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1دورية أكاديمية
المؤلفون: Hayk Barseghyan, Doris Eisenreich, Evgenia Lindt, Martin Wendlandt, Florentine Scharf, Anna Benet-Pages, Kai Sendelbach, Teresa Neuhann, Angela Abicht, Elke Holinski-Feder, Udo Koehler
المصدر: Genes, Vol 15, Iss 3, p 342 (2024)
مصطلحات موضوعية: optical genome mapping, OGM, chromosome analysis, CA, chromosomal microarray analysis, CMA, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger
المصدر: Cells, Vol 10, Iss 10, p 2630 (2021)
مصطلحات موضوعية: Hermansky-Pudlak syndrome, HPS-11, bleeding tendency, hypopigmentation, oculocutaneous albinism, BLOC1S5, Cytology, QH573-671
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Emanuele G. Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen, Joachim Riedel
المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-1 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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المؤلفون: Carolina Courage, Udo Koehler, Stephanie Kleinle, Teresa Neuhann, Elke Holinski-Feder, Angela Abicht
المصدر: Gynäkologische Endokrinologie. 20:116-124
مصطلحات موضوعية: Reproductive Medicine, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::11673f587036bf3bb4f86080c6bd4130Test
https://doi.org/10.1007/s10304-021-00434-2Test -
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المؤلفون: Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Aurélie Drouet, Carolina Gómez, Estela Dámaso, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Andreas Laner, Julie Hauchard, Karine Chauris, Elke Holinski-Feder, Gabriel Capellá
المصدر: European journal of human genetics : EJHG. 30(9)
مصطلحات موضوعية: Alternative Splicing, DNA Repair Enzymes, Transcription, Genetic, Loss of Function Mutation, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Genetics, Humans, Protein Isoforms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8a12a3470ee37628b61410b1cd3809Test
https://pubmed.ncbi.nlm.nih.gov/35676339Test -
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المؤلفون: Florentine, Scharf, Rafaela Magalhaes, Leal Silva, Monika, Morak, Alex, Hastie, Julia M A, Pickl, Kai, Sendelbach, Christian, Gebhard, Melanie, Locher, Andreas, Laner, Verena, Steinke-Lange, Udo, Koehler, Elke, Holinski-Feder, Dieter A, Wolf
المصدر: Journal of medical genetics. 59(10)
مصطلحات موضوعية: Chromothripsis, DNA, Complementary, Genes, APC, Adenomatous Polyposis Coli, Axin Protein, Adenomatous Polyposis Coli Protein, Colonic Neoplasms, Humans, Genetic Predisposition to Disease, RNA, Messenger, beta Catenin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::366b2bf22ff0947a398166ebf9e7c864Test
https://pubmed.ncbi.nlm.nih.gov/34911816Test -
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المؤلفون: Udo Koehler, Tanja Haeusser, Brigitte Mauracher, Andreas Laner, Christiane Kling, Nils Rahner, Kerstin Schaefer, Verena Steinke-Lange, Monika Morak, Jessica Bailey, Susanne Keinath, Elke Holinski-Feder, Trisari Massdorf
المصدر: Eur J Hum Genet
مصطلحات موضوعية: DNA, Complementary, RNA Stability, Mutation, Missense, Biology, DNA Mismatch Repair, Article, Complementary DNA, Genetics, Humans, Missense mutation, RNA, Messenger, Allele, Gene, Alleles, Genetics (clinical), Messenger RNA, RNA, Exons, Nonsense Mediated mRNA Decay, Alternative Splicing, Gene Expression Regulation, Codon, Nonsense, RNA splicing, DNA mismatch repair, RNA Splice Sites, Colorectal Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26b955d50e7382adc08238bc3b0c6f4Test
https://doi.org/10.1038/s41431-019-0472-8Test -
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المؤلفون: Elke Holinski-Feder, Janine Graf, Brigitte Schönfeld, Andreas Laner, Udo Koehler, Ariane Hallermayr, Anna Benet-Pagès
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, NR_023343.1:n.116A>C, Case Report, Nucleotide substitution, Case Reports, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Critical regions, Medicine, RNU4ATAC gene, Nucleotide, Gene, Roifman Syndrome, Roifman syndrome, Genetics, chemistry.chemical_classification, NR_023343.1:n.13C>T, business.industry, RNU4ATAC, clinical exome sequencing, General Medicine, minor intron splicing, 030104 developmental biology, chemistry, snRNA U4atac, business, 030217 neurology & neurosurgery, Coding (social sciences)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996Test
https://doi.org/10.1002/ccr3.1830Test -
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المؤلفون: Florentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, Alex Hastie, Julia M A Pickl, Kai Sendelbach, Christian Gebhard, Melanie Locher, Andreas Laner, Verena Steinke-Lange, Udo Koehler, Elke Holinski-Feder, Dieter A Wolf
مصطلحات موضوعية: Chromosomal rearrangements, genomics, gastrointestinal diseases, gene expression profiling, gene rearrangement, genetics, medical, Genetics, Genetics (clinical), ddc
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8b4295c2d013950175836a8fc03078Test
https://mediatum.ub.tum.de/doc/1689191/document.pdfTest -
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المؤلفون: Doris Boeckelmann, Julia Kracht, Barbara Zieger, Katharina Neubauer, Janbernd Kirschner, Manuela Pendziwiat, Udo Koehler
المصدر: Cytoskeleton (Hoboken, N.j.)
مصطلحات موضوعية: Male, Heterozygote, Adolescent, Platelet Aggregation, early onset, Hereditary neuralgic amyotrophy, Biology, Kidney cysts, 03 medical and health sciences, Exon, 0302 clinical medicine, Structural Biology, Gene Duplication, Gene duplication, medicine, septins, Brachial Plexus Neuritis, Humans, Platelet, Child, Gene, Research Articles, 030304 developmental biology, 0303 health sciences, Cell Biology, Exons, medicine.disease, Flow Cytometry, hereditary neuralgic amyotrophy, Molecular analysis, Child, Preschool, Immunology, Mutation, pain attack, Female, medicine.symptom, Brachial plexus, septin 9, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488229d88878084af3a22263c4ba2e7eTest
https://pubmed.ncbi.nlm.nih.gov/30019529Test