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1دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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المؤلفون: S Cashman, G Novelli, M. De Arce, Willy Lissens, N Canki Klain, N Kapranov, Bernard Mercier, Xavier Estivill, A. Palacio, Luba Kalaydjieva
المصدر: Journal of Medical Genetics. 31:731-734
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease_cause, Cystic fibrosis, Exon, Genetics, medicine, Humans, Nucleotide, Genetics (clinical), chemistry.chemical_classification, Mutation, biology, Membrane Proteins, Exons, respiratory system, medicine.disease, Cystic fibrosis transmembrane conductance regulator, respiratory tract diseases, Transmembrane domain, A-site, Membrane protein, chemistry, biology.protein, Research Article
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المؤلفون: N. Canki-Klain
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Neurology, business.industry, Epidemiology, Limb girdle muscular dystrophies, autosomal recessive, LGMD2, 2A, 2I, 2B, Croatia, clinics, genetics, epidemiology, medicine, Clinical genetic, Neurology (clinical), business, medicine.disease, Limb-girdle muscular dystrophy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ffb01c608c5f233beff904d6989b1a
https://www.bib.irb.hr/274701 -
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المؤلفون: A. Bauer-Šegvić, A. Milić, D. Ljubanović, N. Canki-Klain
المصدر: Acta clinica Croatica
Volume 43
Issue 2وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______951::2e61b12c2e4c2da9bd20e9ba77c99b30
https://hrcak.srce.hr/file/23771 -
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المؤلفون: N, Canki-Klain, D, Récan, D, Milicić, S, Llense, F, Leturcq, N, Deburgrave, J C, Kaplan, M, Debevec, N, Zurak
المصدر: Croatian medical journal. 41(4)
مصطلحات موضوعية: Adult, Male, Blotting, Western, DNA Mutational Analysis, Membrane Proteins, Nuclear Proteins, Thymopoietins, Exons, Middle Aged, Muscular Dystrophy, Emery-Dreifuss, Pedigree, Phenotype, Carrier State, Humans, Female, Codon, Frameshift Mutation, Aged
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::935819ace429c048e178c07da1330214
https://pubmed.ncbi.nlm.nih.gov/11063761 -
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المؤلفون: N. Canki-Klain
المصدر: Revue Neurologique. 163:490-491
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, Juvenile Huntington Disease, business.industry, medicine, Neurology (clinical), business
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المؤلفون: Mary-Louise Bonduelle, G. Lenoir, Inge Liebaers, Federica Sangiuolo, Luba Kalaydjieva, Isabelle Quéré, Willy Lissens, C. Lenaerts, C. Verlingue, Bruno Dallapiccola, M.P. Audrézet, H. Guillermit, N Kapranov, P. Chauveau, S. M. Cashman, N Canki Klain, Claude Férec, G. Novelli, Bernard Mercier, M. De Arce, G. Rault
المصدر: Genomics. 16(1)
مصطلحات موضوعية: Genetics, Chromosome 7 (human), Mutation, Base Sequence, Cystic Fibrosis, DNA Mutational Analysis, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Membrane Proteins, DNA, Exons, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Cystic fibrosis transmembrane conductance regulator, Ion Channels, Chromosome 17 (human), Transmembrane domain, Exon, medicine, biology.protein, Humans, Gene
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المؤلفون: N, Canki-Klain
المصدر: Birth defects original article series. 29(1)
مصطلحات موضوعية: Adult, Male, Face, Holoprosencephaly, Infant, Newborn, Humans, Abnormalities, Multiple, Female, Eye Abnormalities, Mandible, Ear, External, Orbit, Facial Bones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8cf596712a9b767dded0e6044e4bea8c
https://pubmed.ncbi.nlm.nih.gov/8280885 -
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المؤلفون: M, Ravnik-Glavac, P, Gasparini, B, Peterlin, M, Strukelj, D, Glavac, N, Canki-Klain, P F, Pignatti, R, Komel
المصدر: Annales de genetique. 35(2)
مصطلحات موضوعية: Genetics, Population, Cystic Fibrosis, Haplotypes, Genetic Linkage, Mutation, Yugoslavia, Humans, DNA, Child, DNA Probes, Polymorphism, Restriction Fragment Length
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c66e3060b1b14ea26e461afca8a3a88f
https://pubmed.ncbi.nlm.nih.gov/1355957 -
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المؤلفون: N, Canki-Klain, V, Stanescu, R, Stanescu, J, Sinkovec, M, Debevec, P, Maroteaux
المصدر: Annales de genetique. 35(3)
مصطلحات موضوعية: Male, Thanatophoric Dysplasia, Abnormalities, Severe Teratoid, Infant, Newborn, Humans, Abnormalities, Multiple, Pedigree
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9a9d80ffbf14fc8bae7364509fb7b835
https://pubmed.ncbi.nlm.nih.gov/1466560