Browsing by Subject "Rare diseases"

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Factores de riesgo en las enfermedades genéticas

Abarca Barriga, Hugo H.; Chávez Pastor, Miguel; Trubnykova, Milana; La Serna-Infantes, Jorge E.; Poterico, Julio A. (Colegio Médico del Pérú, 2018-06-08)
Acceso abierto

Existen más de 10 000 enfermedades genéticas descritas en el mundo y afectan alrededor del 7% de la población mundial, causando alta morbimortalidad y costos para los sistemas de salud pública. Representan un reto diagnóstico ...
The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; Campo, Miguel del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo (Cell Press, 2024-05-06)
Acceso abierto

There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a diverse population drawn from both ...