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1 . Academic Journal
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome
저자
by
Guijarro, Francesca
;
López-Guerra, Monica
;
Morata, Jordi
;
Bataller, Alex
;
Paz, Sara
, et al.
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Blood Advances
10 October 2023 7(19):5799-5811
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7 . Academic Journal
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
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by
Olson, Nathan D.
;
Wagner, Justin
;
McDaniel, Jennifer
;
Stephens, Sarah H.
;
Westreich, Samuel T.
, et al.
소스
In
Cell Genomics
11 May 2022 2(5)
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7 . Academic Journal
Exome-wide rare variant analysis in familial essential tremor
저자
by
Diez-Fairen, Monica
;
Houle, Gabrielle
;
Ortega-Cubero, Sara
;
Bandres-Ciga, Sara
;
Alvarez, Ignacio
, et al.
소스
In
Parkinsonism and Related Disorders
January 2021 82:109-116
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7 . Academic Journal
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
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by
Fernández-Marmiesse, Ana
;
Sánchez-Iglesias, Sofía
;
Darling, Alejandra
;
O'Callaghan, María M.
;
Tonda, Raúl
, et al.
소스
In
Seizure: European Journal of Epilepsy
October 2019 71:161-165
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7 . Academic Journal
Wnt genes in colonic polyposis predisposition
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by
Quintana, Isabel
;
Terradas, Mariona
;
Mur, Pilar
;
te Paske, Iris B.A.W.
;
Peters, Sophia
, et al.
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Genes & Diseases
May 2023 10(3):753-757
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7 . Academic Journal
Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers.
저자
by
Pablo-Fontecha, Verónica
;
Hernández-Illán, Eva
;
Reparaz, Andrea
;
Asensio, Elena
;
Morata, Jordi
, et al.
소스
Scientific Reports
. 11/3/2023, Vol. 13 Issue 1, p1-11. 11p.
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7 . Academic Journal
A critical spotlight on the paradigms of FFPE-DNA sequencing.
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by
Steiert, Tim A
;
Parra, Genís
;
Gut, Marta
;
Arnold, Norbert
;
Trotta, Jean-Rémi
, et al.
소스
Nucleic Acids Research; 8/11/2023, Vol. 51 Issue 14, p7143-7162, 20p
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7 . Academic Journal
Hemostatic effect of activated recombinant factor VII (rFVIIa) in liver disease: studies in an in vitro model
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by
Tonda, Raúl
;
Galán, Ana Marı́a
;
Pino, Marcos
;
Cirera, Isabel
;
Bosch, Jaume
, et al.
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Journal of Hepatology
2003 39(6):954-959
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7 . Academic Journal
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
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by
Laurie, Steven
;
Piscia, Davide
;
Matalonga, Leslie
;
Corvó, Alberto
;
Fernández‐Callejo, Marcos
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p717-733, 17p
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7 . Academic Journal
ATRX driver mutation in a composite malignant pheochromocytoma
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by
Comino-Méndez, Iñaki
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Tejera, Águeda M.
;
Currás-Freixes, María
;
Remacha, Laura
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Gonzalvo, Pablo
, et al.
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Cancer Genetics
June 2016 209(6):272-277
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