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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.
Circulation. 2017.
PMID: 28687708
Free article.
SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.
Copelli MM, Pairet E, Atique-Tacla M, Vieira TP, Appenzeller S, Helaers R, Vikkula M, Gil-da-Silva-Lopes VL.
Copelli MM, et al. Among authors: pairet e.
Genes (Basel). 2023 Apr 8;14(4):882. doi: 10.3390/genes14040882.
Genes (Basel). 2023.
PMID: 37107640
Free PMC article.
Review.
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Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.
Atique Tacla M, de Mello Copelli M, Pairet E, Monlleó IL, Ribeiro EM, Lustosa Mendes E, Helaers R, Vieira TP, Vikkula M, Gil-da-Silva-Lopes VL.
Atique Tacla M, et al. Among authors: pairet e.
Eur J Hum Genet. 2023 Nov 6. doi: 10.1038/s41431-023-01488-5. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 37932364
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Online 3-Dimensional Path Planning with Kinematic Constraints in Unknown Environments Using Hybrid A* with Tree Pruning.
Scharff Willners J, Gonzalez-Adell D, Hernández JD, Pairet È, Petillot Y.
Scharff Willners J, et al. Among authors: pairet e.
Sensors (Basel). 2021 Feb 6;21(4):1152. doi: 10.3390/s21041152.
Sensors (Basel). 2021.
PMID: 33562164
Free PMC article.
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