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발행년	- (예 : 2010-2015)

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Academic Journal

Smolen, C.; Jensen, M.; Pizzo, L.; Tyryshkina, A.; Banerjee, D.; Rohan, L.; Huber, E.; Girirajan, S.; Dyer, L.; Juusola, J.; El Khattabi, L.; Prontera, P.; Caberg, J.-H.; Van Dijck, A.; Kooy, R.F.; Schwartz, C.; Faivre, L.; Callier, P.; Lefebvre, M.; Mosca-Boidron, A.-L.; Pope, K.; Snell, P.; Lockhart, P.J.; Amor, D.J.; Castiglia, L.; Galesi, O.; Avola, E.; Fichera, M.; Bruccheri, M.G.; Mattina, T.; Romano, C.; Luana Mandarà, G.M.; Pichon, O.; Cuinat, S.; Mercier, S.; Bénéteau, C.; Isidor, B.; Le Caignec, C.; Stoeva, R.; Blesson, S.; Martin-Coignard, D.; Nordsletten, A.; Sistermans, E.

In: American Journal of Human Genetics. (American Journal of Human Genetics, 7 December 2023, 110(12):2015-2028)

Full Text (ScienceDirect 종량제) Open Access (EBSCO) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

Academic Journal

Jensen, M.; Tyryshkina, A.; Pizzo, L.; Smolen, C.; Das, M.; Huber, E.; Girirajan, S.; Krishnan, A.

In: Genome Medicine. (Genome Medicine, December 2021, 13(1))

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An approach for the optimization of 3d loudspeaker horns

Academic Journal

SMOLEN, C.; HALLEY, J.

In: AES: Journal of the Audio Engineering Society. (AES: Journal of the Audio Engineering Society, December 2020, 68(12):950-958)

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Gene discoveries in autism are biased towards comorbidity with intellectual disability

Academic Journal

Jensen, M.; Smolen, C.; Girirajan, S.

In: Journal of Medical Genetics. (Journal of Medical Genetics, 1 September 2020, 57(9):647-652)

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A Finite Element Model of the Foot/Ankle to Evaluate Injury Risk in Various Postures

Academic Journal

Smolen, C.; Quenneville, C.E.

In: Annals of Biomedical Engineering. (Annals of Biomedical Engineering, 1 August 2017, 45(8):1993-2008)

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The gene dose makes the disease

Academic Journal

Smolen, C.; Girirajan, S.

In: Cell. (Cell, 4 August 2022, 185(16):2850-2852)

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The effect of ankle posture on the load pathway through the hindfoot

Academic Journal

Smolen, C.; Quenneville, C.E.

In: Proceedings of the Institution of Mechanical Engineers, Part H: Journal of Engineering in Medicine. (Proceedings of the Institution of Mechanical Engineers, Part H: Journal of Engineering in Medicine, 1 November 2016, 230(11):1024-1035)

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A method for three-dimensional horn geometry optimization

Conference

Smolen, C.; Halley, J.

In: 147th Audio Engineering Society International Convention 2019, 147th Audio Engineering Society International Convention 2019. (147th Audio Engineering Society International Convention 2019, 2019)

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Gene discoveries in autism are biased towards comorbidity with intellectual disability

Jensen, M.; Smolen, C.; Girirajan, S.

In: bioRxiv. (bioRxiv, 26 July 2019)

Scopus

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