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1 . Academic Journal
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma
저자
by
Verkerk, Annemieke J.M.H.
;
Andrei, Daniela
;
Vermeer, Mathilde C.S.C.
;
Kramer, Duco
;
Schouten, Marloes
, et al.
소스
In
Journal of Investigative Dermatology
February 2024 144(2):284-295
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7 . Academic Journal
Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes
저자
by
Goverde, Anne
;
Eikenboom, Ellis L.
;
Viskil, Ellemieke L.
;
Bruno, Marco J.
;
Doukas, Michael
, et al.
소스
In
Clinical Gastroenterology and Hepatology
May 2020 18(5):1112-1120
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7 . Academic Journal
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
저자
by
Hollestelle, Antoinette
;
van der Baan, Frederieke H.
;
Berchuck, Andrew
;
Johnatty, Sharon E.
;
Aben, Katja K.
, et al.
소스
In
Gynecologic Oncology
May 2016 141(2):386-401
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7 . Academic Journal
Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours
저자
by
Kattentidt Mouravieva, Anna A.
;
Geurts-Giele, Ina R.R.
;
de Krijger, Ronald R.
;
van Noesel, Max M.
;
van de Ven, Cees P.
, et al.
소스
In
European Journal of Cancer
August 2012 48(12):1867-1874
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7 . Academic Journal
Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years
저자
by
Leenen, Celine H.M.
;
van Lier, Margot G.F.
;
van Doorn, Helena C.
;
van Leerdam, Monique E.
;
Kooi, Sjarlot G.
, et al.
소스
In
Gynecologic Oncology
May 2012 125(2):414-420
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7 . Academic Journal
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis
저자
by
Goos, Jacqueline A.C.
;
Fenwick, Aimee L.
;
Swagemakers, Sigrid M.A.
;
McGowan, Simon J.
;
Knight, Samantha J.L.
, et al.
소스
Human Mutation
. Jun 06, 2016
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7 . Academic Journal
Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes
저자
by
Massink, Maarten P.G.
;
Kooi, Irsan E.
;
van Mil, Saskia E.
;
Jordanova, Ekaterina S.
;
Ameziane, Najim
, et al.
소스
Molecular Oncology
. Apr 01, 2015 9(4):877-888
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7 . Academic Journal
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
저자
by
Lin, Wei-Yu
;
Camp, Nicola J.
;
Ghoussaini, Maya
;
Beesley, Jonathan
;
Michailidou, Kyriaki
, et al.
소스
Human Molecular Genetics
. Jan 01, 2015 24(1):285-298
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7 . Academic Journal
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
저자
by
Milne, Roger L.
;
Burwinkel, Barbara
;
Michailidou, Kyriaki
;
Arias-Perez, Jose-Ignacio
;
Zamora, M. Pilar
, et al.
소스
Human Molecular Genetics
. Nov 15, 2014 23(22):6096-6111
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7 . Academic Journal
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
저자
by
Twigg, Stephen R.F.
;
Forecki, Jennifer
;
Goos, Jacqueline A.C.
;
Richardson, Ivy C.A.
;
Hoogeboom, A. Jeannette M.
, et al.
소스
American Journal of Human Genetics
. Sep2015, Vol. 97 Issue 3, p378-388. 11p.
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