ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Autor: P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S.A. Schrier Vergano, M. Alders, F.S. Alkuraya, I. Alorainy, H.S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B.W. van Bon, T. Brunet, H. Brunner, M.L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R.K. Earl, E.E. Eichler, L. Faivre, N. Foulds, C. Graziano, A.M. Guerrot, M.O. Hashem, S. Heide, D. Heron, S.E. Hickey, S.M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J.S. Klein Wassink-Ruiter, E.C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G.S. Leszinski, L. Loberti, P.L. Magoulas, F. Mari, I. Maystadt, G. Merla, J.M. Milunsky, S. Moortgat, G. Nicolas, M.O.’ Leary, S. Odent, J.R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A.M. Pinto, B. Popp, A. Putoux, H.L. Rehm, A. Reis, A. Renieri, J.A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F.M. Sonmez, G. Strobl-Wildemann, K.E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B.B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K.R. Heitink, F.G. Ropers, D. Steenbeek, T. Rybak, G.W.E. Santen

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101873- (2024)

Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease’s natural history and

Externí odkaz: https://doaj.org/article/a69068b027154c3c8fb3c081422af42c

Simulation of the hydraulic system of a device with self-adaptation for power and kinematic parameters on the working body

Autor: T. A. Khinikadze, A. T. Rybak, P. I. Popikov

Publikováno v: Advanced Engineering Research, Vol 21, Iss 1, Pp 55-61 (2021)

Introduction. Currently, Russia has adopted a course towards the creation of intelligent machines and equipment. The same holds for mobile technological machines for road construction and public utilities. Therefore, the design and creation of this t

Externí odkaz: https://doaj.org/article/35ac8100895146518358d394abd7bbfa

THEORY AND CALCULATION METHODS OF THREE-D RIGIDITY OF HYDRAULIC DRIVE MACHINES ELEMENTS

Autor: Alexander T. RYBAK, Alexander G. EFIMENKO

Publikováno v: Вестник Донского государственного технического университета, Vol 10, Iss 6, Pp 890-895 (2018)

Calculation method for three-D rigidity coefficient of the elements of hydraulic drive machines is offered. Description of the stand for field research of the stiffness properties of the hydraulic systems pipelines, including three-D rigidity coeffic

Externí odkaz: https://doaj.org/article/68fe0510399b4929871e4789ea4f7eea

THEORETICAL RESEARCHES OF HYDROMECHANICAL SYSTEM WITH A SOURCE OF THE EXPENSE OF CONSTANT PRESSURE ON THE BASIS OF THE AUTOMATIC MACHINE OF UNLOADING WITH THE DIFFERENTIAL VALVE

Autor: S. A. Zatolokin, A. T. RYBAK

Publikováno v: Вестник Донского государственного технического университета, Vol 10, Iss 1, Pp 84-90 (2018)

In the work influence of constructive and functional parameters of the unloading automatic machine with the differential valve on work quality of hydromechanical system of constant pressure is investigated.

Externí odkaz: https://doaj.org/article/136062d75bab4a84aa79b77ea719c086

DEVELOPMENT OF MEDIA LITERACY OF APPLICANTS FOR AGRONOMIC SPECIALITIES BY THE MEANS OF JOURNALISTIC WEBQUESTS

Autor: І. Lazarenko, T. Rybak, V. Konovalova, M. Moroz

Publikováno v: Zhytomyr Ivan Franko state university journal. Рedagogical sciences. :209-218

The article is dedicated to a topical issue of developing media literacy in non-language university students as a component of teaching them English as a foreign language. The notions of media, mass media, media education, its aim, tasks and media li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::62a2817c347cfc35bb9d01209b50e457
https://doi.org/10.35433/pedagogy.1(108).2022.209-218