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American Journal of Medical Genetics. Part A|November 26, 2010
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regionsKatharina M Roetzer, Thomas Schwarzbraun, Anna C Obenauf, et al.Orthopaedic Surgery|February 20, 2013
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromesAli Al Kaissi, Rudolf Ganger, Katharina M Roetzer, et al.Clinical Dysmorphology|February 25, 2011
Extra phenotypic features in a girl with Miller syndromeAli Al Kaissi, Katharina M Roetzer, Peter Ulz, et al.Nephron. Physiology|April 5, 2007
Novel PHEX mutation associated with hypophosphatemic ricketsKatharina M Roetzer, Franz Varga, Elisabeth Zwettler, et al.Journal of Medical Case Reports|June 8, 2007
Vertebral hyperostosis, ankylosed vertebral fracture and atlantoaxial rotatory subluxation in an elderly patient with a history of infantile idiopathic scoliosis; a case reportAli Al Kaissi, Elisabeth Zwettler, Katharina M Roetzer, et al.Bone|July 6, 2010
Altered bone matrix mineralization in a patient with Rett syndromeJochen G Hofstaetter, Katharina M Roetzer, Petra Krepler, et al.Clinical Dysmorphology|August 5, 2011
Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic associationAli Al Kaissi, Katharina M Roetzer, Ellen Heitzer, et al.Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.European Journal of Public Health|June 21, 2024
Genetic counselling legislation and practice in cancer in EU Member StatesJ Matt McCrary, Els Van Valckenborgh, Hélène A Poirel, et al.European Journal of Human Genetics : EJHG|February 13, 2026
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi studyJ Matt McCrary, Els Van Valckenborgh, Denis Horgan, et al.Pageof 2