Exploring the impact of occupational exposure: A study on cardiovascular autonomic functions of male gas station attendants in Sri Lanka.

Autor: Warnakulasuriya, Tania, Medagoda, Kushan, Kottahachchi, Dulani, Luke, Dunya, Wadasinghe, Dilesha, Rathnayake, Prasanna, Ariyawansa, Janaki, Dissanayake, Tharuka, Sandeepani, Pavani, De Silva, Deepthi C., Devanarayana, Niranga Manjuri

Publikováno v: Physiological Reports; Nov2024, Vol. 12 Issue 21, p1-11, 11p

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K zobrazení výsledku je třeba se přihlásit.

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.

Autor: de Silva, Deepthi C., Wright, Morag F., Stevenson, David A. J., Clark, Caroline, Gray, Elizabeth S., Holmes, John D., Dean, John C. S., Haites, Neva E., Dunlop, Malcolm G.

Publikováno v: Cancer (0008543X); Mar1996, Vol. 77 Issue 5, p972-976, 5p

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Autor: Tarnauskaitė Ž; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Bicknell LS; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Murray JE; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Logan CV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Bober MB; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., de Silva DC; Department of Physiology, Faculty of Medicine, University of Kelaniya, Colombo, Sri Lanka., Duker AL; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Sillence D; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, Australia., Wise C; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish, Rite Hospital for Children, Dallas, Texas.; McDermott Center for Human Growth and Development, University of Texas, Southwestern Medical Center, Dallas, Texas.; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, Texas.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Jackson AP; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Murina O; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Reijns MAM; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

Publikováno v: Human mutation [Hum Mutat] 2019 Aug; Vol. 40 (8), pp. 1063-1070. Date of Electronic Publication: 2019 Jun 23.