檢索結果 - Anna Alkelai
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Investigation into the genetics of fetal congenital lymphatic anomalies 由 Daniella Rogerson, Anna Alkelai, Jessica L. Giordano, Madhulatha Pantrangi, Meng‐Chang Hsiao, Chia‐Ling Nhan‐Chang, Joshua E. Motelow, Vimla S. Aggarwal, David B. Goldstein, Ronald J. Wapner, Carrie J. Shawber
出版 2023Artigo -
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Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene 由 Dan Vodo, Ofer Sarig, Shamir Geller, Edna Ben‐Asher, Tsviya Olender, Ron Bochner, Ilan Goldberg, Judith Nosgorodsky, Anna Alkelai, Pavel Tatarskyy, A. Peled, Sharon Baum, Aviv Barzilai, Saleh Ibrahim, Detlef Zillikens, Doron Lancet, Eli Sprecher
出版 2016Artigo -
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VarElect: the phenotype-based variation prioritizer of the GeneCards Suite 由 Gil Stelzer, Inbar Plaschkes, Danit Oz-Levi, Anna Alkelai, Tsviya Olender, Shahar Zimmerman, Michal Twik, Frida Belinky, Simon Fishilevich, Ron Nudel, Yaron Guan‐Golan, David Warshawsky, Dvir Dahary, Asher Kohn, Yaron Mazor, Sergey Kaplan, Tsippi Iny Stein, Hagit Baris, Noa Rappaport, Marilyn Safran, Doron Lancet
出版 2016Artigo -
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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis 由 Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik‐Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben‐Asher, Dongliang Ge, Kevin V. Shianna, Zvulun Elazar, David B. Goldstein, Elon Pras, Doron Lancet
出版 2012Artigo -
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Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene 由 X-j Luo, Mei LI, Liang Huang, Stacy Steinberg, Manuel Mattheisen, Guoqing Liang, Gary Donohoe, Yongyong Shi, Chuansheng Chen, Weihua Yue, Anna Alkelai, Bernard Lerer, Zhiqiang Li, Qizhong Yi, Marcella Rietschel, Sven Cichon, David Collier, Sarah Tosato, Jaana Suvisaari, Dan Rujescu, В. Е. Голимбет, Teimuraz Silagadze, Naser Durmishi, Miloš Milovančević, Hreinn Stefánsson, Thomas G. Schulze, Markus M. Nöthen, Chao Chen, Rachel Lyne, Derek W. Morris, Michael Gill, Aiden Corvin, D Zhang, Qian Dong, Robert K. Moyzis, Kāri Stefánsson, Engilbert Sigurðsson, Fang Hu, Bing Su, Lin Gan
出版 2013Artigo -
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The contribution of de novo coding mutations to meningomyelocele 由 Yoo-Jin Ha, Isaac Tang, Ashna Nisal, Ishani Jhamb, Cassidy Wallace, Sarah Schroeder, Chanjae Lee, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Francisco A. Blanco, Seyoung Yu, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Rony Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Ji Eun Lee, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Sangwoo Kim, Joseph G. Gleeson
出版 2024Pré-impressão -
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The contribution of de novo coding mutations to meningomyelocele 由 Yoo-Jin Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Krisha Bagga, Niyati Banka, Linda R. Friedman, Francisco A. Blanco, Seyoung Yu, Sue Goo Rhee, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal S. Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Awais Ahmed, Maliha Khara, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Ahmed I. Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Libin Xu, Ji Eun Lee, Dong Hyuk Shin, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Allison E. Ashley‐Koch, Hal S. Meltzer, Joan T. Le, Kit Sing Au, Philip J. Lupo, Camila Araújo, Tony Magana, Caroline M. Kolvenbach, Shirlee Shril, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H. Westley Phillips, Brian W. Hanak, Bülent Kara, Ayfer Sakarya Güneş, David Gonda, Salman Kirmani, Tinatin Tkemaladze, Sangwoo Kim, Joseph G. Gleeson
出版 2025Artigo -
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations 由 Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar‐Yosef, Frédéric Bilan, Kathrine Bjørgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean‐Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma R. Ortiz‐González, Marta Pacio‐Míguez, María Palomares‐Bralo, Loren D.M. Peña, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet‐Perez, Avni Santani, Fernando Santos‐Simarro, Ben Pode‐Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti‐Furga, Isabelle Thiffault, Richard H. van Jaarsveld, Marie Vincent, Hong‐Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith
出版 2021Artigo
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