المؤلفون: Emad Nikkhah, Reza Safaralizadeh, Javad Mohammadiasl, Maryam Tahmasebi Birgani, Mohammad Ali Hosseinpour Feizi, Neda Golchin

المصدر: Cell Journal, Vol 20, Iss 2, Pp 284-289 (2018)

مصطلحات موضوعية: Bardet-Biedl Syndrome, BBS12, Mutation, Sequence Analysis, Medicine, Science

وصف الملف: electronic resource

العلاقة: http://celljournal.org/journal/article/20096/downloadTest; https://doaj.org/toc/2228-5806Test; https://doaj.org/toc/2228-5814Test

الوصول الحر: https://doaj.org/article/bd4e0b3491f140a788fe34592b5576f0Test

المؤلفون: Neha Gupta, Mariavittoria D'Acierno, Enrica Zona, Giovambattista Capasso, Miriam Zacchia

المساهمون: Gupta, N., D'Acierno, M., Zona, E., Capasso, G., Zacchia, M.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. 190(1)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Bardet–Biedl syndrome, BBS6/MKKS, Chaperonins, BBS10, Group II Chaperonins, macromolecular substances, chaperonopathies, BBS12 and ciliopathie, chaperonin-like protein, Mutation, Genetics, Humans, Bardet-Biedl Syndrome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8217387ac2e863d338f5a4118ce05340Test
https://pubmed.ncbi.nlm.nih.gov/35373910Test

المؤلفون: Aruna Lakshmi Komarraju, Satyanarayana Rentala, Anusha Pusapati, Ramya Varada, Ravi Raju Tatapudi

المصدر: European Journal of Medical Case Reports. :112-116

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mutation, medicine.medical_specialty, business.industry, Cilium, Disease, medicine.disease_cause, medicine.disease, Bioinformatics, Ciliopathy, Bardet–Biedl syndrome, Molecular genetics, medicine, BBS12, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6fdebe697b3aeac3b0c0bb36915ba44aTest
https://doi.org/10.24911/ejmcr/173-1596446937Test

المؤلفون: Gupta N., D'Acierno M., Zona E., Capasso G., Zacchia M.

المساهمون: Gupta, N., D'Acierno, M., Zona, E., Capasso, G., Zacchia, M.

مصطلحات موضوعية: Bardet–Biedl syndrome, BBS10, BBS12 and ciliopathie, BBS6/MKKS, chaperonin-like protein, chaperonopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35373910; info:eu-repo/semantics/altIdentifier/wos/WOS:000777625500001; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/11591/469844Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127441189

الإتاحة: https://doi.org/10.1002/ajmg.c.31970Test
http://hdl.handle.net/11591/469844Test

المؤلفون: Lei Wang, Tianchang Tao, Genlin Li, Wei-Hua Chong, Liping Yang

المصدر: International Ophthalmology. 40:2325-2343

مصطلحات موضوعية: China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genotype, Eye disease, BBS7, DNA Mutational Analysis, BBS10, Ciliopathies, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Bardet–Biedl syndrome, Internal medicine, medicine, Humans, Bardet-Biedl Syndrome, business.industry, medicine.disease, Ophthalmology, Phenotype, Mutation, 030221 ophthalmology & optometry, BBS12, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5df62c2713f78bdc5cebeb217fa40d4Test
https://doi.org/10.1007/s10792-020-01415-3Test

المؤلفون: Erica E. Davis, Mihaela Bălgrădean, Carmen Burloiu, Sheraz Khan, Ina Ofelia Focșa, Laurențiu C Bohîlțea, Azita Sadeghpour, Magdalena Budișteanu

المصدر: Biomedical Reports. 15

مصطلحات موضوعية: Retinal degeneration, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Polydactyly, business.industry, General Neuroscience, Cilium, Context (language use), General Medicine, medicine.disease, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Ciliopathy, Bardet–Biedl syndrome, Medicine, BBS12, General Pharmacology, Toxicology and Pharmaceutics, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::98ebf4c95dada90d3c79d3a65fb16e56Test
https://doi.org/10.3892/br.2021.1479Test

المؤلفون: Sathya Priya Chandrasekar, Sripriya Sarangapani, Sheela Namboothiri, Parveen Sen

المصدر: Indian Journal of Medical Research, Vol 147, Iss 2, Pp 177-182 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Chaperonins, BBS1, DNA Mutational Analysis, Group II Chaperonins, BBS10, India, lcsh:Medicine, 030105 genetics & heredity, Biology, Gene mutation, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, MKKS, Consanguinity, 03 medical and health sciences, Bardet–Biedl syndrome, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Bardet-Biedl Syndrome, Genetics, ADP-Ribosylation Factors, Genetic heterogeneity, ARL6 - Bardet– Biedl syndrome - BBS10 - India, Homozygote, lcsh:R, Exons, General Medicine, Disease gene identification, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Mutation, Female, BBS12

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129e0d3293be756bc9f3c1beb2cf58b2Test
http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2018;volume=147;issue=2;spage=177;epage=182;aulast=ChandrasekarTest

المؤلفون: Meltem Cerrah Gunes, Ozgur Kirbiyik, Ferda Ozkinay, Ayca Aykut, Tahir Atik, Filiz Hazan, Hüseyin Onay, Aslı Ece Solmaz, Veysel Nijat Baş, Ozge Ozalp Yuregir

المساهمون: Ege Üniversitesi

المصدر: European Journal of Medical Genetics. 58:689-694

مصطلحات موضوعية: Adult, Male, BBS2, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, BBS1, Phenotype-genotype correlation, BBS7, DNA Mutational Analysis, BBS5, BBS10, Biology, Bioinformatics, MKKS, Young Adult, Bardet–Biedl syndrome, Bardet-Biedl syndrome, Genetics, medicine, Humans, Genetic Testing, Child, Alleles, Genetic Association Studies, Genetics (clinical), High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, Phenotype, Child, Preschool, Mutation, Next-generation sequencing, Female, BBS12

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff38e6e74967218709cb39016304adfTest
https://doi.org/10.1016/j.ejmg.2015.10.011Test

المؤلفون: Kazem Zibara, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alexandre Assi, George Cherfan, Charles Helou, Wissam H. Joumaa, Lama Jaffal

المصدر: Genes
Volume 10
Issue 12

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Sanger sequencing, Adolescent, Chaperonins, inherited retinal diseases, In silico, Usher syndrome, 030105 genetics & heredity, BBS9, Biology, Article, DNA sequencing, Young Adult, 03 medical and health sciences, symbols.namesake, Exome Sequencing, Genetics, medicine, Humans, Lebanon, Bardet-Biedl Syndrome, Genetic Association Studies, Genetics (clinical), Exome sequencing, next generation sequencing, Polymorphism, Genetic, ADP-Ribosylation Factors, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, Membrane Proteins, Phosphate-Binding Proteins, mutations, medicine.disease, Pedigree, nervous system diseases, Cytoskeletal Proteins, 030104 developmental biology, symbols, Female, BBS12, Usher Syndromes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db4ceb90045a740d63f16ff1648cd30Test
https://doi.org/10.3390/genes10121047Test

المؤلفون: Fiona Blanco-Kelly, Cristina Villaverde, Yichuan Liu, Olga Zurita, Maria Isabel Lopez-Molina, Luciana Rodrigues-Jacy da Silva, Rocío Sánchez-Alcudia, Blanca Garcia-Sandoval, Almudena Avila-Fernandez, Iker Sánchez-Navarro, Carmen Ayuso, Raquel Perez-Carro, Hakon Hakonarson, Marta Corton, Rosa Riveiro-Alvarez, Isabel Lorda, Diana Valverde, Noelia Sanchez-Bolivar, Saoud Tahsin-Swafiri, Lifeng Tian, Pablo Minguez

المساهمون: UAM. Departamento de Cirugía, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD)

المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
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Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, BBS2, Proband, DNA Copy Number Variations, Genotyping Techniques, BBS1, Ciliary CEP41 gene, Medicina, lcsh:Medicine, Computational biology, 030105 genetics & heredity, Ciliopathies, Article, MKKS, Cohort Studies, 03 medical and health sciences, Retinal Diseases, 18 genes, Humans, Medicine, Copy-number variation, lcsh:Science, Phenotypic and genotypic, Multidisciplinary, 2409 Genética, business.industry, lcsh:R, 3201.02 Genética Clínica, High-Throughput Nucleotide Sequencing, Retinal ciliopathies, Retinopathies, Pedigree, VPS13B, 030104 developmental biology, 3201.09 Oftalmología, lcsh:Q, Female, BBS12, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a4ed274ed8b186167d1bce70c7146cTest
http://hdl.handle.net/10486/683251Test