[Spinal Muscular Atrophy: The Reality of the Adult Patient in Spain]. [PDF]
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Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]
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A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data. [PDF]
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The role of the Latin American Professional Society of Genetic Counseling (SPLAGen): Advancing genetic counseling in Latin America. [PDF]
Genet Med OpenDiaz Caro D, Simone L.
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Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital [PDF]
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Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review. [PDF]
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XXVI Reunión Anual de la Sociedad Extremeña de Neurología. Comunicaciones Orales y Póster. [PDF]
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Estudio comparativo de cuatro analizadores diferentes para la evaluación prenatal del riesgo de trisomía 21. [PDF]
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[Inequalities in time to diagnosis of Down Syndrome in Bolivia]. [PDF]
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