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| 1 | Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing显示文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene. | Naim Alkhouri Barbara Kaplan Marsha Kay Amy Shealy Carol Crowe Susanne Bauhuber Martin Zenker | 2008 | World Journal of Gastroenterology2008，14，44： | 4 |
| 2 | Treatment strategies for proximal femur fractures in osteoporotic patients显示文摘 | Felix Bonnaire Henry Zenker Christoph Lill Andreas T. Weber Berend Linke | 2005 | Osteoporosis International2005，，2： | 2 |
| 3 | Business services as actors of knowledge transformation: the role of KIBS in regional and national innovation systems显示文摘 | Emmanuel Muller Andrea Zenker | 2001 | Research Policy2001，，9： | 2 |
| 4 | Applications and potential of ultrasonics in food processing 显示文摘 | Knorr D Zenker M Heinz V | 2004 | Tredns Food Science & Technology2004，15，5： | 1 |
| 5 | Efficiency and power density potential of combustion-driven thermophotovoltaic systems using GaSb Photovoltaic Cells显示文摘 | Zenker M | 2001 | IEEE Transactions on Electron Devices2001，48，2： | 1 |
| 6 | The estimation of small amounts of corticisterone in the rat plamas 显示文摘 | Zenker N Bernstain D E | 1958 | J Biol Chem1958，31，： | 1 |
| 7 | Applications and potential of ultrasonics in food processing显示文摘 | Dietrich Knorr Marco Zenker Volker Heinz | 2004 | Trends in Food Science and Technology2004，15，5： | 1 |
| 8 | Business services as actors of knowledge transformation:the role of KIBS in regional and national innovation systems显示文摘 | Muller E Zenker A | | 0，，09： | 1 |
| 9 | Treatment strategies for proximal femur fractures in osteoporotic patients显示文摘 | Bonnaire F Zenker H Lill C | | 0，，2： | 1 |
| 10 | Treatment strategies for proxi- mal femur fractures in osteoporotic patients显示文摘 | Bonnaire F Zenker H Lill C | 2005 | Osteoporos Int2005，16，2： | 1 |
| 11 | Treatment strategies for proximal femur fractures in osteoporotic patients显示文摘 | Bonnaire F Zenker H Lill C | | 0，，02： | 1 |
| 12 | Business services as actors of knowledgetransformation : The role of KIBS in regional and national in-novation systems 显示文摘 | Muller E Zenker A | 2001 | Research Policy2001，30，： | 1 |
| 13 | Lipoprotein(a)as a strong indicator for cerebrovascular disease显示文摘 | koltringer P Bone G | 1986 | Stroke1986，17，： | 1 |
| 14 | Cellular injuries upon exposure of Escherichia coli and Lactobacillus rhamnosus to high-intensity ultrasound显示文摘 | Ananta E Voigt D Zenker M | 2005 | JAppl Microbio12005，99，2： | 1 |
| 15 | Effects of the UV filter benzophenone-2 on reproduction in fish显示文摘 | Weisbrod CJ Kunz P Y Zenker A K | 2007 | Toxicology and Applied Pharmacology2007，225，3： | 1 |
| 16 | Application and potential of ultrasonic in food processing 显示文摘 | Knorr D Zenker M Heinz Volker | 2004 | Tr Food Sci and Technol2004，，15： | 1 |
| 17 | Business services as actors of knowledge trans- formation: the role of KIBS in regional and national innovation sys- tems显示文摘 | Muller E Zenker A | 2001 | Research Policy2001，30，9： | 1 |
| 18 | Assessment of capillary rise from shallow groundwater by the simulation model SIMWASER using either estimated pedotransfer functions or measured hydraulic parameters显示文摘 | Stenitzer E Diestel H Zenker T | 2007 | Water Resources Management2007，21，9： | 1 |
| 19 | Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR显示文摘 | Anja Lehnhardt Albert Lama Kerstin Amann Verena Matejas Martin Zenker Markus Kemper | 2012 | Pediatric Nephrology2012，，5： | 1 |
| 20 | Treatment strategies for proximal femur fractures in osteoporotic patients 显示文摘 | Bonnaire F Zenker H LiU C | 2005 | Osteoporos Int2005，16，2： | 1 |
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