Results 161 to 170 of about 56,688 (228)

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

Enfermedades raras Rare deseases

Revista Cubana de Medicina General Integral, 2012
Miguel Lugones Botell, Marieta Ramírez Bermúdez   +1 more
openaire   +1 more source

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights. [PDF]

Ann Clin Transl Neurol
Muelas N, Iruzubieta P, Damborenea A, Pérez-Fernández L, Azorín I, Jiménez García JC, Töpf A, Martí P, Fores-Toribio L, Manterola M, Blanco-Mañez R, Pikatza-Menoio O, Alonso-Martín S, Straub V, Cortajarena AL, López de Munain A, De Sancho D, Blázquez L, Vilchez JJ.   +18 more
europepmc   +1 more source

Special Issue on Artificial Intelligence in Dermatology: A Call for Collaborative Innovation. [PDF]

Dermatol Pract Concept
Kittler H, Tschandl P, Barata C, Ge Z, Halpern A, Malvehy J, Argenziano G.   +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

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

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

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

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