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2مورد إلكتروني
المصدر: Cindrić , S , Dougherty , G W , Olbrich , H , Hjeij , R , Loges , N T , Amirav , I , Philipsen , M C , Marthin , J K , Nielsen , K G , Sutharsan , S , Raidt , J , Werner , C , Pennekamp , P , Dworniczak , B & Omran , H 2020 , ' SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics ' , American Journal of Respiratory Cell and Molecular Biology , vol. 62 , no. 3 , pp. 382-396 .
مصطلحات الفهرس: Axoneme/chemistry, Cell Cycle Proteins/deficiency, Cilia/chemistry, Ciliary Motility Disorders/diagnosis, Codon, Nonsense, Cohort Studies, DNA Mutational Analysis, Epithelial Cells/cytology, Female, Genetic Heterogeneity, Homozygote, Humans, Loss of Function Mutation, Male, Microfilament Proteins/genetics, Microscopy, Electron, Transmission, Microscopy, Fluorescence, Mucociliary Clearance/genetics, Mutation, Mutation, Missense, Pedigree, Primary Cell Culture, Situs Inversus/diagnosis, article
URL:
https://curis.ku.dk/portal/da/publications/spef2-and-hydinmutant-cilia-lack-the-central-pairassociated-protein-spef2-aiding-primary-ciliary-dyskinesia-diagnostics(5e5dd589-df7b-4e75-a4dd-b830af1129a9).html https://doi.org/10.1165/rcmb.2019-0086OC -
3دورية أكاديمية
عنوان ترانسليتريتد: Su un caso di situs inversus viscerum; studio clinico-strumentale dell'apparato cardiovascolare con particolare riguardo al BCG.
المؤلفون: NIGRO G
المصدر: Minerva cardioangiologica [Minerva Cardioangiol] 1956 Nov; Vol. 4 (11), pp. 674-6.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Edizioni Minerva Medica Country of Publication: Italy NLM ID: 0400725 Publication Model: Print Cited Medium: Print ISSN: 0026-4725 (Print) Linking ISSN: 00264725 NLM ISO Abbreviation: Minerva Cardioangiol Subsets: OLDMEDLINE
مواضيع طبية MeSH: Ballistocardiography* , Cardiovascular System* , Dextrocardia* , Electrocardiography* , Genetic Diseases, X-Linked* , Heterotaxy Syndrome*, Situs Inversus/*diagnosis, Humans
SCR Disease Name: Heterotaxy, visceral, X-linked
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4دورية أكاديمية
عنوان ترانسليتريتد: Inversion viscérale complète; etude bronchoscopique et bronchographique.
المؤلفون: ZAIMI A, ZAIMI I, RAJBULLY A
المصدر: La Tunisie medicale [Tunis Med] 1957 Nov; Vol. 45 (8), pp. 710-1.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Societe Tunisienne Des Sciences Medicales Country of Publication: Tunisia NLM ID: 0413766 Publication Model: Print Cited Medium: Print ISSN: 0041-4131 (Print) Linking ISSN: 00414131 NLM ISO Abbreviation: Tunis Med Subsets: OLDMEDLINE
مواضيع طبية MeSH: Bronchi* , Bronchoscopy*, Situs Inversus/*diagnosis, Humans
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5دورية أكاديمية
المؤلفون: GROOM D
المصدر: Journal of the South Carolina Medical Association [J S C Med Assoc] 1962 Feb; Vol. 58, pp. 52.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: South Carolina Medical Association] Country of Publication: United States NLM ID: 101245535 Publication Model: Print Cited Medium: Print NLM ISO Abbreviation: J S C Med Assoc Subsets: OLDMEDLINE
مواضيع طبية MeSH: Dextrocardia* , Electrocardiography*, Situs Inversus/*diagnosis, Humans