檢索結果 - Deepa Krishnakumar

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  1. 1
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment 由 Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid

    出版 2020
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  2. 2
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals 由 Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    出版 2022
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  3. 3
    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy 由 Jean K. Mah, Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, M. Tulinius, Yoram Nevo, Monique M. Ryan, Richard Webster, Diana Castro, Nancy L. Kuntz, Craig M. McDonald, Jesse M. Damsker, Benjamin D. Schwartz, L. Mengle-Gaw, Stefan A. Jackowski, Georgia Stimpson, Deborah Ridout, Vandana Ayyar Gupta, Giovanni Baranello, Adnan Y. Manzur, Francesco Muntoni, Heather Gordish‐Dressman, Mika Leinonen, Leanne M. Ward, Eric P. Hoffman, Utkarsh J. Dang, Francesco Muntoni, Adnan Manzur, Giovanni Baranello, S. Robb, Rosaline C. M. Quinlivan, Anna Sárközy, Pinki Munot, Marion Main, Lianne Abbot, Volker Straub, Michela Guglieri, Chiara Bertolli, Anna Mayhew, Robert Muni‐Lofra, M. James, Jassi Sodhi, Deepak Parasuraman, Z. Alhaswani, Heather McMurchie, Rosanna Rabb, Anne‐Marie Childs, Karen Pysden, Lindsey Pallant, Tiffany Small, Stefan Spinty, R Madhu, Alison Shillington, Sarah Gregson, Elizabeth Wraige, Heinz Jungbluth, Vasantha Gowda, Jennie Sheehan, Imelda Hughes, Sinead Warner, Emily Davies, Tracey Willis, R. Kulshrestha, N. Emery, Kate Strachan, Min Ong, Kay White, Kate Skone, Frances Gibbon, Bethan Parsons, Anirban Majumdar, Kayal Vijaykumar, Faye Mason, Claire Frimpong-Ansah, Karen Naismith, Julie Burslem, Iain Horrocks, Marina Di Marco, Sarah M. Brown, Sarah Williamson, Kirstie Spencer, Gabby Chow, Christian de Goede, Andrea Selley, Neil Thomas, Marjorie Illingworth, Michelle Greary, Jenni Palmer, Cathy White, Kate Greenfield, Grainne Nic Fhirleinn, Melanie Douglas, Sandya Tiraputhi, Nahin Hussain, Yvonne Julien, Gautam Ambegaonkar, Deepa Krishnakumar, Jacqui Taylor, Jane Tewnion

    出版 2022
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  4. 4
    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data 由 James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Manzur, Adrian J. Thrasher, Alan Greenhalgh, Alasdair Parker, Alba Sanchis-Juan, Alex Richter, Alice Gardham, Allan Lawrie, Aman Sohal, Amanda Creaser-Myers, Amy Frary, Andreas Greinacher, Andreas C. Themistocleous, Andrew J. Peacock, Andrew Marshall, Andrew Mumford, Andrew J. Rice, Andrew Webster, Angie Brady, Ania Koziell, Ania Manson, Anita Chandra, Anke Hensiek, Anna Huis in’t Veld, Anna Maw, Anne M. Kelly, Anthony T. Moore, Anton Vonk Noordegraaf, Antony Attwood, Archana Herwadkar, Hossein Ardeschir Ghofrani, Arjan C. Houweling, Barbara Girerd, Bruce Furie, Carmen Treacy, Carolyn M. Millar, Carrock Sewell, Catherine Roughley, Catherine Titterton, Catherine Williamson, Charaka Hadinnapola, Charu Deshpande, Cheng‐Hock Toh, Chiara Bacchelli, Christine Patch, Chris Van Geet, Christian Babbs, Christine Bryson, Christopher J. Penkett, Christopher J. Rhodes, C. Ian F. Watt, Claire Bethune, Claire Booth, Claire Lentaigne, Coleen McJannet, Colin Church, Courtney E. French, Crina Samarghitean, Csaba Halmagyi, Daniel P. Gale, Daniel Greene, Daniel P. Hart, David Allsup, David Bennett, David Edgar, David G. Kiely, David Gosal, David J. Perry, David Keeling, David Montani, Debbie Shipley, Deborah Whitehorn, Debra Fletcher, Deepa Krishnakumar, Detelina Grozeva, Dinakantha Kumararatne, Dorothy Thompson, Dragana Josifova, Eamonn R. Maher, Edwin Wong, Elaine Murphy, Eleanor Dewhurst, Eleni Louka, Elisabeth Rosser, Elizabeth Chalmers, Elizabeth Colby, Elizabeth Drewe, Elizabeth McDermott, Ellen Thomas, Emily Staples, Emma Clement, Emma Matthews, Emma Wakeling, Éric Oksenhendler

    出版 2018
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