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Can OMIM be used as a decision support system in the diagnotic process of malformation syndromes?


, : Can OMIM be used as a decision support system in the diagnotic process of malformation syndromes?. European Journal of Human Genetics 10(Supplement 1): 134


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Other references

Kolosvary, Gabriel, 1929: Biological studies on certain species of spiders from Szeged. The author shows that the color pattern of Singa sauguinea can be derived from variations of the color pattern of S. hamata. The unusually light form of S. hamata changes the black stripes on its back into dots. Through this change it obtains the...

Rodriguez-Nogales, J.M.; Fernández-Fernández, E.; Gómez, M.; Vila-Crespo, J., 2013: Antioxidant properties of sparkling wines produced with β-glucanases and commercial yeast preparations. The aim of this study was to evaluate the in vitro antioxidant potential of sparkling wines produced with ?-glucanases, autolysated yeasts, yeast cell walls, and purified mannoproteins. Total antioxidant capacity (measured by 2,2-diphenyl-1-picryl...

Kegler, H.; Otto, H., 1970: Investigations on fruit spotting of Clivia apples. Spots occurring on the skin of Clivia apples are described. A virus related to the Mclntosh depression virus was graft transmitted from the infected trees to Malus platycarpa.

Best, M.; Sattar, S.A.; Springthorpe, V.S.; Kennedy, M.E., 1988: Comparative mycobactericidal efficacy of chemical disinfectants in suspension and carrier tests. The efficacy of nine disinfectants on Mycobacterium smegmatis was tested in the presence of sputum, using quantitative suspension and carrier tests. Glutaraldehyde, povidone iodine, and chlorhexidine gluconate produced at least a 6-log10 reduction...

Gamble,K.C., 2008: Plasma fentanyl concentrations achieved after transdermal fentanyl patch application in prehensile-tailed skinks, Corucia zebrata. Reptile medicine is challenged by the need for effective analgesia options. Transdermal fentanyl (TDF) has been used extra-label in veterinary medicine for mammals as peri-operative analgesia. Through this application and human studies, it has bee...

Mathieu-Costello, O.; Ellis, C.G.; Potter, R.F.; MacDonald, I.C.; Groom, A.C., 1991: Muscle capillary-to-fiber perimeter ratio: morphometry. It is known that a substantial amount of capillary tortuosity is found in shortened muscles. However, the increased capillary length and surface area contributed by tortuosity and branching are seldom taken into account when capillarity is estimat...

O'Hayre, M.; Salanga, C.L.; Handel, T.M.; Allen, S.J., 2008: Chemokines and cancer: migration, intracellular signalling and intercellular communication in the microenvironment. Inappropriate chemokine/receptor expression or regulation is linked to many diseases, especially those characterized by an excessive cellular infiltrate, such as rheumatoid arthritis and other inflammatory disorders. There is now overwhelming evid...

Jeter, M.L.; White, R.R.; Sullenger, B.A.; Rusconi, C.P.; Church, F.C., 2002: Regulation of thrombin-serpin inhibition reactions by a thrombin-specific RNA aptamer. The project goal is to better understand how the serine protease thrombin is regulated by the serine protease inhibitors (serpins) antithrombin (ATIII) and heparin cofactor II (HCII) in the absence of presence of glycosaminoglycans (heparin and de...

Ueki, Y.; Watanabe, J.; Hashimoto, S.; Takahashi, S., 2014: Cervical spine osteomyelitis and epidural abscess after chemoradiotherapy for hypopharyngeal carcinoma: a case report. Osteomyelitis of mandible as a delayed adverse event following radiation therapy has been widely reported; however, osteomyelitis of the cervical spine has rarely been reported. In this study, we reported our experience with a case of cervical spi...

Malmstroem, L.; Hou, L.; Atkins, W.M.; Goodlett, D.R., 2009: On the use of hydrogen/deuterium exchange mass spectrometry data to improve de novo protein structure prediction. Rapid Communications in Mass Spectrometry 23(3): 459-461