학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK. djgm@soton.ac.uk.; Gazdagh G; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Monk D; Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK.; Brioude F; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France.; Giabicani E; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France.; Krzyzewska IM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Kalish JM; Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Departments of Pediatrics and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.; Maas SM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Beygo J; Institut Für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Kahre T; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Burnytė B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Davies JH; Faculty of Medicine, University of Southampton, Southampton, UK.; Regional Centre for Paediatric Endocrinology, Faculty of Medicine, Southampton Children's Hospital, University of Southampton, Southampton, UK.; Ferrero GB; Department of Clinical and Biological Science, School of Medicine, Centre for Hemoglobinopathies, AOU San Luigi Gonzaga, University of Turin, Turin, Italy.; Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Manero-Azua A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.; Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.; Russo S; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.; Tannorella P; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.; Temple KI; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB),'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.; de Nanclares GP; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.; Maher ER; Aston Medical School, Aston University, Birmingham, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK.; Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; Netchine I; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France.; Eggermann T; Institute for Human Genetics and Genome Medicine. Faculty of Medicine, RWTH University Aachen, Aachen, Germany.; Bliek J; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE
Academic Journal
Lokulo-Sodipe O; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton.; Inskip HM; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; MRC Epidemiology Unit, Faculty of Medicine, University of Southampton, Southampton.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust.; Byrne CD; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust.; Child J; Child Growth Foundation, c/o Kinnair Associates Limited, Aston House, Redburn Road, Newcastle, NE5 1NB, UK.; Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street London WC1N 3JH.; Mackay DJG; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Salisbury.; Temple IK; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; The Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, Southampton.; Davies JH; Department of Human Development and Health, Faculty of Medicine, University of Southampton.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton.
Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
Report
Alhendi ASN; Faculty of Medicine, University of Southampton, UK.; Gazdagh G; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK.; Lim D; Birmingham Women's and Children's Foundation Trust, UK.; McMullan D; Birmingham Women's and Children's Foundation Trust, UK.; Wright M; Newcastle Hospitals NHS Foundation Trust, UK.; Temple IK; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK.; Davies JH; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK.; Mackay DJG; Faculty of Medicine, University of Southampton, UK.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Yordanova N; Dept. of Pediatrics, Medical University - Varna, Bulgaria.; Iotova V; Dept. of Pediatrics, Medical University - Varna, Bulgaria.; Mackay DJG; Wessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.; Temple IK; Faculty of Medicine, University of Southampton, Southampton, UK.; Stoyanova S; Dept. of Pediatrics, Medical University - Varna, Bulgaria.; Hachmeriyan M; Dept. of Medical Genetics, Medical University - Varna, Bulgaria.
Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE
Academic Journal
Lokulo-Sodipe O; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Giabicani E; INSERM, UMR_S 938-Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France.; Canton APM; INSERM, UMR_S 938-Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France.; Division of Endocrinology & Metabolism, Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics/LIM42, Clinical Hospital, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil.; Ferrand N; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany.; Child J; Child Growth Foundation, Sutton Coldfield, UK.; Wakeling EL; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Binder G; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany.; Netchine I; INSERM, UMR_S 938-Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France.; Mackay DJG; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, UK.; Inskip HM; MRC Epidemiology Unit, Faculty of Medicine University of Southampton, Southampton, UK.; Byrne CD; Cancer Sciences, Faculty of Medicine University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Temple IK; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Davies JH; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE
Academic Journal
Alhendi ASN; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Lim D; Department of Clinical Genetics, Birmingham Women's and Children's Hospital, Birmingham, UK.; McKee S; Department of Genetic Medicine, Belfast City Hospital, Belfast, UK.; McEntagart M; Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK.; Tatton-Brown K; Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK.; Temple IK; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Davies JH; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Mackay DJG; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK djgm@soton.ac.uk.; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Report
Grosvenor SE; Human Development and Health, Faculty of Medicine, University of Southampton, Tremona Road, Southampton, UK.; Davies JH; Human Development and Health, Faculty of Medicine, University of Southampton, Tremona Road, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trusts, Southampton, UK.; Lever M; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.; Sillibourne J; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.; Mackay DJG; Human Development and Health, Faculty of Medicine, University of Southampton, Tremona Road, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.; Temple IK; Human Development and Health, Faculty of Medicine, University of Southampton, Tremona Road, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trusts, Southampton, UK.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Mackay DJG; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. djgm@soton.ac.uk.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK. djgm@soton.ac.uk.; Temple IK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE
Academic Journal
Wiedemann B; Schober E; Waldhoer T; Koehle J; Flanagan SE; Mackay DJG; Steichen E; Meraner D; Zimmerhackl L; Hattersley AT; Ellard S; Hofer S
Academic Journal
Temple IK; Gardner RJ; Mackay DJG; Barber JCK; Robinson DO; Shield JPH; Temple, I K; Gardner, R J; Mackay, D J; Barber, J C; Robinson, D O; Shield, J P
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