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American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, p. 164
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role... 
neurodevelopmental disorder | Genetics(clinical) | transcriptome | genotype-phenotype correlation | Bafopathy | speech delay | developmental delay | Genetics | dysmorphisms | intellectual disability | Journal Article
Journal Article
by Machol, Keren and Rousseau, Justine and Ehresmann, Sophie and Garcia, Thomas and Nguyen, Thi Tuyet Mai and Spillmann, Rebecca C and Sullivan, Jennifer A and Shashi, Vandana and Jiang, Yong-hui and Stong, Nicholas and Fiala, Elise and Willing, Marcia and Pfundt, Rolph and Kleefstra, Tjitske and Cho, Megan T and McLaughlin, Heather and Rosello Piera, Monica and Orellana, Carmen and Martínez, Francisco and Caro-Llopis, Alfonso and Monfort, Sandra and Roscioli, Tony and Nixon, Cheng Yee and Buckley, Michael F and Turner, Anne and Jones, Angela L and Jones, Wendy D and van Hasselt, Peter M and Hofstede, Floris C and van Gassen, Koen L.I and Brooks, Alice S and van Slegtenhorst, Marjon A and Lachlan, Katherine and Sebastian, Jessica and Madan-Khetarpal, Suneeta and Sonal, Desai and Sakkubai, Naidu and Thevenon, Julien and Faivre, Laurence and Maurel, Alice and Petrovski, Slavé and Krantz, Ian D and Tarpinian, Jennifer M and Rosenfeld, Jill A and Lee, Brendan H and Lee, Hane and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 164 - 178
Journal Article
by Klionsky, Daniel J and Abdelmohsen, Kotb and Abe, Akihisa and Abedin, Md Joynal and Abeliovich, Hagai and Acevedo Arozena, Abraham and Adachi, Hiroaki and Adams, Christopher M and Adams, Peter D and Adeli, Khosrow and Adhihetty, Peter J and Adler, Sharon G and Agam, Galila and Agarwal, Rajesh and Aghi, Manish K and Agnello, Maria and Agostinis, Patrizia and Aguilar, Patricia V and Aguirre-Ghiso, Julio and Airoldi, Edoardo M and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akporiaye, Emmanuel T and Al-Rubeai, Mohamed and Albaiceta, Guillermo M and Albanese, Chris and Albani, Diego and Albert, Matthew L and Aldudo, Jesus and Algül, Hana and Alirezaei, Mehrdad and Alloza, Iraide and Almasan, Alexandru and Almonte-Beceril, Maylin and Alnemri, Emad S and Alonso, Covadonga and Altan-Bonnet, Nihal and Altieri, Dario C and Alvarez, Silvia and Alvarez-Erviti, Lydia and Alves, Sandro and Amadoro, Giuseppina and Amano, Atsuo and Amantini, Consuelo and Ambrosio, Santiago and Amelio, Ivano and Amer, Amal O and Amessou, Mohamed and Amon, Angelika and An, Zhenyi and Anania, Frank A and Andersen, Stig U and Andley, Usha P and Andreadi, Catherine K and Andrieu-Abadie, Nathalie and Anel, Alberto and Ann, David K and Anoopkumar-Dukie, Shailendra and Antonioli, Manuela and Aoki, Hiroshi and Apostolova, Nadezda and Aquila, Saveria and Aquilano, Katia and Araki, Koichi and Arama, Eli and Aranda, Agustin and Araya, Jun and Arcaro, Alexandre and Arias, Esperanza and Arimoto, Hirokazu and Ariosa, Aileen R and Armstrong, Jane L and Arnould, Thierry and Arsov, Ivica and Asanuma, Katsuhiko and Askanas, Valerie and Asselin, Eric and Atarashi, Ryuichiro and Atherton, Sally S and Atkin, Julie D and Attardi, Laura D and Auberger, Patrick and Auburger, Georg and Aurelian, Laure and Autelli, Riccardo and Avagliano, Laura and Avantaggiati, Maria Laura and Avrahami, Limor and Awale, Suresh and Azad, Neelam and Bachetti, Tiziana and Backer, Jonathan M and Bae, Dong-Hun and Bae, Jae-sung and Bae, Ok-Nam and Bae, Soo Han and Baehrecke, Eric H and Baek, Seung-Hoon and Baghdiguian, Stephen and Bagniewska-Zadworna, Agnieszka and ... and Medicinska fakulteten and Region Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Institutionen för medicin och hälsa and Avdelningen för läkemedelsforskning and Avdelningen för cellbiologi
Autophagy, ISSN 1554-8627, 01/2016, Volume 12, Issue 1, pp. 1 - 222
Journal Article
Journal Article
by Klionsky, Daniel J and Abdelmohsen, Kotb and Abe, Akihisa and Abedin, Md Joynal and Abeliovich, Hagai and Arozena, Abraham Acevedo and Adachi, Hiroaki and Adams, Christopher M and Adams, Peter D and Adeli, Khosrow and Adhihetty, Peter J and Adler, Sharon G and Agam, Galila and Agarwal, Rajesh and Aghi, Manish K and Agnello, Maria and Agostinis, Patrizia and Aguilar, Patricia V and Aguirre-Ghiso, Julio and Airoldi, Edoardo M and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akporiaye, Emmanuel T and Al-Rubeai, Mohamed and Albaiceta, Guillermo M and Albanese, Chris and Albani, Diego and Albert, Matthew L and Aldudo, Jesus and Alguel, Hana and Alirezaei, Mehrdad and Alloza, Iraide and Almasan, Alexanu and Almonte-Beceril, Maylin and Alnemri, Emad S and Alonso, Covadonga and Altan-Bonnet, Nihal and Altieri, Dario C and Alvarez, Silvia and Alvarez-Erviti, Lydia and Alves, Sano and Amadoro, Giuseppina and Amano, Atsuo and Amantini, Consuelo and Ambrosio, Santiago and Amelio, Ivano and Amer, Amal O and Amessou, Mohamed and Amon, Angelika and An, Zhenyi and Anania, Frank A and Andersen, Stig U and Andley, Usha P and Aneadi, Catherine K and Anieu-Abadie, Nathalie and Anel, Alberto and Ann, David K and Anoopkumar-Dukie, Shailena and Antonioli, Manuela and Aoki, Hiroshi and Apostolova, Nadezda and Aquila, Saveria and Aquilano, Katia and Araki, Koichi and Arama, Eli and Aranda, Agustin and Araya, Jun and Arcaro, Alexane and Arias, Esperanza and Arimoto, Hirokazu and Ariosa, Aileen R and Armstrong, Jane L and Arnould, Thierry and Arsov, Ivica and Asanuma, Katsuhiko and Askanas, Valerie and Asselin, Eric and Atarashi, Ryuichiro and Atherton, Sally S and Atkin, Julie D and Attardi, Laura D and Auberger, Patrick and Auburger, Georg and Aurelian, Laure and Autelli, Riccardo and Avagliano, Laura and Avantaggiati, Maria Laura and Avrahami, Limor and Awale, Suresh and Azad, Neelam and Bachetti, Tiziana and Backer, Jonathan M and Bae, Dong-Hun and Bae, Jae-Sung and Bae, Ok-Nam and Bae, Soo Han and Baehrecke, Eric H and Baek, Seung-Hoon and Baghdiguian, Stephen and Bagniewska-Zadworna, Agnieszka and ...
Autophagy, ISSN 1554-8627, 2016, Volume 12, Issue 1, pp. 1 - 222
Journal Article