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1دورية أكاديمية
المؤلفون: Birgit Neitzel, Florian Aschermayer, Milan Kracalik, Sabine Hild
المصدر: Acta Polytechnica CTU Proceedings, Vol 3, Iss 0, Pp 47-50 (2016)
مصطلحات موضوعية: Engineering (General). Civil engineering (General), TA1-2040
وصف الملف: electronic resource
العلاقة: https://ojs.cvut.cz/ojs/index.php/APP/article/view/3424Test; https://doaj.org/toc/2336-5382Test
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المؤلفون: Jan Henkel, Andreas Laner, Melanie Locher, Tobias Wohlfrom, Birgit Neitzel, Kerstin Becker, Teresa Neuhann, Angela Abicht, Verena Steinke-Lange, Elke Holinski-Feder
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68d57d800bda26e09d18d49298adfdfcTest
https://doi.org/10.1038/s41431-023-01380-2Test -
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المؤلفون: Florian Aschermayer, Sabine Hild, Birgit Neitzel, Milan Kracalik
المصدر: Acta Polytechnica CTU Proceedings, Vol 3, Iss 0, Pp 47-50 (2016)
مصطلحات موضوعية: chemistry.chemical_classification, Materials science, Polymer, Microstructure, Characterization (materials science), Condensed Matter::Soft Condensed Matter, symbols.namesake, Crystallinity, Crystallography, Differential scanning calorimetry, chemistry, lcsh:TA1-2040, Microscopy, symbols, General Earth and Planetary Sciences, Composite material, Deformation (engineering), lcsh:Engineering (General). Civil engineering (General), Raman spectroscopy, General Environmental Science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02adb45cc772002b9439b812b20f1d73Test
https://doi.org/10.14311/app.2016.3.0047Test -
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المؤلفون: Ruth H. Walker, Antonio Velayos-Baeza, Birgit Neitzel, Benedikt Bader, Anthony P. Monaco, Elke Holinski-Feder, Edmund M. R. Critchley, Adrian Danek
مصطلحات موضوعية: Proband, Male, Movement disorders, Genotype, DNA Mutational Analysis, Vesicular Transport Proteins, Kentucky, Neurological disorder, Article, Acanthocytosis, Arts and Humanities (miscellaneous), Neuroacanthocytosis, medicine, Humans, Genetic Predisposition to Disease, Chorea acanthocytosis, Genetics, Family Health, business.industry, Haplotype, Chorea, medicine.disease, Mutation, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::406d858c700c48f27fdfa8d10d65e474Test
https://ora.ox.ac.uk/objects/uuid:150623bb-e55b-4443-9505-aa0c1f72ce42Test -
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المؤلفون: Peter Nürnberg, Rita Horvath, Mauro Santibanez-Koref, Elke Holinski-Feder, Gavin Hudson, Bernd Rautenstrauss, Hanns Lochmüller, Charlotte Foley, Gudrun Nürnberg, Sophie Hambleton, Thahira Rahman, Bernard Keavney, Patrick F. Chinnery, Vivienne C.M. Neeve, Angela Pyle, Helen Griffin, Benedikt Schoser, Ingelore Bäßmann, Jörg Kortler, Deephthi Ashok, Birgit Neitzel, John Loughlin
المصدر: Movement Disorders. 27:789-793
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Neurodegeneration with brain iron accumulation, Iron, Mutation, Missense, Biology, Consanguinity, Atrophy, Chromosome 19, medicine, Humans, Missense mutation, Child, Dystonia, Genetics, Genetic heterogeneity, Brain, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Disease gene identification, Pedigree, Optic Atrophy, Peripheral neuropathy, Neurology, Dystonic Disorders, Nerve Degeneration, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e98eb96a0b081e03bee6d78ccc5ef3Test
https://doi.org/10.1002/mds.24980Test -
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المؤلفون: E. Grasbon-Frodl, M. Gasteiger, Birgit Neitzel, F. Kooy, Elke Holinski-Feder
المصدر: Genetic testing
مصطلحات موضوعية: Male, Heterozygote, media_common.quotation_subject, Molecular Sequence Data, Fixed allele, Nerve Tissue Proteins, Biology, Carrier testing, Fragile X Mental Retardation Protein, medicine, Humans, Allele, Genetics (clinical), Repetitive Sequences, Nucleic Acid, media_common, Genetics, Daughter, Base Sequence, Point mutation, Haplotype, RNA-Binding Proteins, medicine.disease, Molecular biology, Pedigree, Fragile X syndrome, Haplotypes, Genetic marker, Fragile X Syndrome, Mutation, Female, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b586b7782208fe1987fbc8166ebb27cTest
https://doi.org/10.1089/109065703322783653Test -
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المؤلفون: Elke Holinski-Feder, Maria Gruber, Wolfgang Schmitt, Christa Doerner, Birgit Neitzel, Yvonne Mueller-Koch, Petra Ruemmele, Udo Koehler, Monika Grabowski, Brigitte Kerker, Wolfgang Dietmaier, Eva Grasbon-Frodl, Ulrike Siebers, Gisela Keller, Gabriele Henke, Holger Vogelsang, Reinhard Kopp
المصدر: Genetic testing. 9(2)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Biology, MLH1, Alu Elements, Gene Duplication, medicine, PMS2, Humans, Point Mutation, Multiplex ligation-dependent probe amplification, neoplasms, Genetics (clinical), In Situ Hybridization, Fluorescence, Sequence Deletion, Genetics, Base Sequence, Point mutation, nutritional and metabolic diseases, Microsatellite instability, Exons, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, digestive system diseases, MSH6, MSH2, DNA mismatch repair, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386ad53b7cc9a42b63ce047dcdb72a4bTest
https://pubmed.ncbi.nlm.nih.gov/15943554Test -
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المؤلفون: Birgit, Neitzel, Christine, Matern, Elke, Holinski-Feder
المصدر: Clinical laboratory. 49(7-8)
مصطلحات موضوعية: Venous Thrombosis, Mutation, Factor V, Humans, Reproducibility of Results, Prothrombin, DNA, Genetic Testing, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Chromatography, High Pressure Liquid, Methylenetetrahydrofolate Reductase (NADPH2), DNA Primers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::07c4d65cedfeee9d8f715f564712cc8bTest
https://pubmed.ncbi.nlm.nih.gov/12908731Test -
9دورية أكاديمية
المؤلفون: Monika Grabowski, Yvonne Mueller-Koch, Eva Grasbon-Frodl, Udo Koehler, Gisela Keller, Holger Vogelsang, Wolfgang Dietmaier, Reinhard Kopp, Ulrike Siebers, Wolfgang Schmitt, Birgit Neitzel, Maria Gruber, Christa Doerner, Brigitte Kerker, Petra Ruemmele, Gabriele Henke, Elke Holinski-Feder
المصدر: Genetic Testing; Summer2005, Vol. 9 Issue 2, p138-146, 9p