Sort   by:  
 Page size 
UnknownClassifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.
Not available
S-EPMC7141252 | biostudies-literature
UnknownA locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
Not available
S-EPMC1287937 | biostudies-literature
UnknownNovel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
Not available
S-EPMC3573191 | biostudies-literature
UnknownPOLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Not available
S-EPMC4684254 | biostudies-literature
UnknownA large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Not available
S-EPMC2986175 | biostudies-literature
UnknownEffect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Not available
S-EPMC1950837 | biostudies-literature
UnknownIn-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Not available
S-EPMC3487125 | biostudies-literature
Sort   by:  
 Page size