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The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.

Autor: Cottrell, E., Ladha, T., Borysewicz-Sańczyk, H., Sawicka, B., Savage, M. O., Bossowski, A. T., Storr, H. L.

Publikováno v: Journal of Endocrinological Investigation; Jun2021, Vol. 44 Issue 6, p1331-1334, 4p

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Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.

Autor: Korbonits M; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. m.korbonits@qmul.ac.uk., Blair JC; Alder Hey Children's Hospital, Liverpool, UK., Boguslawska A; Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland., Ayuk J; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Davies JH; University Hospital Southampton NHS Foundation Trust, Southampton, UK., Druce MR; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Evanson J; Neuroradiology, Barts Health NHS Trust, London, UK., Flanagan D; Plymouth Hospitals NHS Trust, Plymouth, UK., Glynn N; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Higham CE; The Christie NHS Foundation Trust, Manchester, UK., Jacques TS; Great Ormond Street Institute of Child Health, University College London, London, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sinha S; Sheffield Children's and Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK., Simmons I; The Leeds Teaching Hospitals NHS Trust, Leeds, UK., Thorp N; The Christie NHS Foundation Trust, Manchester, UK., Swords FM; Norwich and Norfolk NHS Foundation Trust, Norwich, UK., Storr HL; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Spoudeas HA; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; University College London Hospitals NHS Foundation Trust, London, UK.

Publikováno v: Nature reviews. Endocrinology [Nat Rev Endocrinol] 2024 May; Vol. 20 (5), pp. 290-309. Date of Electronic Publication: 2024 Feb 09.

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