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Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
Published 2018-03-01“…WES trio analysis, data filtering and in silico prediction identified a novel, damaging (SIFT: 0; Polyphen 1; Grantham score: 101) and disease-causing (MutationTaster) single base mutation in the X chromosome (c.511C > T p.Arg171Trp) MSN gene not identified in the UCSC Genome Browser database. …”
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Human influence on growing-period frosts like in early April 2021 in central France
Published 2023-03-01Get full text
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Integrated assessment model diagnostics: key indicators and model evolution
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Role of zooplankton dynamics for Southern Ocean phytoplankton biomass and global biogeochemical cycles
Published 2016-07-01Get full text
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The Manchester Respiratory Activities of Daily Living Questionnaire: Reliability and Validity of the Chinese Version with Pictorial Enhancement
Published 2021-01-01“…Damian Chi Hong Siu,1,2 Chi Tao So,1,3 Cherry Wai Lee Lau,1,4 Eric Hei Man Hui,1,5 Alexandra Fung,1,6 Tak Ming Chan,1,7 Fion Siu Fun Chan,1,3 Catherine Kam Fung Chan,1,8 William Pang Wai Chen,1,9 Sammy Hoo Ming Cheung,1,10 Katherine Pui Yee Chan,1,11 Peter Poon,12 Michael Cheung,12 Cherry Chan,12 Justin Tse,12 Vanessa Fung,12 Kenneth NK Fong12 1Respiratory Sub-Specialty Group, Occupational Therapy Central Organization Committee, Hospital Authority, Hong Kong SAR; 2Occupational Therapy Department, Prince of Wales Hospital, Hospital Authority, Hong Kong SAR; 3Occupational Therapy Department, Princess Margaret Hospital, Hospital Authority, Hong Kong SAR; 4Occupational Therapy Department, Kowloon Hospital, Hospital Authority, Hong Kong SAR; 5Occupational Therapy Department, Grantham Hospital, Hospital Authority, Hong Kong SAR; 6Occupational Therapy Department, Ruttonjee Hospital, Hospital Authority, Hong Kong SAR; 7Occupational Therapy Department, Haven of Hope Hospital, Hospital Authority, Hong Kong SAR; 8Occupational Therapy Department, Wong Tai Sin Hospital, Hospital Authority, Hong Kong SAR; 9Occupational Therapy Department, Tseung Kwan O Hospital, Hospital Authority, Hong Kong SAR; 10Occupational Therapy Department, Tuen Mun Hospital, Hospital Authority, Hong Kong SAR; 11Occupational Therapy Department, Alice Ho Miu Ling Nethersole Hospital, Hospital Authority, Hong Kong SAR; 12Department of Rehabilitation Sciences, The Hong Kong Polytechnic University, Hong Kong SARCorrespondence: Damian Chi Hong SiuOccupational Therapy Department, Hospital Authority, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR Email damiansiu@gmail.comBackground: The Manchester Respiratory Activities of Daily Living Questionnaire (MRADLQ) is a valid and reliable tool measuring the functional level of patients with COPD in multidimensional aspects. …”
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Detecting the human fingerprint in the summer 2022 western–central European soil drought
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Negative emissions—Part 1: Research landscape and synthesis
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Reading out Khayyam in light of the circumstances of his time Case Study: Garden City, South of Neyshabour (Shadyakh)
Published 2019-08-01“…An Iranian effort to construct a parody of Paradise/ Ferdows or Grantham of Zoroastrianism has given the holy gardens a great value. …”
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Recent trends and drivers of regional sources and sinks of carbon dioxide
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One Hundred Priority Questions for the Development of Sustainable Food Systems in Sub-Saharan Africa
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Evaluating stratospheric ozone and water vapour changes in CMIP6 models from 1850 to 2100
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