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

A practical evaluation of micro-hydrokinetic power potential for the Continental United States

Autor: Joseph L. Gutenson, Kathleen A. Staebell, Mark D. Wahl, Aaron C. Petri, Michael P. Duczynski

Publikováno v: Journal of Hydrology: Regional Studies, Vol 47, Iss , Pp 101402- (2023)

Study region: Continental United States (CONUS) Study focus: Micro-hydrokinetic turbines are hydropower turbines that can utilize the current of the river to generate power without constructing a dam. Recent advances in micro-hydrokinetic turbine tec

Externí odkaz: https://doaj.org/article/80ac7e47f1794a62b5415dd1d04c4b86

LATERAL VARIATIONS IN BULK DENSITY AND POROSITY OF THE UPPER LUNAR CRUST FROM HIGH-RESOLUTION GRAVITY AND TOPOGRAPHY DATA: COMPARISON OF DIFFERENT ANALYSIS TECHNIQUES

Autor: D. Wahl, J. Oberst

Publikováno v: ISPRS Annals of the Photogrammetry, Remote Sensing and Spatial Information Sciences, Vol IV-2-W5, Pp 527-532 (2019)

We map lateral variations in bulk density of the upper lunar highland crust using the most recent GRAIL gravity field solution of degree and order 1500 in combination with LOLA topography data, both truncated to an upper limit of degree and order 700

Externí odkaz: https://doaj.org/article/392f73d23e3a4c09ac97879aebf3776f

Systemic lupus erythematosus and neutropaenia: a hallmark of haematological manifestations

Autor: Laurent Arnaud, Zahir Amoura, Thierry Martin, Anne-Sophie Korganow, Aurélien Guffroy, Jean Sibilia, François Maurier, Bernard Bonnotte, Andreas Schwarting, Gilles Blaison, Pierre Kieffer, Nadine Magy-Bertrand, J Sibilia, Yannick Dieudonne, C Fiehn, M Rizzi, R Voll, Z Amoura, C Sordet, M Bartsch, A Schwarting, L Arnaud, Christoph Fiehn, JE Gottenberg, R Max, H-H Peter, J-L Pasquali, T Martín, A Meyer, J Thiel, P Kieffer, N Venhoff, H Lorenz, F Maurier, Aurore Meyer, Hannes Martin Lorenz, Jean-Louis Pennaforte, Hans-Hartmut Peter, Reinhard Edmund Voll, G Blaison, B Bonnotte, E Chatelus, E Ciobanu, F Duchene, JP Faller, A Gorse, O Hinschberger, F Jaeger, M Kilifa, N Magy-Bertrand, L Martzolff, J-L Pennaforte, V Poindron, S Revuz, M Samson, A Theulin, D Wahl, JC Weber, N Bartholomä, S Finzel, A Funkert, M Hausberg

Publikováno v: Lupus Science and Medicine, Vol 7, Iss 1 (2020)

Objective Systemic lupus is a chronic autoimmune disease characterised by its phenotypic heterogeneity. Neutropaenia is a frequent event in SLE occurring in 20%–40% of patients depending on the threshold value of neutrophil count. On a daily basis,

Externí odkaz: https://doaj.org/article/af7b091098c243df9c71de7528e7d046

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