Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and RECQL4[original query] |
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Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR. American journal of roentgenology 2008 Aug 191 (2): W62-6. Mehollin-Ray Amy R, Kozinetz Claudia A, Schlesinger Alan E, Guillerman R Paul, Wang Lisa |
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine 2016 May 4 (3): 359-66. Suter Aude-Annick, Itin Peter, Heinimann Karl, Ahmed Munaza, Ashraf Tazeen, Fryssira Helen, Kini Usha, Lapunzina Pablo, Miny Peter, Sommerlund Mette, Suri Mohnish, Vaeth Signe, Vasudevan Pradeep, Gallati Sabi |
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PLoS genetics 2018 Apr 14 (4): e1007355. Paulo Paula, Maia Sofia, Pinto Carla, Pinto Pedro, Monteiro Augusta, Peixoto Ana, Teixeira Manuel |
Werner Syndrome Protein Expression in Breast Cancer. Clinical breast cancer 2020 9 21 (1): 57-73.e7. Savva Constantinos, Sadiq Maaz, Sheikh Omar, Karim Syed, Trivedi Sachin, Green Andrew R, Rakha Emad A, Madhusudan Srinivasan, Arora Arvi |
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