Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Vimla Aggarwal"'
Autor:
Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, Saadet Mercimek-Andrews
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100879- (2024)
Externí odkaz:
https://doaj.org/article/4266eb2ef99245aba8c76ec7da1f00ca
Autor:
Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100885- (2024)
Externí odkaz:
https://doaj.org/article/bea17b054abe4a83a7e7e16cc0023536
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101547- (2024)
Externí odkaz:
https://doaj.org/article/cf45864f736842fa9f66d50c9168bd6c
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101606- (2024)
Externí odkaz:
https://doaj.org/article/27fa9183065e48f4b5eb80e87044a84f
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-4 (2021)
Abstract Background Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to
Externí odkaz:
https://doaj.org/article/373a2e3506914968af5df3d35a2b1f86
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
Autor:
Mythily Ganapathi, Peter Campbell, Kenneth Ofori, Vimla Aggarwal, Richard O. Francis, Alexander Kratz
Publikováno v:
British Journal of Clinical Pharmacology. 88:4163-4170
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy in humans, can cause acute haemolysis resulting from exposure to certain medications, chemicals, infections and fava beans. Rasburicase, used to manage elevated uric aci
Autor:
Daniella Rogerson, Anna Alkelai, Jessica Giordano, Madhulatha Pantrangi, Meng‐Chang Hsiao, Chia‐Ling Nhan‐Chang, Joshua E. Motelow, Vimla Aggarwal, David Goldstein, Ron Wapner, Carrie J. Shawber
Publikováno v:
Prenatal Diagnosis.
Autor:
Vimla Aggarwal, T.M. Barber, Christian M. Becker, Karanveer Bhangu, Mats Brännström, Carolyn J. Brown, Richard O. Burney, Antonio Capalbo, Wai-Yee Chan, Andy Chun Hang Chen, Chien-Wen Chen, Ming-Jer Chen, Zi-Jiang Chen, Ya-Ching Chou, Kwong Wai Choy, Hugh J. Clarke, Marcos Cordoba, Pernilla Dahm-Kähler, Mo-Yu Dai, Jessica Garcia de Paredes, Guo-Lian Ding, Zirui Dong, Jin Du, C. Eguizabal, Heather E. Fice, S. Franks, Qing-Qin Gao, Jessica Giordano, Linda C. Giudice, Jordan Gosnell, Ting Guo, Meade Haller, Tristan Hardy, Qilong He, L. Herrera, Ali Honaramooz, Cheng Huang, He-Feng Huang, Ghada Hussein, Sylvie Jaillard, Hai-Ping Jiang, Zi-Ru Jiang, Laura Kasak, Kazuhiro Kawamura, Ali Khatibi, Chaini Konwar, Maris Laan, Guan-Lin Lai, Jonathan LaMarre, Dolores J. Lamb, Yin Lau Lee, Yi-Xuan Lee, Brynn Levy, Xin-Yuan Li, Yao Li, Yu-Fei Li, Jinyue Liao, Ming Liu, Xiaodong Liu, Xin-Mei Liu, Y.M. Dennis Lo, Xinyi Ma, Yun-Yi Ma, M. Martin-Inaraja, Stacey A. Missmer, Kai Kei Miu, Grant Montgomery, N. Montserrat, Cynthia C. Morton, Maria Jose Navarro-Cobos, Robert J. Norman, Marisol O’Neill, Fanghong Ou, Yanli Pang, Maria S. Peñaherrera, Maurizio Poli, Jose M. Polo, Jie Qiao, Yingying Qin, Endah Rahmawati, Nilufer Rahmioglu, Bernard Robaire, Wendy P. Robinson, Alice P. Rogers, Peter A.W. Rogers, I. Romayor, Kristiina Rull, Victor A. Ruthig, Matthew A. Shanahan, Xuan Shao, Andrew H. Sinclair, Leanne Stalker, Kate Stanley, Melissa Stosic, Michael Strug, Hoi-Ching Suen, Jia Ping Tan, Jose M. Teixeira, Nannan Thirumavalavan, Jason C.H. Tsang, Allison Tscherner, Elena J. Tucker, Chii-Ruey Tzeng, Ignatia B. Van den Veyver, Margot van Riel, Joris R. Vermeesch, Liesbeth Vossaert, Wei Wang, Yan-Ling Wang, Zhangting Wang, Ronald Wapner, Nicholas Werry, Jeffrey T. White, Samantha L. Wilson, Jun Wu, Peng Xu, Liying Yan, Zhiqiang Yan, William Shu Biu Yeung, Stephanie C.Y. Yu, Peng Yuan, Victor Yuan, Fan Zhai, Shidou Zhao, Yue Zhao, Boryana Zhelyazkova, Qi Zhou, Krina Zondervan
Publikováno v:
Human Reproductive and Prenatal Genetics ISBN: 9780323913805
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e021dcf019339c562794328d6b30c9fc
https://doi.org/10.1016/b978-0-323-91380-5.09990-1
https://doi.org/10.1016/b978-0-323-91380-5.09990-1