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1 . Academic Journal
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents
저자
by
Liebmann, Alexandra
;
Admard, Jakob
;
Armeanu-Ebinger, Sorin
;
Wild, Hannah
;
Abele, Michael
, et al.
소스
In
eBioMedicine
October 2023 96
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
저자
by
Capella, Gabriel
;
Evans, Gareth
;
Rump, Andreas
;
Schröck, Evelin
;
Hoischen, Alexander
, et al.
소스
In
European Journal of Medical Genetics
May 2022 65(5)
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7 . Academic Journal
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.
저자
by
Segarra-Casas, Alba
;
Yépez, Vicente A.
;
Demidov, German
;
Laurie, Steven
;
Esteve-Codina, Anna
, et al.
소스
International Journal of Molecular Sciences
. Jul2024, Vol. 25 Issue 14, p7793. 12p.
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7 . Academic Journal
Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy
저자
by
Zwirner, Kerstin
;
Hilke, Franz J.
;
Demidov, German
;
Ossowski, Stephan
;
Gani, Cihan
, et al.
소스
In
Radiotherapy and Oncology
December 2018 129(3):575-581
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7 . Periodical
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
저자
by
Schmidt, Axel
;
Danyel, Magdalena
;
Grundmann, Kathrin
;
Brunet, Theresa
;
Klinkhammer, Hannah
, et al.
소스
Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p
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7 . Academic Journal
Titin copy number variations associated with dominant inherited phenotypes.
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by
Perrin, Aurélien
;
Métay, Corinne
;
Savarese, Marco
;
Ben Yaou, Rabah
;
Demidov, German
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p369-377, 11p
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7 . Academic Journal
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
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by
Demidov, German
;
Laurie, Steven
;
Torella, Annalaura
;
Piluso, Giulio
;
Scala, Marcello
, et al.
소스
European Journal of Human Genetics
. 32(8):998-1004
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7 . Academic Journal
Genomes in clinical care.
저자
by
Riess, Olaf
;
Sturm, Marc
;
Menden, Benita
;
Liebmann, Alexandra
;
Demidov, German
, et al.
소스
NPJ Genomic Medicine; 3/14/2024, Vol. 9 Issue 1, p1-10, 10p
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7 . Periodical
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
저자
by
Wijngaard, Robin
;
Demidov, German
;
O’Gorman, Luke
;
Corominas-Galbany, Jordi
;
Yaldiz, Burcu
, et al.
소스
European Journal of Human Genetics: EJHG; February 2024, Vol. 32 Issue: 2 p200-208, 9p
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