অনুসন্ধান ফলাফলগুলি - Angad Jolly
- প্রদর্শন 1 - 12 ফলাফল এর 12
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Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly অনুযায়ী Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R. Arenkiel, Priya S. Shah, Nevan J. Krogan, Hatip Aydın, Bilgen Bilge Geçkinli, Tülay Tos, Sedat Işıkay, Beyhan Tüysüz, Ganeshwaran H. Mochida, Ajay X. Thomas, Robin D. Clark, Ghayda Mirzaa, James R. Lupski, Hugo J. Bellen
প্রকাশিত 2019Artigo -
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy অনুযায়ী Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H.T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban‐Akdemir, Shaine A. Morris
প্রকাশিত 2024Artigo -
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease অনুযায়ী Angad Jolly, Yavuz Bayram, Serap Turan, Zehra Aycan, Tülay Tos, Zehra Yavaş Abalı, Bülent Hacıhamdioğlu, Zeynep H. Coban Akdemir, Hadia Hijazi, Serpil Baş, Zeynep Atay, Tülay Güran, Saygın Abalı, Firdevs Baş, Feyza Darendelıler, Roberto Colombo, Tahsin Stefan Barakat, Tuula Rinne, Janson J. White, Gözde Yeşil, Alper Gezdirici, Elif Yılmaz Güleç, Ender Karaca, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Şükran Poyrazoğlu, Abdullah Bereket, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski
প্রকাশিত 2019Artigo -
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression অনুযায়ী Davut Pehli̇van, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper Eisfeldt, Maria Pettersson, Lynn Liu, Marwan Shinawi, Virginia Kimonis, Wojciech Wiszniewski, Kyle McKenzie, Timo Roser, Angela Maria Vianna‐Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James Paul Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M.B. Carvalho
প্রকাশিত 2024Artigo -
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population অনুযায়ী Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gülsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tülay Tos, Gözde Yeşil, Hatip Aydın, Bilgen Bilge Geçkinli, Nursel Elçioğlu, Şükrü Candan, Özlem Sezer, Haktan Bağış Erdem, Davut Gül, Emine Demıral, Muhsin Elmas, Osman Yeşilbaş, Betül Kılıç, Serdal Güngör, Ahmet Cevdet Ceylan, Sevcan Tuğ Bozdoğan, Özge Özalp, Salih Cicek, Hüseyin Aslan, Sinem Yalçıntepe, Vehap Topçu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban‐Akdemir, Ender Karaca, Claudia M.B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehli̇van
প্রকাশিত 2021Artigo -
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FOXI3 pathogenic variants cause one form of craniofacial microsomia অনুযায়ী Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci‐Sparascio, Daniela Melis, Bruno Dallapiccola, M. Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong‐Biao Zhang, Stylianos E. Antonarakis
প্রকাশিত 2023Artigo -
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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability অনুযায়ী Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban‐Akdemir, Janson J. White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, B P Wordsworth, Mike Oldridge, Tracy Lester, Alistair Calder, Katja Dumić, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati J. Mason, Lynda Pollack, Allyn McConkie‐Rosell, Wei Kelly, Marie McDonald, Natalie Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lúcia Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
প্রকাশিত 2021Artigo -
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Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome অনুযায়ী Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Claudia M.B. Carvalho, Juliana F. Mazzeu
প্রকাশিত 2022Artigo -
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Back Cover, Volume 43, Issue 7 অনুযায়ী Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Cláudia Carvalho, Juliana F. Mazzeu
প্রকাশিত 2022Paratexto -
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease অনুযায়ী Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski
প্রকাশিত 2023Artigo -
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Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome অনুযায়ী Na Chen, Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan, Shaoke Chen, André Koch, Congcong Ma, Weijie Tian, Ziqi Jia, Jia Kang, Lina Zhao, Chenglu Qin, Xin Fan, Katharina Rall, Zeynep Coban‐Akdemir, Zefu Chen, Shalini N. Jhangiani, Ze Liang, Yuchen Niu, Xiaoxin Li, Zihui Yan, Yong Wu, Shuangshuang Dong, Chengcheng Song, Guixing Qiu, Yuanqiang Zhang, Pengfei Liu, Jennifer E. Posey, Feng Zhang, Guangnan Luo, Zhihong Wu, Jianzhong Su, Jianguo Zhang, Eugenia Y. Chen, Konstantinos Rouskas, Stavros Glentis, Flora Bacopoulou, Efthymios Deligeoroglou, George P. Chrousos, Stanislas Lyonnet, Michel Polak, Carla Rosenberg, Irene Dingeldein, Ximena Bonilla, Christelle Borel, Richard A. Gibbs, Jennifer E. Dietrich, Antigone S. Dimas, Stylianos E. Antonarakis, Sara Y. Brucker, James R. Lupski, Nan Wu, Lan Zhu, Guixing Qiu, Zhihong Wu, Jianguo Zhang, Nan Wu, Shengru Wang, Jiaqi Liu, Sen Liu, Yuzhi Zuo, Gang Liu, Chenxi Yu, Lian Liu, Jiashen Shao, Sen Zhao, Zihui Yan, Hengqiang Zhao, Yuchen Niu, Xiaoxin Li, Huizi Wang, Congcong Ma, Zefu Chen, Bowen Liu, Xi Cheng, Jiachen Lin, Huakang Du, Yaqi Li, Shuang Song, Weijie Tian, Zhixin Xie, Zhengye Zhao, Lina Zhao, Zhi Gang Zhao, Zhifa Zheng, Sen Zhao
প্রকাশিত 2021Artigo
অনুসন্ধান সাধনীগুলি:
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Biology
Gene
Genetics
Phenotype
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Allele
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Anatomy
Endocrinology
Proband
Allelic heterogeneity
Cell biology
Computational biology
Copy-number variation
Environmental health
Genetic heterogeneity
Genome
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Hormone
Missense mutation
Physics
Population
Anti-Müllerian hormone
Arthroplasty
Astrophysics
Bioinformatics
Brachydactyly
Breakpoint
Candidate gene
Cell