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Nature Genetics|January 4, 2007
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancerSarah Reid, Detlev Schindler, Helmut Hanenberg, et al.American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, 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.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.Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Analysis of <i>BRCA1</i>, <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesSharon E Johnatty, Emma Tudini, Michael T Parsons, et al.American Journal of Human Genetics|October 31, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesSharon E Johnatty, Emma Tudini, Michael T Parsons, et al.Pageof 3