Results 191 to 200 of about 181,707 (268)

From the rare to the essential: analyzing the needs of physicians and families managing rare diseases. [PDF]

BMC Health Serv Res
Mussio I, Triunfo P, Gerstenblüth M, Raggio V, Cardozo P, Naya H, Spangenberg L.   +6 more
europepmc   +1 more source

Modulation of the <i>ETV6::RUNX1</i> Gene Fusion Prevalence in Newborns by Corticosteroid Use During Pregnancy. [PDF]

Int J Mol Sci
Benítez L, Fischer U, Crispi F, Castro-Barquero S, Crovetto F, Larroya M, Youssef L, Kameri E, Castillo H, Bueno C, Casas R, Borras R, Vieta E, Estruch R, Menéndez P, Borkhardt A, Gratacós E.   +16 more
europepmc   +1 more source

A novel activating somatic mutation in EPAS1, coding for HIF-2α, in a patient with a paraganglioma and sickle cell disease. [PDF]

Arch Endocrinol Metab
Shekhda KM, Iyer R, Robledo M, Nara V, Luong TV, Caplin M, Grossman AB.   +6 more
europepmc   +1 more source

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases. [PDF]

Brain Commun
Juliá-Palacios N, Muñoz-Pujol G, Maroofian R, Bertoli-Avella AM, Gómez-Chiari M, Muchart-López J, Paredes-Fuentes AJ, O'Callaghan M, Machado-Casas IS, Cristian I, Morrison J, Garcia-Cazorla A, Codina A, Miryounesi M, Zonic E, Bauer P, Cheema H, Anjum MN, Al-Sannaa N, Abd Elmaksoud M, Ababneh F, Alijanpour S, Tonekaboni SH, Fayazi A, Urbaniak M, Barba U, Hoenicka J, Palau F, Houlden H, Ortigoza-Escobar JD, Ribes A, Santos-Ocaña C, Tyler M, Gaffney P, Carroll CJ, Tort F, Wierenga KJ, Webb BD, Artuch R, Baide-Mairena H, Urreizti R.   +40 more
europepmc   +1 more source

Corrigendum to "Prognostic Expression Signature of <i>RB1</i>, <i>PTEN</i>, and <i>TP53</i> Genes in Patients with Metastatic Hormone-sensitive Prostate Cancer Treated with Androgen Receptor Pathway Inhibitors" [Eur. Urol. Open Sci. 70 (2024) 86-90]. [PDF]

Eur Urol Open Sci
Garcia de Herreros M, Jiménez N, Rodríguez-Carunchio L, Lillo E, Marín-Aguilera M, Ferrer-Mileo L, Aversa C, García-Esteve S, Padrosa J, Trias I, Fernández-Mañas L, Font A, Chirivella I, Figols M, Climent MÁ, Prat A, Reig Ò, Mellado B.   +17 more
europepmc   +1 more source

Abnormal Splicing of <i>GALC</i> Transcripts Underlies Unusual Cases of Krabbe Disease. [PDF]

Biomedicines
Domínguez-Ruiz M, Chico JL, López-Marín L, Stanescu S, Crujeiras P, Rodrigues D, Heras-Alonso ML, Torremocha R, Meijón-Ortigueira MDM, Muñoz-Díez P, Lanza VF, Colón C, Villarrubia J, Belanger A, Castillo FJD.   +14 more
europepmc   +1 more source

Seeing nonspectral colors with single wavelength stimulation in two-photon vision. [PDF]

Biomed Opt Express
Emmerich L, Gil P, Manzanera S, Tabernero J, Artal P, Schwarz C.   +5 more
europepmc   +1 more source

Brain atrophy patterns in anti-IgLON5 disease. [PDF]

Brain
Yogeshwar SM, Bartels F, Grüter T, Muñiz-Castrillo S, Picard G, Crijnen YS, Bernard E, Heidbreder A, Zekeridou A, Ringelstein M, Kraft A, Kovac S, Wandinger KP, de Vries JM, Boon AJW, Veenbergen S, Geis C, Penner L, Melzer N, Leypoldt F, Blaabjerg M, Pittock SJ, Gaig C, Sabater L, Santamaria J, Graus F, Dalmau J, Prüss H, Höftberger R, Schreiner B, McKeon A, Lewerenz J, Irani S, Mignot E, Titulaer MJ, Ayzenberg I, Honnorat J, Finke C, IgLON5 Imaging Consortium .   +38 more
europepmc   +1 more source

Intrinsic immune properties of carrier MSC impact on the clinical outcome of children with solid tumors receiving oncolytic virotherapy. [PDF]

Exp Hematol Oncol
Morales-Molina A, Franco-Luzón L, Garcia-Rodriguez P, González-Murillo A, García-Castro J, Ramírez M.   +5 more
europepmc   +1 more source

[Systemic infection caused by <i>Magnusiomyces</i> spp. in oncohaematological patients]. [PDF]

Rev Esp Quimioter
Vargas-Herrera AI, Bolaños-Rivero M, Pisos-Álamo E, de-Miguel-Martínez I.   +3 more
europepmc   +1 more source