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American Journal of Medical Genetics. Part A|June 14, 2005
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9Barbara Kloeckener-Gruissem, David R Betts, Andreas Zankl, et al.Journal of Clinical Research in Pediatric Endocrinology|March 19, 2014
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literatureAlka V Ekbote, Sumita Danda, Andreas Zankl, et al.Fetal Diagnosis and Therapy|December 8, 2022
Bruck Syndrome: Beyond the ObviousChristine Thuy-Trang Tran, Maria-Elisabeth Smet, Jonathan Forsey, et al.Seizure|August 22, 2009
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?Johannes R Lemke, Stefanie Beck-Wödl, Andreas Zankl, et al.The Application of Clinical Genetics|July 24, 2014
Optimal management of complications associated with achondroplasiaPenny J Ireland, Verity Pacey, Andreas Zankl, et al.JIMD Reports|September 9, 2020
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVASharon J Chin, Jennifer T Saville, Belinda K McDermott, et al.American Journal of Medical Genetics. Part A|December 14, 2007
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutationAndreas Zankl, George Elakis, Rachel D Susman, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 25, 2006
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndromeAndreas Zankl, Lauren Pachman, Andrew Poznanski, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2Russia Ha-Vinh, Yasemin Alanay, Ruud A Bank, et al.Database : the Journal of Biological Databases and Curation|March 1, 2015
Automatic concept recognition using the human phenotype ontology reference and test suite corporaTudor Groza, Sebastian Köhler, Sandra Doelken, et al.Pageof 8