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UnknownLinkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.
Not available
S-EPMC1226038 | biostudies-literature
UnknownA computational framework discovers new copy number variants with functional importance.
Not available
S-EPMC3066184 | biostudies-literature
UnknownGross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Not available
S-EPMC3376267 | biostudies-literature
UnknownMissense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Not available
S-EPMC1180360 | biostudies-literature
UnknownA three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
Not available
S-EPMC6117264 | biostudies-literature
UnknownRare variants in TP53 and susceptibility to neuroblastoma.
Not available
S-EPMC3982892 | biostudies-literature
UnknownDistinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Not available
S-EPMC1287887 | biostudies-literature
UnknownCommon variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.
Not available
S-EPMC5456408 | biostudies-literature
UnknownPaternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
Not available
S-EPMC1288162 | biostudies-literature
UnknownAssociation Between Cardiac Rehabilitation Participation and Health Status Outcomes After Acute Myocardial Infarction.
Not available
S-EPMC5482268 | biostudies-literature
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