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UnknownAutozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
Not available
S-EPMC1287195 | biostudies-literature
UnknownA wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
Not available
S-EPMC4898336 | biostudies-literature
UnknownPrimary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.
Not available
S-EPMC1288208 | biostudies-literature
UnknownProphylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome.
Not available
S-EPMC2719744 | biostudies-literature
UnknownDeletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
Not available
S-EPMC1828695 | biostudies-literature
UnknownTowards the in vivo prediction of fragility fractures with Raman spectroscopy.
Not available
S-EPMC4976623 | biostudies-literature
UnknownMutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
Not available
S-EPMC1142516 | biostudies-literature
UnknownEvc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
Not available
S-EPMC3052239 | biostudies-literature
UnknownMutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
Not available
S-EPMC2714973 | biostudies-literature
UnknownInversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration.
Not available
S-EPMC3620528 | biostudies-literature
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