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BACKGROUND Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892). (More)
UNLABELLED A supervised nonlinear interpolation significantly improves the reliability of conversions from genetic distances to physical distances as compared with the linear ones. A webaccessible application was created that addresses this question with a graphical presentation that may be wrapped by local installations. MOTIVATION Genetic linkage maps(More)
We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and(More)
Patientenrettungen aus exponierter Lage stellen eine medizinisch wie technische Herausforderung dar. Die Arbeitssicherheit der beteiligten Einsatzkräfte steht hierbei im Fokus. Wir berichten von einem 52-jährigen Dachdecker mit Herzkreislaufstillstand in 14 m Höhe auf einer im Bau befindlichen Dachkonstruktion in einem Hinterhof. Trotz initialer ROSC(More)
The 4th Congress of Infectiologists of Bosnia-Herzegovina with international participation was held in Konjic, on 30. May to 02. June 2012. In addition to the prominent infectious disease experts from almost all university centers in B&H, the teachers at medical schools in Bosnia-Herzegovina, infectious disease specialists who work in health institutions in(More)
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