Results 101 to 110 of about 128,358 (156)

Impactos de la bioinformática y la genómica en la medicina del siglo XXI [PDF]

, 2001
Ibarrola, N., López-Campos, G. H., Martín Sánchez, Fernando, Rodríguez-Yáñez, Santiago   +3 more
core  

Análisis de roturas cromosómicas en un paciente con sospecha clínica de anemia de Fanconi

Revista Cubana de Hematología, Inmunología y Hemoterapia
La anemia de Fanconi (AF) es un síndrome de inestabilidad cromosómica caracterizado por diversos rasgos dismórficos, pancitopenia progresiva y predisposición a neoplasias hematológicas.
Reinaldo Gutiérrez Gutiérrez, Yohandra Calixto Robert, Judith Pupo Balboa, Luanda Maceira Rosales, Denia Tasé Vila, Gretel Riverón Forment   +5 more
doaj  

A new c.681dup RUNX1 variant in familial leukemia. [PDF]

Fam Cancer
Crocioni M, Nardelli C, Lema Fernandez AG, Bardelli V, Pierini V, Matteucci C, Beggiato E, Olivi M, Vigliani V, Pelle A, Lanzarone G, Mecucci C.   +11 more
europepmc   +1 more source

The mitogenome mutation repertoire affects progression of Parkinson's Disease. [PDF]

Genet Mol Biol
Matos GB, Santos CSD, Macêdo LCC, Diniz JPDS, Sousa TP, Cavalcante GC, Silva CS, Cruz RLDS, Moura DD, Ribeiro-Dos-Santos A, Santos-Lobato BL, Araújo GS.   +11 more
europepmc   +1 more source

Editorial: Women in brain health and clinical neuroscience III: 2025. [PDF]

Front Hum Neurosci
Morato Do Canto A, Soni S.
europepmc   +1 more source

Arx-related disorders: several distinct phenotypes, one mutated gene [PDF]

, 2013
Fortuna, A., Jorge, P., Marques, I., Santos, R., Silva, J., Soares, G., Sá, M.J.   +6 more
core  

Geographic and Socioeconomic Determinants of Treatment Abandonment in Pediatric Acute Leukemia: A Cohort Study in South-Central Mexico. [PDF]

Cancer Control
Núñez-Enriquez JC, Luna-Silva NC, Jacuinde-Trejo K, Flores-Lujano J, Medina-León D, Alarcón-Ruiz E, Garrido-Hernández MÁ, Cruz-Medina CS, Tinoco-Montejano D, Baños-Lara MDR, Campo-Martínez MLÁD, Duarte-Rodríguez DA, Allende-López A, Casique-Aguirre D, Elizarrarás-Rivas J, Olvera-Caraza D, Solís-Poblano JC, Terán-Cerqueda V, Ramírez-Ramírez D, Huerta-Moreno A, Aristil-Chery PM, Romo-Rodríguez R, Alvarez-Rodríguez E, Lien-Chang LEJ, Zamora-Herrera G, Hidalgo BG, Herrera-Olivares W, Ruíz-Arguelles GJ, Gallardo-Pérez MM, Chávez-Aguilar LA, Márquez-Toledo A, Cano-Cuapio LS, Ramos RH, Martínez-Martell MA, Ramirez-Ramirez AB, Brindis NR, Montiel-Jarquín AJ, Galván-Díaz CA, Velasco-Hidalgo L, Medina-Sanson A, Gutiérrez-Rivera ML, Cárdenas-Conejo A, Morales-Maravilla A, Victorio-García NP, Bekker-Méndez VC, Romero-Tlalolini MLÁ, Rodríguez-Espinosa JC, Mata-Rocha M, Olivares-Sosa AI, Rosas-Vargas H, Jiménez-Morales S, Martínez MEJ, Cárdenas-González M, Mejía-Aranguré JM, López-Aguilar E, Zapata-Tarrés M, Pelayo R.   +56 more
europepmc   +1 more source

Investigação das causas genéticas de doenças primárias do músculo: a experiência da unidade de genética molecular do CGMJM [PDF]

, 2013
Gonçalves, A., Maia, N., Oliveira, J., Oliveira, M., Santos, R., Vieira, E.   +5 more
core  

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 more
europepmc   +1 more source

Isolated Follicle-Stimulating Hormone (FSH) Deficiency in Male Sex: A Case Report. [PDF]

Cureus
Soares DM, Silva JD, Soares AR, Couto de Carvalho A.   +3 more
europepmc   +1 more source