-
1دورية أكاديمية
المؤلفون: Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis, Peter N Robinson, Christopher J Mungall
المصدر: F1000Research, Vol 2 (2014)
مصطلحات موضوعية: Bioinformatics, Medicine, Science
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis, Peter N Robinson, Christopher J Mungall
المصدر: F1000Research, Vol 2 (2013)
مصطلحات موضوعية: Bioinformatics, Medicine, Science
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Elisa Degenkolbe, Jana König, Julia Zimmer, Maria Walther, Carsten Reißner, Joachim Nickel, Frank Plöger, Jelena Raspopovic, James Sharpe, Katarina Dathe, Jacqueline T Hecht, Stefan Mundlos, Sandra C Doelken, Petra Seemann
المصدر: PLoS Genetics, Vol 9, Iss 10, p e1003846 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3789827?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
-
4دورية أكاديمية
المؤلفون: Julia Zimmer, Sandra C Doelken, Denise Horn, Jay C Groppe, Eileen M Shore, Frederick S Kaplan, Petra Seemann
المصدر: PLoS ONE, Vol 7, Iss 4, p e35062 (2012)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3329551?pdf=renderTest; https://doaj.org/toc/1932-6203Test
-
5دورية أكاديمية
المؤلفون: Sandra C. Doelken, Sebastian Köhler, Christopher J. Mungall, Georgios V. Gkoutos, Barbara J. Ruef, Cynthia Smith, Damian Smedley, Sebastian Bauer, Eva Klopocki, Paul N. Schofield, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis
المصدر: Disease Models & Mechanisms, Vol 6, Iss 2, Pp 358-372 (2013)
العلاقة: http://dmm.biologists.org/content/6/2/358Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test; https://doaj.org/article/8d289e5bf42241ceb794222e81c08d5aTest
الإتاحة: https://doi.org/10.1242/dmm.010322Test
https://doaj.org/article/8d289e5bf42241ceb794222e81c08d5aTest -
6
المؤلفون: Rolf Habenicht, Silke Lohan, Klaus W. Kjaer, F. Muhammad, Stefan Mundlos, Hugo Abarca-Barriga, Ricarda Flöttmann, Shahid Mahmood Baig, Katta M. Girisha, Eva Klopocki, Malte Spielmann, Wiebke Hülsemann, Sandra C. Doelken, Siddaramappa J. Patil, Muhammad Wajid
المصدر: Clinical Genetics. 86:318-325
مصطلحات موضوعية: Genetics, Chromosome, Anatomy, Biology, medicine.disease, Phenotype, Mirror image polydactyly, Polysyndactyly, Gene duplication, biology.protein, medicine, Syndactyly, Sonic hedgehog, Enhancer, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::753f2195bd380152b1a90759e2dcb907Test
https://doi.org/10.1111/cge.12352Test -
7Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
المؤلفون: Alexandra Deichsel, Guntram Borck, Christian Bassir, Sandra C. Doelken, Eva Klopocki, Jamil Ahmad, Ulrike Wille, Thomas D. Mueller, Naseebullah Kakar, Christian Kubisch, Stefan Mundlos, Petra Seemann, Randi Koll, Luitgard Graul-Neumann, Valérie Cormier-Daire
المصدر: European Journal of Human Genetics. 22:726-733
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, media_common.quotation_subject, DNA Mutational Analysis, Molecular Sequence Data, Nonsense, Nonsense mutation, Mutation, Missense, Consanguinity, Osteochondrodysplasias, medicine.disease_cause, Article, Mice, Young Adult, Molecular genetics, Genetics, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Bone Morphogenetic Protein Receptors, Type I, Genetics (clinical), Grebe, media_common, Family Health, Mutation, Sequence Homology, Amino Acid, biology, Homozygote, biology.organism_classification, Molecular biology, Musculoskeletal Abnormalities, Pedigree, BMPR1B, Phenotype, Codon, Nonsense, Child, Preschool, NIH 3T3 Cells, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b4123caa8a69268b99f9b9ddda1361Test
https://doi.org/10.1038/ejhg.2013.222Test -
8
المؤلفون: Bernd Timmermann, Marten Jäger, Peter Hansen, Denise Horn, Peter Krawitz, Mareen Schmidt-von Kegler, Stefan Mundlos, Sandra C. Doelken, Gundula Leschik, Florian Wagner, Petra Seemann, Daniel M. Ibrahim, Peter N. Robinson, Asita C. Stiege, Jochen Hecht, Till Scheuer, Catrin Janetzki, Christian Rödelsperger
المصدر: Genome Research
Europe PubMed Centralمصطلحات موضوعية: Chromatin Immunoprecipitation, Glutamine, Mutant, Limb Deformities, Congenital, Mutation, Missense, Chick Embryo, Biology, Receptor Tyrosine Kinase-like Orphan Receptors, Genetics, Animals, Humans, Paired Box Transcription Factors, Missense mutation, Transcription factor, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Homeodomain Proteins, Regulation of gene expression, Binding Sites, Genome, Human, Research, Gene Expression Profiling, fungi, Drosophila embryogenesis, Mesenchymal Stem Cells, Phenotype, Gene expression profiling, embryonic structures, Female, Chromatin immunoprecipitation, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8995c4a5b5a7d9392dad06ce30689ae2Test
https://doi.org/10.1101/gr.157610.113Test -
9
المؤلفون: Luitgard Graul-Neumann, Patrick Hundsdoerfer, Wencke Weber-Ferro, Karl Seeger, Sandra C. Doelken, Eva Klopocki
المصدر: American Journal of Medical Genetics Part A. 161:218-224
مصطلحات موضوعية: Male, Genotype, Locus (genetics), Genotype phenotype, Germany, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Child, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Anemia, Diamond-Blackfan, Hernia, Diaphragmatic, Chromosomes, Human, Pair 15, business.industry, Congenital diaphragmatic hernia, Gene deletion, Microarray Analysis, medicine.disease, Phenotype, Genetic Loci, Child, Preschool, Susceptibility locus, Chromosome Deletion, Hernias, Diaphragmatic, Congenital, business, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22d888dc3c6ab491f419f493f6d8acfTest
https://doi.org/10.1002/ajmg.a.35695Test -
10
المؤلفون: Sandra C. Doelken, Peter N. Robinson, Ana Rath, Sebastian Köhler, Ségolène Aymé
المصدر: Human Mutation. 33:1333-1339
مصطلحات موضوعية: Genetic Diseases, Inborn, Computational Biology, Information Storage and Retrieval, Disease classification, Neurogenetics, Computational biology, Reference Standards, Phenome, Biology, Bioinformatics, Phenotype, Open Biomedical Ontologies, Databases, Genetic, Human Phenotype Ontology, Genetics, Ontology, Cluster Analysis, Humans, Genetic Predisposition to Disease, Semantic representation, Genetic Testing, Nervous System Diseases, Software, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade76560b5bf0dabd86f72955f999ef6Test
https://doi.org/10.1002/humu.22112Test