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The Journal of Clinical Investigation|January 17, 2014
Changes in neural network homeostasis trigger neuropsychiatric symptomsAline Winkelmann, Nicola Maggio, Joanna Eller, et al.American Journal of Hematology|November 25, 2003
MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivationAmos Toren, Galit Rozenfeld-Granot, Karen E Heath, et al.Cell Research|January 13, 2018
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disordersJasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, et al.Nucleic Acids Research|June 22, 2021
Deep and accurate detection of m6A RNA modifications using miCLIP2 and m6Aboost machine learningNadine Körtel, Cornelia Rücklé, You Zhou, et al.Molecular Therapy. Nucleic Acids|February 3, 2025
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorderInna Shomer, Nofar Mor, Shaul Raviv, et al.Human Molecular Genetics|September 10, 2005
Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasiaShelly Ziv, Ori Brenner, Ninette Amariglio, et al.Blood|February 15, 2007
Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportinSara Gardenghi, Maria F Marongiu, Pedro Ramos, et al.Journal of Immunology (Baltimore, Md. : 1950)|November 12, 2017
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1BRaz Somech, Atar Lev, Yu Nee Lee, et al.European Journal of Human Genetics : EJHG|February 18, 2016
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutationsJoshi Stephen, Thierry Vilboux, Yael Haberman, et al.Digestive Diseases and Sciences|February 28, 2018
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric SyndromeIddo Vardi, Ortal Barel, Michal Sperber, et al.Pageof 31