, 9p
Academic Journal
Tudini, Emma; Andrews, James; Lawrence, David M.; King-Smith, Sarah L.; Baker, Naomi; Baxter, Leanne; Beilby, John; Bennetts, Bruce; Beshay, Victoria; Black, Michael; Boughtwood, Tiffany F.; Brion, Kristian; Cheong, Pak Leng; Christie, Michael; Christodoulou, John; Chong, Belinda; Cox, Kathy; Davis, Mark R.; Dejong, Lucas; Dinger, Marcel E.; Doig, Kenneth D.; Douglas, Evelyn; Dubowsky, Andrew; Ellul, Melissa; Fellowes, Andrew; Fisk, Katrina; Fortuno, Cristina; Friend, Kathryn; Gallagher, Renee L.; Gao, Song; Hackett, Emma; Hadler, Johanna; Hipwell, Michael; Ho, Gladys; Hollway, Georgina; Hooper, Amanda J.; Kassahn, Karin S.; Krishnaraj, Rahul; Lau, Chiyan; Huong Le; San Leong, Huei; Lundie, Ben; Lunke, Sebastian; Marty, Anthony; McPhillips, Mary; Nguyen, Lan T.; Nones, Katia; Palmer, Kristen; Pearson, John, V; Quinn, Michael C. J.; Rawlings, Lesley H.; Sadedin, Simon; Sanchez, Louisa; Schreiber, Andreas W.; Sigalas, Emanouil; Simsek, Aygul; Soubrier, Julien; Stark, Zornitza; Thompson, Bryony A.; James, U.; Vakulin, Cassandra G.; Wells, Amanda, V; Wise, Cheryl A.; Woods, Rick; Ziolkowski, Andrew; Brion, Marie-Jo; Scott, Hamish S.; Thorne, Natalie P.; Spurdle, Amanda B.; Shariant Consortium
Academic Journal
Bartlett, Essra; Archibald, Alison D.; Francis, David; Ling, Ling; Thomas, Rob; Chandler, Gabrielle; Ward, Lisa; O'Farrell, Gemma; Pandelache, Alison; Delatycki, Martin B.; Bennetts, Bruce H.; Ho, Gladys; Fisk, Katrina; Baker, Emma K.; Amor, David J.; Godler, David E.
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