نتایج جستجو برای: larsen

تعداد نتایج: 1791  

Journal: :Tidsskrift for Den norske legeforening 2014

2012
Robert Nash Anooj Majithia Atheer Ujam Arvind Singh

Larsen syndrome is a rare condition that causes multiple large joint dislocations and characteristic flattened facies. We present a case of a patient with Larsen syndrome with a conductive hearing loss due to ossicular malposition/dislocation. We discuss the aetiopathogenesis of hearing loss in Larsen syndrome.

2009
Bisheng Du

Papers involved 1. Bisheng Du, Christian Larsen. 2008. Base stock policies with degraded service to larger orders. Download: http://www.hha.dk/bs/wp/log/L_2008_07.pdf 2. Bisheng Du, Christian Larsen. 2009. Investigating comparative advantages of advance demand information in presence of heterogeneous demand. (General version) 3. Bisheng Du, Christian Larsen. 2009. Comparing reservation policies...

Journal: :Biochemical Society transactions 1993
A G Chapman B S Meldrum

I06 (1990) Eur. J. Pharmacol. 189, 381-391 18. Honor&, T., Lauridsen, J. and Krogsgaard-Larsen, P. (1082) J. Neurochem. 38,173-178 19. Murphy, L). E., Snowhill, E. W. and Williams, M. (1087) Neurochem. Kes. 12,775-782 20. Lund, T. M., Madsen, U., Ebert, H.. Jsrgensen, I;. S. and Krogsgaard-Ia-sen, 1’. (1991) Med. Chem. Kes. 1, 130-141 21. Hansen, J. J., Lauridsen, J., Nielsen, E., and Krogsgaar...

Journal: :Ravnetrykk 2018

Journal: :Journal of medical genetics 2007
Louise S Bicknell Claire Farrington-Rock Yousef Shafeghati Patrick Rump Yasemin Alanay Yves Alembik Navid Al-Madani Helen Firth Mohammad Hassan Karimi-Nejad Chong Ae Kim Kathryn Leask Melissa Maisenbacher Ellen Moran John G Pappas Paolo Prontera Thomy de Ravel Jean-Pierre Fryns Elizabeth Sweeney Alan Fryer Sheila Unger L C Wilson Ralph S Lachman David L Rimoin Daniel H Cohn Deborah Krakow Stephen P Robertson

BACKGROUND Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome togeth...

Journal: :Acta Ophthalmologica 2008

Journal: :Journal of Interpretation Research 2010

Journal: :South African Journal of Child Health 2012

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