Results 181 to 190 of about 181,707 (268)

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report. [PDF]

Cell Mol Neurobiol
Trilla P, Rodriguez-Revenga L, Sanchez A, Madrigal I, Milisenda JC, Muñoz E, Alvarez-Mora MI.   +6 more
europepmc   +1 more source

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency. [PDF]

Respir Res
Matamala N, Osaba L, Drobnic E, Gil-Martín S, Martín-Galiano AJ, Almadana-Pacheco V, Cazorla MJ, Costa F, Souza-Sokoloski C, Çörtük M, Serra-Fortuny M, Ortiz-de Saracho J, Lloret-Queraltó JA, Rodriguez-Lázaro N, Michel-de la Rosa FJ, Rodríguez-Hermosa JL, Saldaña-Pérez L, Akıncı E, Alonso J, Benítez-Buelga C, Gómez-Mariano G, López-Campos JL, Martínez-Delgado B.   +22 more
europepmc   +1 more source

PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings. [PDF]

Respir Med Case Rep
Rodríguez Hermosa JL, Esmaili S, Ayat Ortiz S, Gómez Martín-Caro L, Matamala N, Martínez Delgado B, Calle Rubio M.   +6 more
europepmc   +1 more source

Understanding self-assembly across scales in BODIPY derivatives: from supramolecular aggregation in solution to optical-waveguiding crystalline materials. [PDF]

Chem Sci
González-Sánchez M, Garcia AM, Valera JS, Rodríguez AM, Cabanillas-González J, Prieto P, González-Rodríguez D.   +6 more
europepmc   +1 more source

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

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

Enfermedades raras Rare deseases

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

Aportar el valor de la salud a las personas, la misión de las organizaciones sanitarias [PDF]

, 2011
Varela, Jordi
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