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UnknownNovel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Not available
S-EPMC10545766 | biostudies-literature
UnknownBiallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Not available
S-EPMC11483032 | biostudies-literature
UnknownBi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Not available
S-EPMC12081275 | biostudies-literature
UnknownIFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Not available
S-EPMC4621372 | biostudies-literature
UnknownEvaluation of transport-related outcomes for neonatal transport teams with and without physicians.
Not available
S-EPMC8643583 | biostudies-literature
UnknownA homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Not available
S-EPMC3946372 | biostudies-literature
UnknownDevelopment of a risk score for early saphenous vein graft failure: An individual patient data meta-analysis.
Not available
S-EPMC7322547 | biostudies-literature
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