Results 151 to 160 of about 10,955 (198)

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. [PDF]

open access: yesJ Mol Diagn, 2004
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]

open access: yesJ Mol Diagn, 2005
Saluto A   +8 more
europepmc   +1 more source

Genetic Susceptibility to ANCA-Associated Vasculitis: State of the Art. [PDF]

open access: yesFront Immunol, 2014
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]

open access: yesAm J Hum Genet, 2000
Meloni I   +9 more
europepmc   +1 more source

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. [PDF]

open access: yesAm J Hum Genet, 2000
Riva P   +9 more
europepmc   +1 more source

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. [PDF]

open access: yesJ Med Genet, 2005
Scala E   +11 more
europepmc   +1 more source

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. [PDF]

open access: yesJ Med Genet, 1997
Ruggieri M   +7 more
europepmc   +1 more source

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