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European Journal of Medical Genetics|July 15, 2026
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literatureGiulia Lauretti, Roberta Pietrobono, Benedetta Niccolini, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 11, 2003
Immunoscintigraphic detection of the ED-B domain of fibronectin, a marker of angiogenesis, in patients with cancerMonica Santimaria, Giovanni Moscatelli, Giuseppe L Viale, et al.European Journal of Human Genetics : EJHG|March 21, 2013
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11pFiorella Gurrieri, Marcella Zollino, Antonio Oliva, et al.BMC Medical Genetics|May 8, 2007
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsCarmela Laperuta, Letizia Spizzichino, Pio D'Adamo, et al.Journal of Medical Genetics|September 15, 2010
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial designFrancesco Danilo Tiziano, Rosa Lomastro, Anna Maria Pinto, et al.Journal of Biomedicine & Biotechnology|October 26, 2012
Lim mineralization protein 3 induces the osteogenic differentiation of human amniotic fluid stromal cells through Kruppel-like factor-4 downregulation and further bone-specific gene expressionMarta Barba, Filomena Pirozzi, Nathalie Saulnier, et al.Fetal and Pediatric Pathology|December 13, 2006
Mortality and pathological findings in C (Opitz trigonocephaly) syndromeJohn M Opitz, Angelica R Putnam, Jessica M Comstock, et al.American Journal of Medical Genetics. Part A|October 30, 2016
Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysisErik D Christensen, Justin Berger, Mouied M Alashari, et al.European Journal of Human Genetics : EJHG|April 8, 2004
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangementsIlaria Longo, Luisa Russo, Ilaria Meloni, et al.Investigative Ophthalmology & Visual Science|January 24, 2017
HTRA1 and TGF-β1 Concentrations in the Aqueous Humor of Patients With Neovascular Age-Related Macular DegenerationGian Marco Tosi, Elena Caldi, Giovanni Neri, et al.Pageof 33