L A Hughes
L A Hughes
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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K McKay-Bounford
K McKay-Bounford
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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E A Webb
E A Webb
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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P Dasani
P Dasani
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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S Clokie
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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H Chandran
H Chandran
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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L McCarthy
L McCarthy
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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Z Mohamed
Z Mohamed
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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J M W Kirk
J M W Kirk
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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N P Krone
N P Krone
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
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S Allen
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West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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T R P Cole
T R P Cole
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
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subsequently retested using TSO. NGS was performed on probands only and analysis for copy number variation in these genes was not performed. Bioinformatic analysis Bioinformatic analysis was performed using an in-house pipeline where sequence reads were
Robert I Menzies
Robert I Menzies
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Xin Zhao
Xin Zhao
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Linda J Mullins
Linda J Mullins
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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John J Mullins
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Carolynn Cairns
Carolynn Cairns
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Nicola Wrobel
Nicola Wrobel
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Donald R Dunbar
Donald R Dunbar
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Matthew A Bailey
Matthew A Bailey
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Christopher J Kenyon
The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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transcripts were analysed with DAVID Bioinformatic Resources ( 23 ). Cluster analysis of genes involved in signalling, sterol and lipid metabolism and cell turnover was carried out with Miru software ( 24 ). Genes of interest that are discussed are listed in
A Daniel Bird
A Daniel Bird
Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Victoria, Australia
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Spencer Greatorex
Spencer Greatorex
Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Victoria, Australia
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David Reser
Department of Physiology, Monash University, Melbourne, Victoria, Australia
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Gareth G Lavery
Institute of Metabolism and Systems Research, 2nd Floor IBR Tower, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
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Timothy J Cole
Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Victoria, Australia
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immunohistochemistry. Human HEK293 cells were maintained in culture in DMEM/high glucose medium with 2 mM glutamine, 10% FCS. Bioinformatics and protein structure modelling Sequence alignment of human HSD11B1L and 11βHSD1 were performed using the Clustral Omega
Liselot Koelman
Liselot Koelman
Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke (DIfE), Nuthetal, Germany
Institute of Nutritional Science, University of Potsdam, Potsdam, Germany
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Institute of Nutritional Science, University of Potsdam, Potsdam, Germany
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Robin Reichmann
Robin Reichmann
Institute of Nutritional Science, University of Potsdam, Potsdam, Germany
Department of Epidemiological Methods and Etiological Research, Leibniz Institute for Prevention Research and Epidemiology – BIPS, Bremen, Germany
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Claudia Börnhorst
Claudia Börnhorst
Department of Biometry and Data Management, Leibniz Institute for Prevention Research and Epidemiology – BIPS, Bremen, Germany
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Matthias B Schulze
Matthias B Schulze
Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke (DIfE), Nuthetal, Germany
Institute of Nutritional Science, University of Potsdam, Potsdam, Germany
German Center for Diabetes Research (DZD), Neuherberg, Germany
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German Center for Diabetes Research (DZD), Neuherberg, Germany
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Cornelia Weikert
Cornelia Weikert
Department of Food Safety, German Federal Institute for Risk Assessment, Berlin, Germany
Institute for Social Medicine, Epidemiology and Health Economics, Charité University Medical Center, Berlin, Germany
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Ronald Biemann
Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany
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Berend Isermann
Berend Isermann
Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany
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Andreas Fritsche
Andreas Fritsche
Division of Endocrinology, Diabetology, Nephrology, Vascular Disease and Clinical Chemistry, Department of Internal Medicine, University of Tübingen, Tübingen, Germany
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Krasimira Aleksandrova
Krasimira Aleksandrova
Department of Epidemiological Methods and Etiological Research, Leibniz Institute for Prevention Research and Epidemiology – BIPS, Bremen, Germany
Faculty of Human and Health Sciences, University of Bremen, Bremen, Germany
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Marra Jai Aghajani
Marra Jai Aghajani
Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
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School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
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Tao Yang
Tao Yang
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Saint Vincent’s Clinical School, UNSW Sydney, Sydney, Australia
SydPath, Saint Vincent’s Hospital, Sydney, Australia
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Saint Vincent’s Clinical School, UNSW Sydney, Sydney, Australia
SydPath, Saint Vincent’s Hospital, Sydney, Australia
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Ulf Schmitz
Ulf Schmitz
Computational BioMedicine Laboratory Centenary Institute, The University of Sydney, Camperdown, New South Wales, Australia
Gene & Stem Cell Therapy Program Centenary Institute, The University of Sydney, Camperdown, New South Wales, Australia
Faculty of Medicine & Health, The University of Sydney, Camperdown, New South Wales, Australia
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Gene & Stem Cell Therapy Program Centenary Institute, The University of Sydney, Camperdown, New South Wales, Australia
Faculty of Medicine & Health, The University of Sydney, Camperdown, New South Wales, Australia
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Alexander James
Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
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Charles Eugenio McCafferty
Charles Eugenio McCafferty
Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
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School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
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Paul de Souza
Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
School of Medicine, University of Wollongong, New South Wales, Australia
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School of Medicine, University of Wollongong, New South Wales, Australia
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Navin Niles
Navin Niles
Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Department of Head & Neck Surgery, Liverpool Hospital, Liverpool, New South Wales, Australia
Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia
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School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Department of Head & Neck Surgery, Liverpool Hospital, Liverpool, New South Wales, Australia
Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia
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Tara L Roberts
Tara L Roberts
Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
South West Sydney Clinical School, UNSW Sydney, Sydney, Australia
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South West Sydney Clinical School, UNSW Sydney, Sydney, Australia
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Lianghui You
Lianghui You
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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Yan Wang
Yan Wang
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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Yao Gao
Yao Gao
Department of Endocrinology, Children’s Hospital of Nanjing Medical University, Nanjing, China
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Xingyun Wang
Xingyun Wang
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
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Xianwei Cui
Xianwei Cui
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
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Yanyan Zhang
Yanyan Zhang
Beijing Chaoyang Distirct Maternal and Child Health Care Hospital, Beijing, China
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Lingxia Pang
Lingxia Pang
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
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Chenbo Ji
Chenbo Ji
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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Xirong Guo
Xirong Guo
Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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Xia Chi
Xia Chi
Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China
Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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Institute of Pediatrics, Nanjing Medical University, Nanjing, China
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) for 5 min, cells were mounted with microscope slides and visualized under the fluorescence microscope Imager A2 (Carl Zeiss). Bioinformatics predictions and assay of luciferase activity TargetScan ( http://www.targetscan.org ) was used to
Kinnaree Sorapipatcharoen
Kinnaree Sorapipatcharoen
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Thipwimol Tim-Aroon
Thipwimol Tim-Aroon
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Pat Mahachoklertwattana
Pat Mahachoklertwattana
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Wasun Chantratita
Wasun Chantratita
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Nareenart Iemwimangsa
Nareenart Iemwimangsa
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Insee Sensorn
Insee Sensorn
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Bhakbhoom Panthan
Bhakbhoom Panthan
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Poramate Jiaranai
Poramate Jiaranai
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Saisuda Noojarern
Saisuda Noojarern
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Patcharin Khlairit
Patcharin Khlairit
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Sarunyu Pongratanakul
Sarunyu Pongratanakul
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Chittiwat Suprasongsin
Chittiwat Suprasongsin
Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Manassawee Korwutthikulrangsri
Manassawee Korwutthikulrangsri
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Chutintorn Sriphrapradang
Chutintorn Sriphrapradang
Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Preamrudee Poomthavorn
Preamrudee Poomthavorn
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Anna-Pauliina Iivonen
Anna-Pauliina Iivonen
Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
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Johanna Känsäkoski
Johanna Känsäkoski
Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
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Atte Karppinen
Atte Karppinen
Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland
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Leena Kivipelto
Leena Kivipelto
Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland
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Camilla Schalin-Jäntti
Camilla Schalin-Jäntti
Department of Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Auli Karhu
Auli Karhu
Department of Medical and Clinical Genetics, RPU, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
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Taneli Raivio
Taneli Raivio
Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
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Xiuhua Liao
Xiuhua Liao
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou, China
Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China
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Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou, China
Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China
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Suqin Zhu
Suqin Zhu
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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Shumin Qiu
Shumin Qiu
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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Hua Cao
Hua Cao
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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Wenwen Jiang
Wenwen Jiang
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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Huiling Xu
Huiling Xu
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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Yan Sun
Yan Sun
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
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Beihong Zheng
Beihong Zheng
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou, China
Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China
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Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou, China
Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China
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. Future studies can use more advanced techniques in bioinformatics and molecular biology, such as RNA sequencing, proteomics, and metabolomics, to further investigate this question. In addition, while this study provides new insights into the treatment of
Niels B Dalsgaard
Niels B Dalsgaard
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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Lærke S Gasbjerg
Lærke S Gasbjerg
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Laura S Hansen
Laura S Hansen
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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Dennis S Nielsen
Dennis S Nielsen
Department of Food Science, Faculty of Science, University of Copenhagen, Copenhagen, Denmark
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Torben S Rasmussen
Torben S Rasmussen
Department of Food Science, Faculty of Science, University of Copenhagen, Copenhagen, Denmark
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Filip K Knop
Filip K Knop
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Steno Diabetes Center Copenhagen, Gentofte, Denmark
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Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Steno Diabetes Center Copenhagen, Gentofte, Denmark
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_assign_taxonomy_uclust.py (QIIME v1.9.1) ( 17 ). Calculations and bioinformatic analysis of bacterial sequences Power calculations for the primary endpoint have been provided in a previously published paper ( 7 ). Initially, the dataset was purged for 16S rRNA gene
