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1 . Academic Journal
Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
저자
by
Nicole Revencu
;
Astrid Eijkelenboom
;
Claire Bracquemart
;
Pia Alhopuro
;
Judith Armstrong
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
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7 . Academic Journal
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus
저자
by
Emmanuel Seront
;
Antoine Froidure
;
Nicole Revencu
;
Valerie Dekeuleneer
;
Philippe Clapuyt
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
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7 . Academic Journal
Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis
저자
by
Themis-Areti A. Andreoti
;
Aleksandra Tuleja
;
Yvonne Döring
;
Massimo Maiolo
;
André Schaller
, et al.
소스
Journal of Vascular Anomalies, Vol 4, Iss 4, p e076 (2023)
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7 . Academic Journal
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations
저자
by
Emmanuel Seront
;
An Van Damme
;
Catherine Legrand
;
Annouk Bisdorff-Bresson
;
Philippe Orcel
, et al.
소스
JCI Insight, Vol 8, Iss 21 (2023)
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7 . Academic Journal
Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data.
저자
by
Simon Boutry
;
Raphaël Helaers
;
Tom Lenaerts
;
Miikka Vikkula
.
소스
PLoS Computational Biology, Vol 19, Iss 9, p e1011488 (2023)
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6 . Academic Journal
The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations
저자
by
Anne Dompmartin
;
Eulalia Baselga
;
Laurence M. Boon
;
Andrea Diociaiuti
;
Veronika Dvorakova
, et al.
소스
Journal of Vascular Anomalies, Vol 4, Iss 2, p e064 (2023)
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7 . Academic Journal
Transcriptional drifts associated with environmental changes in endothelial cells
저자
by
Yalda Afshar
;
Feyiang Ma
;
Austin Quach
;
Anhyo Jeong
;
Hannah L Sunshine
, et al.
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eLife, Vol 12 (2023)
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7 . Academic Journal
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
저자
by
Sofia Papadimitriou
;
Barbara Gravel
;
Charlotte Nachtegael
;
Elfride De Baere
;
Bart Loeys
, et al.
소스
HGG Advances, Vol 4, Iss 1, Pp 100165- (2023)
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7 . Academic Journal
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
저자
by
Adrien Georges
;
Min-Lee Yang
;
Takiy-Eddine Berrandou
;
Mark K. Bakker
;
Ozan Dikilitas
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
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7 . Academic Journal
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
저자
by
Guillaume Canaud
;
Adrienne M. Hammill
;
Denise Adams
;
Miikka Vikkula
;
Kim M. Keppler-Noreuil
.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
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