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1 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
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Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
저자
by
Adams, Lisa
;
Adlard, Julian
;
Alfonso, Rosa
;
Ali, Saira
;
Andrew, Angela
, et al.
소스
In
The Lancet Oncology
November 2021 22(11):1618-1631
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7 . Academic Journal
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
저자
by
Barnes, Daniel R.
;
Rookus, Matti A.
;
McGuffog, Lesley
;
Leslie, Goska
;
Mooij, Thea M.
, et al.
소스
In
Genetics in Medicine
October 2020 22(10):1653-1666
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7 . Academic Journal
Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study
저자
by
Adamson, Vanessa
;
Ainsworth, Sarah
;
Akerlund, Malin
;
Baker, Ivanna
;
Barwell, Julian
, et al.
소스
In
Clinical Breast Cancer
February 2019 19(1):e116-e126
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7 . Academic Journal
Adjusting the frequency of mammography screening on the basis of genetic risk: Attitudes among women in the UK
저자
by
Meisel, Susanne F.
;
Pashayan, Nora
;
Rahman, Belinda
;
Side, Lucy
;
Fraser, Lindsay
, et al.
소스
In
The Breast
June 2015 24(3):237-241
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7 . Academic Journal
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
저자
by
Bancroft, Elizabeth K.
;
Page, Elizabeth C.
;
Castro, Elena
;
Lilja, Hans
;
Vickers, Andrew
, et al.
소스
In
European Urology
September 2014 66(3):489-499
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7 . Academic Journal
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
저자
by
Mathers, John C
;
Movahedi, Mohammad
;
Macrae, Finlay
;
Mecklin, Jukka-Pekka
;
Moeslein, Gabriela
, et al.
소스
In
Lancet Oncology
December 2012 13(12):1242-1249
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7 . Academic Journal
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
저자
by
Burn, John
;
Gerdes, Anne-Marie
;
Macrae, Finlay
;
Mecklin, Jukka-Pekka
;
Moeslein, Gabriela
, et al.
소스
In
The Lancet
2011 378(9809):2081-2087
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7 . Academic Journal
Hereditary gastrointestinal polyposis syndromes Rare Disease Collaborative Network consensus statement agreed at the RDCN meeting Birmingham 17th February 2022
저자
by
Clark, Susan
;
Cuthill, Vicky
;
Hawkins, Jackie
;
Hyer, Warren
;
Latchford, Andy
, et al.
소스
BJC Reports
. 1(1)
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7 . Academic Journal
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
저자
by
Bernkopf, Marie
;
Abdullah, Ummi B.
;
Bush, Stephen J.
;
Wood, Katherine A.
;
Ghaffari, Sahar
, et al.
소스
Nature Communications
. 14(1)
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