-
1دورية أكاديمية
المؤلفون: Gazmend Temaj, John A Sayer, Lidvana Spahiu, Thomas Liehr, Emir Behluli
المصدر: F1000Research, Vol 11 (2023)
مصطلحات موضوعية: Joubert syndrome, CEP290, molecular genetics, ciliopathy, retinal dystrophy, eng, Medicine, Science
وصف الملف: electronic resource
-
2
المؤلفون: John A. Sayer, Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari
المصدر: F1000Research. 6:669
مصطلحات موضوعية: 0301 basic medicine, Genetics, General Immunology and Microbiology, business.industry, General Medicine, 030105 genetics & heredity, Bioinformatics, medicine.disease, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Exon skipping, Joubert syndrome, 03 medical and health sciences, Exon, 030104 developmental biology, Nephronophthisis, RNA splicing, Genetic Pleiotropy, Medicine, In patient, General Pharmacology, Toxicology and Pharmaceutics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::186d8dadee0a32f33e93d8357bf9e2c7Test
https://doi.org/10.12688/f1000research.11553.1Test -
3
المؤلفون: Simon A. Ramsbottom, Colin G. Miles, John A. Sayer
المصدر: F1000Research
مصطلحات موضوعية: Cep290, Disease, Biology, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, 03 medical and health sciences, Nephronophthisis, Correspondence, medicine, General Pharmacology, Toxicology and Pharmaceutics, Allele, Neurogenetics, cystic kidney, 030304 developmental biology, Cystic kidney, Genetics, modifier, 0303 health sciences, General Immunology and Microbiology, Cilium, 030305 genetics & heredity, cilia, Articles, General Medicine, medicine.disease, Phenotype, nephronophthisis, Medical Genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f051602d48ae5327f2c6b58344035210Test
https://doi.org/10.12688/f1000research.6959.1Test