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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
von Courraud, Jérémie ; Chater-Diehl, Eric ; Durand, Benjamin ; et al.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(11):2150-2159
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von Mirzaa, Ghayda M. ; Chong, Jessica X. ; Piton, Amélie ; et al.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(3):538-546
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4
von Vabres, Pierre ; Sorlin, Arthur ; Kholmanskikh, Stanislav S. ; et al.
Nature Genetics. 51(10):1438-1441
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von Ader, F. ; De Groote, P. ; Reant, P. ; et al.
Archives of Cardiovascular Diseases Supplements ; volume 11, issue 2, page 268 ; ISSN 1878-6480
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von Maillard AM ; Ruef A ; Pizzagalli F ; et al.
Schlagworte: Adolescent; Adult; Anthropometry; Arabidopsis Protein; Autistic Disorder; Body Mass Index; Brain; Brain Mapping; Child; Chromosomes; Human; Pair 16; DNA Copy Number Variation; Female; Gene Dosage; Genetic Association Studie; Intramolecular Transferase; Male; Middle Aged; Obesity; Phenotype; Psychiatric Status Rating Scale; Schizophrenia; Young Adult
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von Vabres, Pierre ; Sorlin, Arthur ; Kholmanskikh, Stanislav S. ; et al.
Nature Genetics. 52(3):353-353
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von Vabres, Pierre ; Sorlin, Arthur ; Kholmanskikh, Stanislav S. ; et al.
Nature Genetics. 51(11):1660-1660
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10
von Bodo, S. ; Colas, C. ; Buhard, O. ; et al.
Schlagworte: Adaptor Proteins; Signal Transducing; Adenosine Triphosphatases; Adult; Antineoplastic Agents; Alkylating; Biomarkers; Tumor; Brain Neoplasms; Caco-2 Cells; Case-Control Studies; Colorectal Neoplasms; Hereditary Nonpolyposis; DNA Mutational Analysis; DNA Repair Enzymes; DNA-Binding Proteins; Drug Resistance; Neoplasm; Female; Genetic Predisposition to Disease; Genetic Testing; Germ-Line Mutation; HCT116 Cells; Heredity; Humans; Lymphocytes; Male; Methylation; Microsatellite Instability; Mismatch Repair Endonuclease PMS2
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von Avila, M. ; Dyment, D.A. ; Sagen, J.V. ; et al.
Clinical Genetics ; volume 89, issue 4, page 501-506 ; ISSN 0009-9163 1399-0004
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von Chassaing, Nicolas ; Causse, A. ; Vigouroux, A. ; et al.
ISSN: 0009-9163.
Schlagworte: microphthalmia; anophthalmia; VSX2; SOX2; RAX; PAX6; OTX2; GDF6; FOXE3; MESH: Adolescent; MESH: Adult; MESH: Repressor Proteins / genetics; MESH: Anophthalmos / genetics; MESH: Female; MESH: Forkhead Transcription Factors / genetics; MESH: Genetic Heterogeneity; MESH: Anophthalmos / pathology; MESH: Child; Preschool; MESH: Eye Proteins / genetics; MESH: Growth Differentiation Factor 6 / genetics; MESH: Microphthalmos / diagnosis; MESH: Microphthalmos / genetics; MESH: Microphthalmos / pathology; MESH: Homeodomain Proteins / genetics; MESH: Humans; MESH: Infant; MESH: Male; MESH: Otx Transcription Factors / genetics; MESH: SOXB1 Transcription Factors / genetics
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von Molin, A-M ; Andrieux, J ; Koolen, D A ; et al.
Schlagworte: Copy-number variations
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von Chatron, N. ; Giannuzzi, G. ; Rollat-Farnier, P. ; et al.
53rd European Society of Human Genetics (ESHG) Conference; https://hal.science/hal-03131441; 53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.5-6, ⟨10.1038/s41431-020-00740-6⟩
Schlagworte: [SDV]Life Sciences [q-bio]
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von Mirzaa, G.M. ; Chong, J.X. ; Piton, A. ; et al.
Genetics in Medicine; 538; 546; 1098-3600; 3; 22; ~Genetics in Medicine~538~546~~~1098-3600~3~22~~
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von Jedraszak, G. ; Roux, N., De ; Jobic, F. ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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von Jobic, F. ; Broca, S., De ; Vargas-Poussou, R. ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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von Ader, F ; De Groote, P ; Reant, P ; et al.
European Heart Journal ; volume 40, issue Supplement_1 ; ISSN 0195-668X 1522-9645
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19
von Baer, S. ; Afenjar, A. ; Smol, T. ; et al.
ISSN: 0009-9163.
Schlagworte: intellectual disability; hypertrichosis; histone methylation; hairiness; Wiedemann-Steiner syndrome; KMT2A; MESH: Adolescent; MESH: Amino Acid Substitution; MESH: Child; Preschool; MESH: Disease Susceptibility; MESH: Female; MESH: France; MESH: High-Throughput Nucleotide Sequencing; MESH: Histone-Lysine N-Methyltransferase; MESH: Humans; MESH: Intellectual Disability; MESH: Magnetic Resonance Imaging; MESH: Male; MESH: Mutation; MESH: Myeloid-Lymphoid Leukemia Protein; MESH: Phenotype; MESH: Syndrome; MESH: Tomography; X-Ray Computed; [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
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20
von Schluth-Bolard, C. ; Diguet, F. ; Rollat-Farnier, P. A. ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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21
von Demeer, Bénédicte ; Basha, M. ; Boute, O. ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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von Jobic, Florence ; Morin, G. ; Vincent-Delorme, C. ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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24
von Jedraszak, G. ; Jobic, Florence ; Celton, Noémie ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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25
von Morin, G. ; Celton, Noémie ; Dery, T. ; et al.
ISSN: 1018-4813.
Schlagworte: [SDV]Life Sciences [q-bio]
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