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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Search for Gamma-Ray Spectral Lines from Dark Matter Annihilation up to 100 TeV toward the Galactic Center with MAGIC.
Abe H, Abe S, Acciari VA, Aniello T, Ansoldi S, Antonelli LA, Arbet Engels A, Arcaro C, Artero M, Asano K, Baack D, Babić A, Baquero A, Barres de Almeida U, Barrio JA, Batković I, Baxter J, Becerra González J, Bednarek W, Bernardini E, Bernardos M, Berti A, Besenrieder J, Bhattacharyya W, Bigongiari C, Biland A, Blanch O, Bonnoli G, Bošnjak Ž, Burelli I, Busetto G, Carosi R, Carretero-Castrillo M, Ceribella G, Chai Y, Chilingarian A, Cikota S, Colombo E, Contreras JL, Cortina J, Covino S, D'Amico G, D'Elia V, Da Vela P, Dazzi F, De Angelis A, De Lotto B, Del Popolo A, Delfino M, Delgado J, Delgado Mendez C, Depaoli D, Di Pierro F, Di Venere L, Do Souto Espiñeira E, Dominis Prester D, Donini A, Dorner D, Doro M, Elsaesser D, Emery G, Fallah Ramazani V, Fariña L, Fattorini A, Font L, Fruck C, Fukami S, Fukazawa Y, García López RJ, Garczarczyk M, Gasparyan S, Gaug M, Giesbrecht Paiva JG, Giglietto N, Giordano F, Gliwny P, Godinović N, Green JG, Green D, Hadasch D, Hahn A, Hassan T, Heckmann L, Herrera J, Hrupec D, Hütten M, Imazawa R, Inada T, Iotov R, Ishio K, Jiménez Martínez I, Jormanainen J, Kerszberg D, Kobayashi Y, Kubo H, Kushida J, Lamastra A, Lelas D, Leone F, Lindfors E, Li… See abstract for full author list ➔ Abe H, et al. Among authors: mangano s. Phys Rev Lett. 2023 Feb 10;130(6):061002. doi: 10.1103/PhysRevLett.130.061002. Phys Rev Lett. 2023. PMID: 36827578
Symptom Burden before and after Dialysis Initiation in Older Patients.
de Rooij ENM, Meuleman Y, de Fijter JW, Jager KJ, Chesnaye NC, Evans M, Caskey FJ, Torino C, Porto G, Szymczak M, Drechsler C, Wanner C, Dekker FW, Hoogeveen EK; EQUAL study investigators. de Rooij ENM, et al. Clin J Am Soc Nephrol. 2022 Dec;17(12):1719-1729. doi: 10.2215/CJN.09190822. Epub 2022 Nov 10. Clin J Am Soc Nephrol. 2022. PMID: 36357126 Free PMC article.
Predicting Kidney Failure, Cardiovascular Disease and Death in Advanced CKD Patients.
Ramspek CL, Boekee R, Evans M, Heimburger O, Snead CM, Caskey FJ, Torino C, Porto G, Szymczak M, Krajewska M, Drechsler C, Wanner C, Chesnaye NC, Jager KJ, Dekker FW, Snoeijs MGJ, Rotmans JI, van Diepen M; EQUAL study investigators. Ramspek CL, et al. Kidney Int Rep. 2022 Aug 2;7(10):2230-2241. doi: 10.1016/j.ekir.2022.07.165. eCollection 2022 Oct. Kidney Int Rep. 2022. PMID: 36217520 Free PMC article.
137 results