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Items: 6

1.

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA.

Am J Med Genet A. 2020 Apr;182(4):652-658. doi: 10.1002/ajmg.a.61466. Epub 2019 Dec 28.

PMID:
31883306
2.

A straightforward method for quantification of vinyl functionalized water soluble alginates via 13C-NMR spectroscopy.

Stubbe B, Graulus GJ, Reekmans G, Courtin T, Martins JC, Van Vlierberghe S, Dubruel P, Adriaensens P.

Int J Biol Macromol. 2019 Aug 1;134:722-729. doi: 10.1016/j.ijbiomac.2019.05.015. Epub 2019 May 9.

PMID:
31078596
3.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.

AJNR Am J Neuroradiol. 2019 May;40(5):788-791. doi: 10.3174/ajnr.A6036. Epub 2019 Apr 25.

4.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
5.

Increasing water solubility with decreasing droplet size limits the use of water NMR diffusometry in submicron W/O-emulsion droplet size analysis.

Balcaen M, De Neve L, Vermeir L, Courtin T, Dewettinck K, Sinnaeve D, Van der Meeren P.

J Colloid Interface Sci. 2018 Mar 15;514:364-375. doi: 10.1016/j.jcis.2017.12.049. Epub 2017 Dec 19.

PMID:
29278792
6.

Block and Gradient Copoly(2-oxazoline) Micelles: Strikingly Different on the Inside.

Filippov SK, Verbraeken B, Konarev PV, Svergun DI, Angelov B, Vishnevetskaya NS, Papadakis CM, Rogers S, Radulescu A, Courtin T, Martins JC, Starovoytova L, Hruby M, Stepanek P, Kravchenko VS, Potemkin II, Hoogenboom R.

J Phys Chem Lett. 2017 Aug 17;8(16):3800-3804. doi: 10.1021/acs.jpclett.7b01588. Epub 2017 Aug 2.

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