Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. [PDF]
Cagnoli C +8 more
europepmc +1 more source
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. [PDF]
Saluto A +8 more
europepmc +1 more source
Genetic Susceptibility to ANCA-Associated Vasculitis: State of the Art. [PDF]
Bonatti F +3 more
europepmc +1 more source
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. [PDF]
Meloni I +9 more
europepmc +1 more source
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. [PDF]
Riva P +9 more
europepmc +1 more source
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. [PDF]
Scala E +11 more
europepmc +1 more source
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. [PDF]
Ruggieri M +7 more
europepmc +1 more source
La Guerra Cristera en la narrativa mexicana. Historia y ficción [PDF]
Arias-Urrutia, Á. (Ángel)
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