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El síndrome de nail-patella: presentación de 5 casos [PDF]

open access: yes, 2005
Se presentan 5 casos de síndrome de nail-patella de 2 familias distintas. En todos ellos eran evidentes los rasgos clínicos característicos de la enfermedad.
Arenas Miquélez, A.   +4 more
core  

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome [PDF]

open access: yes, 2018
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome.
Ashraf, S   +60 more
core  

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