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Bone 2020 Jan 23;130:115098. Epub 2019 Oct 23.
Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom. Electronic address:
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http://dx.doi.org/10.1016/j.bone.2019.115098 | DOI Listing |
Genet Med 2019 Sep;21(9):2160-2161
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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http://dx.doi.org/10.1038/s41436-018-0368-y | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317 | PMC |
Am J Med Genet A 2019 Jul 15;179(7):1346-1350. Epub 2019 May 15.
Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
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http://dx.doi.org/10.1002/ajmg.a.61169 | DOI Listing |
Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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http://www.nature.com/articles/s41436-018-0330-z | Publisher Site |
http://dx.doi.org/10.1038/s41436-018-0330-z | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273 | PMC |
J Clin Endocrinol Metab 2019 Apr;104(4):1079-1089
Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
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http://dx.doi.org/10.1210/jc.2018-01250 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380466 | PMC |
Am J Med Genet A 2019 04 13;179(4):615-627. Epub 2019 Feb 13.
Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.
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http://dx.doi.org/10.1002/ajmg.a.61073 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491982 | PMC |
Am J Med Genet A 2018 04 13;176(4):925-935. Epub 2018 Feb 13.
Department of Pediatrics and Medicine, Columbia University, New York, New York.
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http://dx.doi.org/10.1002/ajmg.a.38630 | DOI Listing |
Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
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http://dx.doi.org/10.1002/ajmg.a.38267 | DOI Listing |
J Med Genet 2017 04 24;54(4):260-268. Epub 2016 Nov 24.
Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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http://dx.doi.org/10.1136/jmedgenet-2016-104215 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366069 | PMC |
Am J Hum Genet 2016 Dec;99(6):1325-1337
Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK. Electronic address:
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http://dx.doi.org/10.1016/j.ajhg.2016.10.011 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142116 | PMC |
Am J Hum Genet 2016 08 15;99(2):392-406. Epub 2016 Jul 15.
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand. Electronic address:
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http://dx.doi.org/10.1016/j.ajhg.2016.05.024 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974064 | PMC |
Am J Hum Genet 2016 07 30;99(1):125-38. Epub 2016 Jun 30.
MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, Otago 9016, New Zealand. Electronic address:
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http://dx.doi.org/10.1016/j.ajhg.2016.05.019 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005452 | PMC |
Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.
Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
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http://dx.doi.org/10.1038/ejhg.2015.31 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681 | PMC |
Am J Med Genet A 2015 Dec 3;167A(12):3153-60. Epub 2015 Sep 3.
Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, United Kingdom.
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http://dx.doi.org/10.1002/ajmg.a.37336 | DOI Listing |
Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
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http://dx.doi.org/10.1002/ajmg.a.37044 | DOI Listing |
Am J Med Genet A 2015 Mar 21;167A(3):461-75. Epub 2015 Jan 21.
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
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http://dx.doi.org/10.1002/ajmg.a.36922 | DOI Listing |
Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.
Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.
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http://dx.doi.org/10.1093/hmg/ddu002 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191 | PMC |
Nat Genet 2013 Nov 22;45(11):1300-8. Epub 2013 Sep 22.
Helmholtz Center Munich, German Research Center for Environmental Health, Institute for Stem Cell Research, Neuherberg, Germany.
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http://dx.doi.org/10.1038/ng.2765 | DOI Listing |
Am J Hum Genet 2013 Nov 31;93(5):932-44. Epub 2013 Oct 31.
Molecular Medicine Unit and Birth Defect Research Centre, Institute of Child Health, University College London (UCL), London WC1N 1EH, UK. Electronic address:
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http://dx.doi.org/10.1016/j.ajhg.2013.10.003 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824113 | PMC |
Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.
Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.
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http://dx.doi.org/10.1002/ajmg.a.36066 | DOI Listing |
Eur J Med Genet 2013 Aug 19;56(8):404-10. Epub 2013 Jun 19.
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
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http://dx.doi.org/10.1016/j.ejmg.2013.05.009 | DOI Listing |
Nat Genet 2013 Mar 27;45(3):304-7. Epub 2013 Jan 27.
Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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http://dx.doi.org/10.1038/ng.2531 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3647333 | PMC |
Nat Genet 2013 Mar 27;45(3):308-13. Epub 2013 Jan 27.
Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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http://dx.doi.org/10.1038/ng.2539 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683605 | PMC |
Eur J Hum Genet 2012 Oct 4;20(10):1024-31. Epub 2012 Apr 4.
South West Thames Regional Genetics Service, St George’s Hospital NHS Trust, London, UK.
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http://dx.doi.org/10.1038/ejhg.2012.57 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449074 | PMC |
Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
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http://dx.doi.org/10.1038/ng.2324 | DOI Listing |
J Med Genet 2012 Jan;49(1):21-6
Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.
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http://dx.doi.org/10.1136/jmedgenet-2011-100378 | DOI Listing |
Hum Mutat 2011 Jul;32(7):853-9
Department of Human Genetics, RUNMC, Nijmegen, The Netherlands.
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http://doi.wiley.com/10.1002/humu.21523 | Publisher Site |
http://dx.doi.org/10.1002/humu.21523 | DOI Listing |
Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.
Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.
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http://dx.doi.org/10.1002/ajmg.a.33998 | DOI Listing |
Hum Mutat 2011 Mar;32(3):272-6
Université Paris Descartes, INSERM U-781, France.
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http://dx.doi.org/10.1002/humu.21442 | DOI Listing |
Transplantation 2010 Mar;89(5):627-32
Institute of Liver Studies, King's College Hospital, London, United Kingdom.
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http://dx.doi.org/10.1097/TP.0b013e3181ca87b0 | DOI Listing |
Pediatr Diabetes 2009 May 22;10(3):193-7. Epub 2008 Oct 22.
Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.
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http://dx.doi.org/10.1111/j.1399-5448.2008.00470.x | DOI Listing |
Nat Genet 2009 Jan 14;41(1):95-100. Epub 2008 Dec 14.
Departments of Paediatrics, Dunedin School of Medicine, Otago University, Dunedin 9054, New Zealand.
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http://dx.doi.org/10.1038/ng.270 | DOI Listing |
Hum Mutat 2008 Nov;29(11):E205-19
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
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http://dx.doi.org/10.1002/humu.20819 | DOI Listing |
Eur J Med Genet 2007 Sep-Oct;50(5):338-45. Epub 2007 May 27.
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
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http://dx.doi.org/10.1016/j.ejmg.2007.05.002 | DOI Listing |
Clin Dysmorphol 2007 Jul;16(3):197-201
Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK.
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http://dx.doi.org/10.1097/MCD.0b013e32801470d8 | DOI Listing |
Am J Med Genet A 2007 Apr;143A(8):799-807
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
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http://dx.doi.org/10.1002/ajmg.a.31658 | DOI Listing |
Am J Med Genet A 2006 Dec;140(23):2625-30
Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.
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http://doi.wiley.com/10.1002/ajmg.a.31374 | Publisher Site |
http://dx.doi.org/10.1002/ajmg.a.31374 | DOI Listing |
Am J Hum Genet 2006 Jun 28;78(6):999-1010. Epub 2006 Apr 28.
Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom.
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http://linkinghub.elsevier.com/retrieve/pii/S000292970763921 | Publisher Site |
http://dx.doi.org/10.1086/504440 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474108 | PMC |
J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:671-3
Clinical & Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK.
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http://dx.doi.org/10.1515/jpem.2006.19.s2.671 | DOI Listing |
Am J Med Genet A 2005 Aug;137(2):190-8
Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy.
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http://dx.doi.org/10.1002/ajmg.a.30864 | DOI Listing |
J Clin Endocrinol Metab 2003 Dec;88(12):5981-8
Departments of Pediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, United Kingdom.
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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc. | Publisher Site |
http://dx.doi.org/10.1210/jc.2002-021080 | DOI Listing |
Am J Hum Genet 2003 Apr 6;72(4):961-74. Epub 2003 Mar 6.
Clinical and Molecular Genetics Unit, Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, United Kingdom.
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http://dx.doi.org/10.1086/374566 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180358 | PMC |
Semin Musculoskelet Radiol 2002 Dec;6(4):273-83
Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK.
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http://dx.doi.org/10.1055/s-2002-36726 | DOI Listing |