Showing results (61-70 of 127) with videos related to
Sort By:
Pageof 13
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.Human Mutation|October 8, 2005
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotypeMarc Trimborn, Reyk Richter, Nadine Sternberg, et al.Breast Cancer Research and Treatment|August 2, 2011
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancerRosa Landwehr, Natalia V Bogdanova, Natalia Antonenkova, et al.The Journal of Clinical Investigation|December 12, 2024
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activationKristine Bousset, Stefano Donega, Najim Ameziane, et al.Journal of Medical Genetics|November 16, 2006
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research NetworkJosé Antonio Casado, Elsa Callén, Ariana Jacome, et al.Familial Cancer|November 21, 2020
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndromeSue M Huson, Timo Staab, Marta Pereira, et al.European Journal of Medical Genetics|September 7, 2011
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12Oliver Bartsch, Detlev Schindler, Vera Beyer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.Pageof 13