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Page 1
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Mendes M, Reuter MS, Anagnostou E, MacDonald JR, Ko SY, Frankland PW, Charlebois J, Elsabbagh M, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Corona RI, Russell BE, Nelson SF, Graziano C, Schwab M, Simone L, Zara F, Scherer SW. Scala M, et al. Among authors: keller r. Am J Hum Genet. 2024 Nov 28:S0002-9297(24)00412-9. doi: 10.1016/j.ajhg.2024.11.003. Online ahead of print. Am J Hum Genet. 2024. PMID: 39706195
MicroRNA in pediatric pulmonary hypertension microRNA profiling to inform disease classification, severity, and treatment response in pediatric pulmonary hypertension.
Smith MA, Chiacchia S, Boehme J, Datar SA, Morell E, Keller RL, Romer A, Colglazier E, Parker C, Becerra J, Fineman JR. Smith MA, et al. Among authors: keller rl. Am J Physiol Heart Circ Physiol. 2025 Jan 1;328(1):H47-H57. doi: 10.1152/ajpheart.00622.2024. Epub 2024 Nov 26. Am J Physiol Heart Circ Physiol. 2025. PMID: 39589759
Corrigendum to "Prognostic and predictive value of CA 19-9 inlocally advanced pancreatic cancer treated with multiagent induction chemotherapy: results from a prospective, multicenter phase II trial (NEOLAP-AIO-PAK-0113)": [ESMO Open 7 (2024) 100552].
Hartlapp I, Valta-Seufzer D, Siveke JT, Algül H, Goekkurt E, Siegler G, Martens UM, Waldschmidt D, Pelzer U, Fuchs M, Kullmann F, Boeck S, Ettrich TJ, Held S, Keller R, Anger F, Germer CT, Stang A, Kimmel B, Heinemann V, Kunzmann V; German Pancreatic Cancer Group (AIO-PAK) and NEOLAP investigators. Hartlapp I, et al. Among authors: keller r. ESMO Open. 2024 Oct;9(10):103705. doi: 10.1016/j.esmoop.2024.103705. Epub 2024 Aug 29. ESMO Open. 2024. PMID: 39461776 Free PMC article. No abstract available.
Protecting stable biological nomenclatural systems enables universal communication: A collective international appeal.
Jiménez-Mejías P, Manzano S, Gowda V, Krell FT, Lin MY, Martín-Bravo S, Martín-Torrijos L, Nieto Feliner G, Mosyakin SL, Naczi RFC, Acedo C, Álvarez I, Crisci JV, Luceño Garcés M, Manning J, Moreno Saiz JC, Muasya AM, Riina R, Meseguer AS, Sánchez-Mata D; 1543 additional coauthors. Jiménez-Mejías P, et al. Bioscience. 2024 Jun 19;74(7):467-472. doi: 10.1093/biosci/biae043. eCollection 2024 Jul. Bioscience. 2024. PMID: 39156614 Free PMC article.
An interdisciplinary consensus approach to pulmonary hypertension in developmental lung disease.
Varghese NP, Austin ED, Galambos C, Mullen MP, Yung D, Guillerman RP, Vargas SO, Avitabile CM, Chartan CA, Cortes-Santiago N, Ibach M, Jackson EO, Jarrell JA, Keller RL, Krishnan US, Patel KR, Pogoriler J, Whalen EC, Wikenheiser-Brokamp KA, Villafranco NM, Hopper RK, Usha Raj J, Abman SH; Pediatric Pulmonary Hypertension Network (PPHNet). Varghese NP, et al. Among authors: keller rl. Eur Respir J. 2024 Sep 26;64(3):2400639. doi: 10.1183/13993003.00639-2024. Print 2024 Sep. Eur Respir J. 2024. PMID: 39147412 Free PMC article. Review.
1,733 results