Zobrazeno 1 - 10
of 2 917
pro vyhledávání: '"Temple Ik"'
Autor:
Yordanova, Nikolinka1 nikolinka.yordanova@mu-varna.bg, Iotova, Violeta1, Mackay, Deborah J. G.2,3, Temple, I. Karen3, Stoyanova, Sara1, Hachmeriyan, Mari4
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. Dec2024, Vol. 16 Issue 4, p475-480. 6p.
Autor:
Lokulo-Sodipe O; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton, SO16 6YD, UK., Inskip HM; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; MRC Epidemiology Unit, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK., Byrne CD; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK., Child J; Child Growth Foundation, c/o Kinnair Associates Limited, Aston House, Newcastle, NE5 1NB, UK (affiliation at the time of this work)., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Mackay DJG; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK., Temple IK; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; The Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK., Davies JH; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton, SO16 6YD, UK.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Oct 15; Vol. 109 (11), pp. e2001-e2008.
Autor:
Mackay, Deborah J.G., Temple, I. Karen
Publikováno v:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; August 2010, Vol. 154 Issue: 3 p335-342, 8p
Autor:
Turner, Claire L.S., Bunyan, David J., Thomas, N. Simon, Mackay, Deborah J.G., Jones, Huw P., Waterham, Hans R., Wanders, Ronald J.A., Temple, I. Karen
Publikováno v:
American Journal of Medical Genetics. Part A; September 2007, Vol. 143 Issue: 18 p2172-2177, 6p
Autor:
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.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 383-388. Date of Electronic Publication: 2023 Oct 18.
Autor:
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.
Publikováno v:
Molecular diagnosis & therapy [Mol Diagn Ther] 2022 May; Vol. 26 (3), pp. 263-272. Date of Electronic Publication: 2022 May 06.
Autor:
Mackay D; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Bliek J; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Tenorio-Castano J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain., Brioude F; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France., Netchine I; INSERM, UMR 938, Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Sorbonne Université, 75012, Paris, France., Papingi D; Institute of Human Genetics, University of Hamburg, Hamburg, Germany., de Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Lever M; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Sillibourne J; Wessex Regional Genetics Laboratory, Salisbury, SP2 8BJ, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Lombardi P; Department of Human Genetics, Laboratory for Genome Diagnostics, Amsterdam UMC, Amsterdam, Netherlands., Gaston V; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France., Tauber M; Centre de Référence du Syndrome de Prader-Willi et Autres Obésités Avec Troubles du Comportement Alimentaire, Unité d'Endocrinologie, Obésité, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants CHU Toulouse, Toulouse, France., Diene G; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France., Bieth E; Laboratoire de Génétique Médicale, Institut Fédératif de Biologie CHU Toulouse, Toulouse, France., Fernandez L; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Riccio A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Naples, Italy., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK., Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tannorella P; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Russo S; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche, Istituto Auxologico Italiano, IRCCS, Milan, Italy., de Nanclares GP; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Temple IK; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK., Ogata T; Department of Pediatrics, Hamamatsu Medical Center and Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER- ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ERN-Ithaca, European Reference Networks, Brussels, Belgium., Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. teggermann@ukaachen.de.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2022 Nov 07; Vol. 14 (1), pp. 143. Date of Electronic Publication: 2022 Nov 07.
Autor:
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.
Publikováno v:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2022 Sep; Vol. 97 (3), pp. 284-292. Date of Electronic Publication: 2022 Mar 21.
Autor:
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.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 613-622. Date of Electronic Publication: 2021 Jun 16.
Autor:
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.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1896-1903. Date of Electronic Publication: 2022 Mar 09.