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1 . Academic Journal
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants
저자
by
Richard Gallon
;
Carlijn Brekelmans
;
Marie Martin
;
Vincent Bours
;
Esther Schamschula
, et al.
소스
npj Precision Oncology, Vol 8, Iss 1, Pp 1-11 (2024)
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7 . Academic Journal
Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes
저자
by
Simon Schnaiter
;
Esther Schamschula
;
Juliane Laschtowiczka
;
Heidelinde Fiegl
;
Johannes Zschocke
, et al.
소스
Cancers, Vol 16, Iss 11, p 2129 (2024)
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7 . Academic Journal
LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data
저자
by
Li Fang
;
Charlly Kao
;
Michael V. Gonzalez
;
Fernanda A. Mafra
;
Renata Pellegrino da Silva
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
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7 . Academic Journal
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis
저자
by
Esther Schamschula
;
Miriam Kinzel
;
Annekatrin Wernstedt
;
Klaus Oberhuber
;
Hendrik Gottschling
, et al.
소스
Biomolecules, Vol 12, Iss 10, p 1350 (2022)
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7 . Academic Journal
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
저자
by
Victoria K. Tesch
;
Hanna IJspeert
;
Andrea Raicht
;
Daniel Rueda
;
Nerea Dominguez-Pinilla
, et al.
소스
Frontiers in Immunology, Vol 9 (2018)
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7 . Academic Journal
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum
저자
by
Ceres Fernández-Rozadilla
;
Miriam Alvarez-Barona
;
Esther Schamschula
;
Sahra Bodo
;
Anael Lopez-Novo
, et al.
소스
Cancers, Vol 11, Iss 8, p 1081 (2019)
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7 . Academic Journal
N-myc Modulates Expression of p73 in Neuroblastoma
저자
by
Xiaoxiang Zhu
;
Katharina Wimmer
;
Rork Kuick
;
Barbara J. Lamb
;
Stephanie Motyka
, et al.
소스
Neoplasia: An International Journal for Oncology Research, Vol 4, Iss 5, Pp 432-439 (2002)
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7 . Academic Journal
The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.
저자
by
Katharina Wimmer
;
Tom Callens
;
Annekatrin Wernstedt
;
Ludwine Messiaen
.
소스
PLoS Genetics, Vol 7, Iss 11, p e1002371 (2011)
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6 . Academic Journal
Constitutional mismatch repair-deficiency syndrome
저자
by
Katharina Wimmer
;
Christian P. Kratz
.
소스
Haematologica, Vol 95, Iss 5 (2010)
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4 .
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis
저자
by
Scott R. Plotkin
;
Ludwine Messiaen
;
Eric Legius
;
Patrice Pancza
;
Robert A. Avery
, et al.
소스
Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins
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