{"id":"W2623299408","doi":"10.14740/jmc.v8i6.2832","title":"Joubert Syndrome: A Rare Case Report From Saudi Arabia","year":2017,"lang":"en","type":"article","venue":"Journal of Medical Cases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Hypotonia; Failure to thrive; Joubert syndrome; Pediatrics; Nystagmus; Global developmental delay; Respiratory distress; Fourth ventricle; Magnetic resonance imaging; Hypoplasia; Bulbar palsy; Rare disease; Surgery; Radiology; Disease; Pathology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002366335,0.001535906,0.0009991038,0.002625808,0.002305971,0.001560559,0.0008053189,0.002802042,0.002566287],"category_scores_gemma":[0.001804312,0.0008578995,0.0005760926,0.001474602,0.001121766,0.001507455,0.001712087,0.001057361,0.000566119],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006059114,"about_ca_system_score_gemma":0.0008013044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003554821,"about_ca_topic_score_gemma":0.004056418,"domain_scores_codex":[0.9994718,0.00006087657,0.0001013572,0.0001317522,0.0000907374,0.0001434071],"domain_scores_gemma":[0.9989741,0.0001660593,0.0004180827,0.00006448531,0.00009699799,0.0002801897],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00002661198,0.00002057238,0.01424474,0.00004574383,0.00001416274,0.9815959,0.0005229658,0.00003270274,0.001117656,0.0001591849,0.0004536202,0.001766117],"study_design_scores_gemma":[0.000006207617,0.00001532078,0.004312361,0.00001522131,0.00001014901,0.9944246,0.0002906266,0.00005151169,0.0001365938,0.00008421954,0.0006458282,0.000007377692],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858856,0.006779592,0.000949671,0.001147126,0.0001813854,0.00007156801,0.0002038036,0.00007043272,0.00471078],"genre_scores_gemma":[0.994442,0.002927733,0.0006584236,0.0004970052,0.0003086741,0.00001798648,0.0001308539,0.00002588818,0.0009914306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003554821,"threshold_uncertainty_score":0.008585036,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01800370535902053,"score_gpt":0.3000583150294069,"score_spread":0.2820546096703864,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}