-
1
المؤلفون: Xingshun Xu, Siyi Gong, Bin Wang, Yingying Zhang, Feng Ji, Miao Sun
المصدر: Cellular Physiology and Biochemistry, Vol 50, Iss 1, Pp 398-409 (2018)
مصطلحات موضوعية: 0301 basic medicine, Physiology, Ciliopathies, lcsh:Physiology, Joubert syndrome, lcsh:Biochemistry, 03 medical and health sciences, Tectonic proteins, Ciliogenesis, GLI3, medicine, Humans, lcsh:QD415-436, Hedgehog Proteins, Cilia, Protein Interaction Maps, Sonic hedgehog, Ciliary membrane, Sonic Hedgehog signaling pathway, lcsh:QP1-981, biology, Cilium, Membrane Proteins, medicine.disease, Cell biology, 030104 developmental biology, biology.protein, Signal transduction, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac2ae2a561cbd855207839db60d936fTest
https://doi.org/10.1159/000494017Test -
2
المؤلفون: Mitesh Shetty, Nimmy Ramdas, Shubhi Sahni, Sridevi Hegde, Nandita Mullapudi
المصدر: Molecular Syndromology. 8:313-317
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Cilium, Genetic disorder, 030105 genetics & heredity, Biology, medicine.disease_cause, medicine.disease, Joubert syndrome, 03 medical and health sciences, Ciliopathy, Novel Insights from Clinical Practice, INPP5E, medicine, Missense mutation, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125a79ad7cffff1238f879b81130e1ceTest
https://doi.org/10.1159/000479673Test -
3
المؤلفون: Friedhelm Hildebrandt, Toby W. Hurd
المصدر: Nephron Experimental Nephrology. 118:e9-e14
مصطلحات موضوعية: Paper, Pathology, medicine.medical_specialty, Physiology, Senior–Løken syndrome, Ciliopathies, Joubert syndrome, Nephronophthisis, Genetics, medicine, Humans, Cilia, Meckel syndrome, Adaptor Proteins, Signal Transducing, Centrosome, business.industry, Cilium, Membrane Proteins, General Medicine, Kidney Diseases, Cystic, medicine.disease, Cell biology, Cytoskeletal Proteins, Nephrology, Mutation, Senior syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5255f214465efdc30775d3f666f80454Test
https://doi.org/10.1159/000320888Test