학술논문
'학술논문'
에서 검색결과 548건 | 목록
1~10
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schädlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Gläser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Bönnemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Hülya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
Nature Communications. 15(1)
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Marwan Nashabat; Nasrinsadat Nabavizadeh; Hilal Pırıl Saraçoğlu; Burak Sarıbaş; Şahin Avcı; Esra Börklü; Emmanuel Beillard; Elanur Yılmaz; Seyide Ecesu Uygur; Cavit Kerem Kayhan; Luca Bosco; Zeynep Bengi Eren; Katharina Steindl; Manuela Friederike Richter; Guney Bademci; Anita Rauch; Zohreh Fattahi; Maria Lucia Valentino; Anne M. Connolly; Angela Bahr; Laura Viola; Anke Katharina Bergmann; Maria Eugenia Rocha; LeShon Peart; Derly Liseth Castro-Rojas; Eva Bültmann; Suliman Khan; Miriam Liliana Giarrana; Raluca Ioana Teleanu; Joanna Michelle Gonzalez; Antonella Pini; Ines Sophie Schädlich; Katharina Vill; Melanie Brugger; Stephan Zuchner; Andreia Pinto; Sandra Donkervoort; Stephanie Ann Bivona; Anca Riza; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
Ramzan M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10Th Avenue, BRB-610 (M860), Miami, FL, 33136, USA.; Bozan N; Department of Otolaryngology, Yuzuncu Yil University School of Medicine, Van, Turkey.; Seyhan S; Department of Medical Genetics, Faculty of Medicine, Uskudar University, Istanbul, Turkey.; Zafeer MF; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10Th Avenue, BRB-610 (M860), Miami, FL, 33136, USA.; Ayral A; Department of Otolaryngology, Yuzuncu Yil University School of Medicine, Van, Turkey.; Duman D; Department of Audiology, Ankara University Faculty of Health Sciences, Ankara, Turkey.; Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Tekin M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10Th Avenue, BRB-610 (M860), Miami, FL, 33136, USA. MTekin@med.miami.edu.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. MTekin@med.miami.edu.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Academic Journal
Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A; Network, Undiagnosed Diseases; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Fieg, Elizabeth L; Fisher, Paul G
Genetics in Medicine. 24(7)
Academic Journal
Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Jamra, Rami Abou; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna CE; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Medicine, Rady Children's Institute for Genomic; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn
Brain. 145(10)
Academic Journal
McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K‐G; Palmer, Christina GS; Hooper, Stephen R; Shashi, Vandana; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Sessions Cole, F; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Findley, Laurie C; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A
Journal of Genetic Counseling. 31(1)
Academic Journal
Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C; Network, Undiagnosed Diseases; Acosta, Maria T; Adams, David R; Agrawal, Pankaj; Alejandro, Mercedes E; Allard, Patrick; Alvey, Justin; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Barbouth, Deborah; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beggs, Alan H; Bejerano, Gill; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bivona, Stephanie; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Botto, Lorenzo; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D’Souza, Precilla; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Godfrey, Rena A; Goldman, Alica M; Goldstein, David B; Gourdine, Jean-Philippe F; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A; Hayes, Nichole
American Journal of Human Genetics. 105(4)
Academic Journal
Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T; Choi, Murim; Kontrogianni‐Konstantopoulos, Aikaterini; Acosta, Maria T; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F; Beggs, Alan H; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao‐Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell'Angelica, Esteban C; Dhar, Shweta U; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Enns, Gregory M; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Friedman, Noah D; Gahl, William A; Godfrey, Rena A; Goldman, Alica M; Goldstein, David B; Gourdine, Jean‐Philippe F; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A; High, Frances; Holm, Ingrid A
Human Mutation. 40(8)
Academic Journal
Forghani I; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Lang SH; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Baylor College of Medicine, Houston, Texas, USA.; Rodier MJ; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Bivona SA; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Morales AA; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Zuchner S; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Bademci G; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Tekin M; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Report
Dohrn MF; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Department of Neurology, Medical Faculty of the RWTH Aachen University, Aachen, Germany.; Bademci G; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Rebelo AP; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Jeanne M; Service de Génétique Médicale, CHRU de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr/), Paris, France.; Borja NA; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Danzi MC; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Bivona SA; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Gueguen P; Service de Génétique Médicale, CHRU de Tours, Tours, France.; Zafeer MF; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Tekin M; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
검색 결과 제한하기
제한된 항목
[검색어] Bademci, G.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어