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1 . Periodical
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
저자
by
Garret, Philippine
;
Chevarin, Martin
;
Vitobello, Antonio
;
Verdez, Simon
;
Fournier, Cyril
, et al.
소스
European Journal of Human Genetics: EJHG; July 2023, Vol. 31 Issue: 7 p761-768, 8p
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7 . Academic Journal
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
저자
by
Kleinfinger, Pascale
;
Luscan, Armelle
;
Descourvieres, Léa
;
Buzas, Daniela
;
Boughalem, Aicha
, et al.
소스
Genes
. Nov2022, Vol. 13 Issue 11, p2027. 8p.
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7 . Academic Journal
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
저자
by
Kleinfinger, Pascale
;
Brechard, Marie
;
Luscan, Armelle
;
Trost, Detlef
;
Boughalem, Aicha
, et al.
소스
Frontiers in Genetics; 9/26/2022, Vol. 13, p1-7, 7p
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7 . Periodical
RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia
저자
by
Decroocq, Justine
;
Birsen, Rudy
;
Montersino, Camille
;
Chaskar, Prasad
;
Mano, Jordi
, et al.
소스
Leukemia; 20220101, Issue: Preprints p1-16, 16p
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7 . Academic Journal
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
저자
by
Garret, Philippine
;
Ebstein, Frédéric
;
Delplancq, Geoffroy
;
Dozieres‐Puyravel, Blandine
;
Boughalem, Aïcha
, et al.
소스
Clinical Genetics
. Apr2020, Vol. 97 Issue 4, p567-575. 9p. 2 Graphs.
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7 . Academic Journal
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
저자
by
Garret, Philippine
;
Bris, Céline
;
Procaccio, Vincent
;
Amati‐Bonneau, Patrizia
;
Vabres, Pierre
, et al.
소스
Human Mutation; Dec2019, Vol. 40 Issue 12, p2430-2443, 14p
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7 . Academic Journal
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
저자
by
Kleinfinger, Pascale
;
Lohmann, Laurence
;
Luscan, Armelle
;
Trost, Detlef
;
Bidat, Laurent
, et al.
소스
JOURNAL OF CLINICAL MEDICINE
; AUG 2020, 9 8, p2466 13p.
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7 .
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
저자
by
Le Roux, Bastien
;
Lenaers, Guy
;
Zanlonghi, Xavier
;
Amati-Bonneau, Patrizia
;
Chabrun, Floris
, et al.
소스
Human Mutation
Human Mutation, Wiley, 2019, 40 (12), pp.2430-2443. ⟨10.1002/humu.23885⟩
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7 . Periodical
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine
저자
by
Yauy, Kevin
;
Lecoquierre, François
;
Baert-Desurmont, Stéphanie
;
Trost, Detlef
;
Boughalem, Aicha
, et al.
소스
Genetics in Medicine; 20220101, Issue: Preprints
Full Text (ScienceDirect)
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7 . Periodical
Combination of the MEK Inhibitor Trametinib and Pyrvinium Pamoate Efficiently Targets RAS Pathway-Mutated Acute Myeloid Leukemia in Preclinical Models
저자
by
Decroocq, Justine
;
Birsen, Rudy
;
Mano, Jordi
;
Fouquet, Guillemette
;
Gotanègre, Mathilde
, et al.
소스
Blood; November 2019, Vol. 134 Issue: 1, Number 1 Supplement 1 p2671-2671, 1p
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