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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.

Academic Journal

Johannesen, Katrine M.; Nielsen, Jimmi; Sabers, Anne; Isidor, Bertrand; Kattentidt-Mouravieva, Anja A.; Zieglgänsberger, Dominik; Heidlebaugh, Alexis R.; Oetjens, Kathryn F.; Vidal, Anna Abuli; Christensen, Jakob; Tiller, Jacob; Freed, Amber N.; Møller, Rikke S.; Rubboli, Guido

Frontiers in Neuroscience; 2023, p1-7, 7p

Full Text (ProQuest Central) Open Access (EBSCO) Web of Science Scopus Find it@PNU

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Academic Journal

Stefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis

BRAIN; AUG 30 2023, 11p.

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis

Electronic Resource

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]; Fonds National de la Recherche - FnR [sponsor]; Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nabavi Nouri, Maryam; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S.; Lal, Dennis

Open Access (OAIster)

SLC6A1 variant pathogenicity, molecular function and phenotype:a genetic and clinical analysis

Electronic Resource

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E.O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing Qiong; Wuster, Arthur; Møller, Rikke S.; Lal, Dennis

Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , P , Freed , A S , Futtrup , L , Balslev , T , Abulí , A , Danvoye , L , Lederer , D , Balci , T , Nouri , M N , Butler , E , Drewes , S , van Engelen , K , Howell , K B , Khoury , J , May , P , Trinidad , M , Froelich , S , Lemke , J R , Tiller , J , Freed , A N , Kang , J Q , Wuster , A , Møller , R S & Lal , D 2023 , ' SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis ' , Brain : a journal of neurology , vol. 146 , no. 12 , pp. 5198-5208 .

Open Access (OAIster)

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