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UnknownLiver and kidney disease in ciliopathies.
Not available
S-EPMC2919058 | biostudies-literature
UnknownNeuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Not available
S-EPMC5682233 | biostudies-literature
UnknownThe α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome.
Not available
S-EPMC2953603 | biostudies-literature
UnknownDisorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Not available
S-EPMC2755194 | biostudies-literature
UnknownAn Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine.
Not available
S-EPMC9448604 | biostudies-literature
UnknownRespiratory manifestations in 38 patients with Alstrom syndrome.
Not available
S-EPMC7171443 | biostudies-literature
UnknownGrowth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Not available
S-EPMC7038632 | biostudies-literature
UnknownFibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
Not available
S-EPMC2963649 | biostudies-literature
UnknownCombined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Not available
S-EPMC5346474 | biostudies-literature
UnknownXia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
Not available
S-EPMC6549549 | biostudies-literature
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