Sort   by:  
 Page size 
UnknownIn-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Not available
S-EPMC3487125 | biostudies-literature
UnknownThe mutation spectrum in RECQL4 diseases.
Not available
S-EPMC2986053 | biostudies-literature
UnknownExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Not available
S-EPMC6189044 | biostudies-literature
UnknownA large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Not available
S-EPMC2986175 | biostudies-literature
UnknownMyhre and LAPS syndromes: clinical and molecular review of 32 patients.
Not available
S-EPMC4200423 | biostudies-literature
UnknownEffect of Early Treatment of Spasticity After Stroke on Motor Recovery: Protocol for the Baclotox Multicenter, Double-Blind, Double-Dummy Randomized Controlled Trial.
Not available
S-EPMC12102626 | biostudies-literature
UnknownThe expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Not available
S-EPMC5070901 | biostudies-literature
UnknownEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Not available
S-EPMC10853222 | biostudies-literature
UnknownPhenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Not available
S-EPMC8093014 | biostudies-literature
UnknownPhenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Not available
S-EPMC9132874 | biostudies-literature
Sort   by:  
 Page size