Results 151 to 160 of about 56,471 (208)

Medicina de Precisión en las Enfermedades Raras

, 2020
Peer ...
openaire   +3 more sources

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in <i>Epm2b</i>-Deficient Mice. [PDF]

Int J Mol Sci
Zafra-Puerta L, Iglesias-Cabeza N, Sanz P, García-Gimeno MA, Sánchez-Martín G, Sánchez MP, Serratosa JM.   +6 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

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia. [PDF]

Orphanet J Rare Dis
Tejero E, de Haro MJR, Pujol R, Bogliolo M, Rodríguez-Santiago B, Surrallés J.   +5 more
europepmc   +1 more source

ROHHAD syndrome in an adult: presence of ZSCAN1 antibodies. [PDF]

ERJ Open Res
Ortega-González Á, Perea-Rozas R, Martínez-García A, Rodríguez-Argente F, Serafim AB, Olivé-Cirera G, Armangué T, Sabater L, Ortega-Moreno Á.   +8 more
europepmc   +1 more source