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Blood|March 23, 2006
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein responseInga Köllner, Beate Sodeik, Sabine Schreek, et al.
International Journal of Cancer|April 25, 2007
DNA damage response involves modulation of Ku70 and Rb functions by cyclin A1 in leukemia cellsPing Ji, Nicole Bäumer, Taijun Yin, et al.
Cancer Genetics|July 15, 2025
Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mappingB Aldrige Allister, Jonathan L Lühmann, Lena Wendeburg, et al.
Oncogene|April 15, 2005
Cyclin A1, the alternative A-type cyclin, contributes to G1/S cell cycle progression in somatic cellsPing Ji, Shuchi Agrawal, Sven Diederichs, et al.
Blood|March 16, 2006
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2Johannes Jung, Georg Bohn, Anna Allroth, et al.
Human Mutation|April 14, 2025
A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC PatientsJanin Klein, Aldrige B Allister, Gunnar Schmidt, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patientsLily Guo, Jiyeon Park, Edward Yi, et al.
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