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European Journal of Medical Genetics|July 2, 2013
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9pIris Bartels, Irene Pütz, Nadine Reintjes, et al.American Journal of Medical Genetics. Part A|July 9, 2011
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletionGeorg M Stettner, Moneef Shoukier, Christoph Höger, et al.Human Mutation|February 27, 2010
Functional evaluation of paraplegin mutations by a yeast complementation assayFlorian Bonn, Krishna Pantakani, Moneef Shoukier, et al.Metallomics : Integrated Biometal Science|November 18, 2011
Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes diseaseMałgorzata Lenartowicz, Paweł Grzmil, Moneef Shoukier, et al.Swiss Medical Weekly|July 26, 2008
A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotypeLoukas Argyriou, Johannes Wirbelauer, Arvind Dev, et al.Neuropediatrics|February 26, 2013
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive functionMoneef Shoukier, Sigrid Fuchs, Eva Schwaibold, et al.European Journal of Medical Genetics|June 9, 2012
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytesSilke Pauli, Thomas Schmidt, Rudolf Funke, et al.American Journal of Medical Genetics. Part A|August 17, 2013
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and reviewEva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, et al.BMC Urology|January 17, 2013
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastasesCarl Ludwig Behnes, Christina Schlegel, Moneef Shoukier, et al.American Journal of Medical Genetics. Part A|January 10, 2018
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusionsMarcello Scala, Andrea Accogli, Elisa De Grandis, et al.Pageof 3