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Blood|May 22, 2012
On the role of FAN1 in Fanconi anemiaJuan P Trujillo, Leonardo B Mina, Roser Pujol, et al.FEBS Letters|October 1, 2025
RAD50 missense variants differentially affect the DNA damage response and mitotic progressionHanna Redeker, Swantje Kebel, Lea Völkening, et al.Science Advances|December 15, 2021
MRE11-dependent instability in mitochondrial DNA fork protection activates a cGAS immune signaling pathwayJessica W Luzwick, Eszter Dombi, Rebecca A Boisvert, et al.Klinische Padiatrie|November 14, 2017
Mutational Spectrum of Fanconi Anemia Associated Myeloid NeoplasmsMwe Mwe Chao, Kathrin Thomay, Gudrun Goehring, et al.European Journal of Human Genetics : EJHG|May 16, 2018
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblingsSolveig Schulz, Martin A Mensah, Heike de Vries, et al.Cell Cycle (Georgetown, Tex.)|May 6, 2015
Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytesNadine Kraemer, Ethiraj Ravindran, Sami Zaqout, et al.Frontiers in Pediatrics|June 25, 2015
Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?Anna Karastaneva, Sofia Lanz, Angela Wawer, et al.Human Molecular Genetics|March 28, 2012
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer familiesAna Osorio, Daniela Endt, Fernando Fernández, et al.Orphanet Journal of Rare Diseases|November 16, 2013
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutationHeba Gamal Farag, Sebastian Froehler, Konrad Oexle, et al.The Journal of Clinical Investigation|April 15, 2025
Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complexJulia Kuehl, Yutong Xue, Fenghua Yuan, et al.Pageof 12