Torthaí cuardaigh - Vimla S. Aggarwal

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  1. 1
    Dual embryonic origin of the mammalian otic vesicle forming the inner ear

    Dual embryonic origin of the mammalian otic vesicle forming the inner ear de réir Laina Freyer, Vimla S. Aggarwal, Bernice E. Morrow

    Foilsithe / Cruthaithe 2011
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  2. 2
    Identification of downstream genetic pathways of Tbx1 in the second heart field

    Identification of downstream genetic pathways of Tbx1 in the second heart field de réir Jun Liao, Vimla S. Aggarwal, Sonja Nowotschin, Alexei Bondarev, Shari R. Lipner, Bernice E. Morrow

    Foilsithe / Cruthaithe 2008
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  3. 3
    Fetal central nervous system anomalies: When should we offer exome sequencing?

    Fetal central nervous system anomalies: When should we offer exome sequencing? de réir Caitlin Baptiste, Rhiannon Mellis, Vimla S. Aggarwal, Jenny Lord, Ruth Y. Eberhardt, Mark D. Kilby, Eamonn R. Maher, Ronald J. Wapner, Jessica L. Giordano, Lyn S. Chitty

    Foilsithe / Cruthaithe 2022
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  4. 4
    Assessing the Role of Rare Genetic Variation in Patients With Heart Failure

    Assessing the Role of Rare Genetic Variation in Patients With Heart Failure de réir Gundula Povysil, Olympe Chazara, Keren Carss, Sri V. V. Deevi, Quanli Wang, Javier Armisen, Dirk S. Paul, Christopher B. Granger, John Kjekshus, Vimla S. Aggarwal, Carolina Haefliger, David B. Goldstein

    Foilsithe / Cruthaithe 2020
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  5. 5
    Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

    Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? de réir Rhiannon Mellis, Eberhardt RY, SJ Hamilton, DJ McMullan, Mark D. Kilby, ER Maher, ME Hurles, JL Giordano, Vimla S. Aggarwal, D. Brabbing Goldstein, Ronald J. Wapner, Lyn S. Chitty

    Foilsithe / Cruthaithe 2021
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  6. 6
    Investigation into the genetics of fetal congenital lymphatic anomalies

    Investigation into the genetics of fetal congenital lymphatic anomalies de réir 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

    Foilsithe / Cruthaithe 2023
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  7. 7
    Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

    Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis de réir Ronald J. Wapner, Alastair J. Martin, Brynn Levy, Blake C. Ballif, Christine M. Eng, Julia Zachary, Melissa Savage, Lawrence D. Platt, Daniel H. Saltzman, William A. Grobman, Susan Klugman, Thomas Scholl, Joe Leigh Simpson, Kimberly McCall, Vimla S. Aggarwal, Brian Bunke, Odelia Nahum, Ankita Patel, Allen N. Lamb, Elizabeth Thom, Arthur L. Beaudet, David H. Ledbetter, Lisa G. Shaffer, Laird Jackson

    Foilsithe / Cruthaithe 2012
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  8. 8
    Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

    Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis de réir Ronald J. Wapner, Christa Lese Martin, Brynn Levy, Blake C. Ballif, Christine M. Eng, Julia Zachary, Melissa Savage, Lawrence D. Platt, Daniel H. Saltzman, William A. Grobman, Susan Klugman, Thomas Scholl, Joe Leigh Simpson, Kimberly McCall, Vimla S. Aggarwal, Brian Bunke, Odelia Nahum, Ankita Patel, Allen N. Lamb, Elizabeth Thom, Arthur L. Beaudet, David H. Ledbetter, Lisa G. Shaffer, Laird Jackson

    Foilsithe / Cruthaithe 2013
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  9. 9
    Causal Genetic Variants in Stillbirth

    Causal Genetic Variants in Stillbirth de réir Kate E. Stanley, Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi, Jun Liao, Avinash V. Dharmadhikari, Anya Revah‐Politi, Michelle Ernst, Natalie Lippa, Halie Holmes, Gundula Povysil, Joseph Hostyk, Corette B. Parker, Robert L. Goldenberg, George R. Saade, Donald J. Dudley, Halit Pınar, Carol J. Hogue, Uma M. Reddy, Robert M. Silver, Vimla S. Aggarwal, Andrew S. Allen, Ronald J. Wapner, David B. Goldstein

    Foilsithe / Cruthaithe 2020
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  10. 10
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders de réir Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Foilsithe / Cruthaithe 2021
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  11. 11
    Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

    Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies de réir Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L. Collins, Xuefang Zhao, Christina Austin‐Tse, Emily Evangelista, Gabrielle Lemire, Vimla S. Aggarwal, Diane Lucente, Laura D. Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon‐Yong An, Shan Dong, Mary E. Norton, Tippi C. MacKenzie, Bernie Devlin, Kelly L. Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O’Donnell‐Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski

    Foilsithe / Cruthaithe 2023
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  12. 12
    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature

    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature de réir Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa

    Foilsithe / Cruthaithe 2018
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  13. 13
    Diagnostic Utility of Exome Sequencing for Kidney Disease

    Diagnostic Utility of Exome Sequencing for Kidney Disease de réir Emily Groopman, Maddalena Marasà, Sophia Cameron‐Christie, Slavé Petrovski, Vimla S. Aggarwal, Hila Milo Rasouly, Yifu Li, Junying Zhang, Jordan G. Nestor, Priya Krithivasan, Wan Yee Lam, Adele Mitrotti, Stacy Piva, Byum Hee Kil, Debanjana Chatterjee, Rachel Reingold, Drew Bradbury, Michael DiVecchia, Holly Snyder, Xueru Mu, Karla Mehl, Olivia Balderes, David Fasel, Chunhua Weng, Jai Radhakrishnan, Pietro A. Canetta, Gerald B. Appel, Andrew S. Bomback, Wooin Ahn, Natalie Uy, Shumyle Alam, David Cohen, Russell J. Crew, Geoffrey K. Dube, Maya K. Rao, Sitharthan Kamalakaran, Brett Copeland, Zhong Ren, Joshua Bridgers, Colin D. Malone, Caroline M. Mebane, Neha Dagaonkar, Bengt Fellström, Carolina Haefliger, Sumit Mohan, Simone Sanna‐Cherchi, Krzysztof Kiryluk, Jan Fleckner, Ruth March, Adam Platt, David B. Goldstein, Ali G. Gharavi

    Foilsithe / Cruthaithe 2018
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  14. 14
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome de réir Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    Foilsithe / Cruthaithe 2021
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