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1
المؤلفون: Adam Bogdan, Magnus Nordenskjöld, Jan Komorowski, Carl E.G. Bruder, Teresita Díaz de Ståhl, Meena Upadhyaya, Jan P. Dumanski, Ann-Charlotte Thuresson, Amir I. Elshafie, Gehad ElGhazali, Stephan Imreh, Desiree von Tell, Caisa M. Hansson, Robin Andersson, Helena Nord, Johanna Sandgren, Uwe Menzel, Andrzej Poplawski, Arkadiusz Piotrowski
المصدر: Human Mutation. 29:398-408
مصطلحات موضوعية: Male, Chromosomes, Artificial, Bacterial, Population, Gene Dosage, Black People, Biology, Genome, White People, Asian People, Gene Duplication, Genetics, Humans, Copy-number variation, education, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Segmental duplication, Gene Rearrangement, Chromosomes, Human, X, education.field_of_study, Genome, Human, Racial Groups, Genetic Variation, Gene rearrangement, Markov Chains, Human genetics, Female, Human genome, Algorithms, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7595a483ad5e6761c04213c6b6cc47b0Test
https://doi.org/10.1002/humu.20659Test -
2
المؤلفون: Annika Armulik, Desiree von Tell, Christer Betsholtz
المصدر: Experimental Cell Research. 312:623-629
مصطلحات موضوعية: Endothelium, Cell Biology, Matrix (biology), Biology, Cell function, Cell biology, Fibroblast Growth Factors, medicine.anatomical_structure, Cell culture, Cell Line, Tumor, medicine, Animals, Blood Vessels, Humans, Endothelium, Vascular, Pericyte, Pericytes, Intracellular, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::640db6b57c8b7385b257690ad6a88da7Test
https://doi.org/10.1016/j.yexcr.2005.10.019Test -
3
المؤلفون: Desiree von Tell, Maria Anvret, Louise V. B. Anderson, Gabrielle Åhlberg, Carl E.G. Bruder
المصدر: Neurogenetics. 4:173-177
مصطلحات موضوعية: Genetic Markers, Male, Candidate gene, Genetic Linkage, Blotting, Western, Muscle Proteins, Locus (genetics), Biology, Dysferlin, Cellular and Molecular Neuroscience, Muscular Diseases, Gene mapping, Genetic linkage, Genetics, medicine, Humans, Myopathy, Genetics (clinical), Haplotype, Chromosome Mapping, Membrane Proteins, Telomere, Pedigree, Haplotypes, Chromosomes, Human, Pair 2, Distal Myopathies, biology.protein, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43293ea7d53ff2b28dcd7a30da319edTest
https://doi.org/10.1007/s10048-003-0154-zTest -
4
المؤلفون: Carl E.G. Bruder, Andrzej Poplawski, E. Christopher Partridge, Rafal Bartoszewski, Maciej Krzyżanowski, Chiquito J. Crasto, Zsuzsa Bebok, Zbigniew Jankowski, Uwe Menzel, Robin Andersson, Jan Komorowski, Johanna Sandgren, Teresita Díaz de Ståhl, Adam Bogdan, Jan P. Dumanski, Desiree von Tell, Arkadiusz Piotrowski
المصدر: Human mutation. 29(9)
مصطلحات موضوعية: Genetics, Adult, Polymorphism, Genetic, Somatic cell, Genetic heterogeneity, Mosaicism, Gene Dosage, Single-nucleotide polymorphism, Genomics, Biology, Germline, Structural variation, Organ Specificity, mental disorders, Genetic variation, Chromosomes, Human, Humans, Genetic Predisposition to Disease, Tissue Distribution, Copy-number variation, Genetics (clinical), Segmental duplication, Oligonucleotide Array Sequence Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94826aee0a4c4f5f8e28cd426620cc27Test
https://pubmed.ncbi.nlm.nih.gov/18570184Test -
5
المؤلفون: Michael J. Crowley, E. Christopher Partridge, Dorret I. Boomsma, Teresita Díaz de Ståhl, Antoinet C.J. Gijsbers, Uwe Menzel, Carl E.G. Bruder, Andrzej Poplawski, Robin Andersson, Gert-Jan B. van Ommen, Karin Wirdefeldt, Stephen W. Erickson, Jan Komorowski, Chiquito J. Crasto, Johan T. den Dunnen, Nancy L. Pedersen, David B. Allison, Johanna Sandgren, Desiree von Tell, Jan P. Dumanski, Hemant K. Tiwari, Arkadiusz Piotrowski
المساهمون: Biological Psychology
المصدر: American Journal of Human Genetics, 82(3), 763-771. Cell Press
Bruder, C E G, Piotrowski, A, Gijsbers, A A C J, Anderson, R, Erickson, S, Diaz de Stahl, T, Menzel, U, Sandgren, J, von Tell, D, Poplawski, A, Crowley, M, Crasto, C, Partridge, E C, Tiwari, H, Allison, D B, Komorowski, J, van Ommen, G J B, Boomsma, D I, Pedersen, N L, den Dunnen, J T, Wirdefeldt, K & Dumanski, J P 2008, ' Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. ', American Journal of Human Genetics, vol. 82, no. 3, pp. 763-771 . https://doi.org/10.1016/j.ajhg.2007.12.011Testمصطلحات موضوعية: Male, Netherlands Twin Register (NTR), Concordance, Monozygotic twin, Biology, 03 medical and health sciences, 0302 clinical medicine, Report, Genotype, Genetic variation, Genetics, Chromosomes, Human, Humans, Genetics(clinical), Genetic variability, Genetics (clinical), 030304 developmental biology, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Genetic Variation, Neurodegenerative Diseases, DNA, Twins, Monozygotic, Twin study, Phenotype, Human genetics, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c442e17aab1cb31320e3f2a5ea72df1Test
https://research.vu.nl/en/publications/d32b3502-8c41-49e1-9a20-cea0509d4808Test -
6
المؤلفون: Desiree von Tell, Marie-Louise Molander, Agneta Nordenskjöld, Pär-Johan Svensson, Maria Anvret
المصدر: Karolinska Institutet
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Constipation, SOX10, Mutation, Missense, Biology, medicine.disease_cause, Frameshift mutation, Exon, medicine, Humans, Amino Acid Sequence, Hirschsprung Disease, education, Frameshift Mutation, Gene, Hirschsprung's disease, Retrospective Studies, Genetics, Sweden, education.field_of_study, Mutation, Endothelin-3, Base Sequence, Genetic Carrier Screening, Incidence, Exons, medicine.disease, Endothelin 3, Pediatrics, Perinatology and Child Health, Codon, Terminator, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eafc72119239f2070bd2c15554d6b687Test
https://pubmed.ncbi.nlm.nih.gov/10231870Test -
7دورية أكاديمية
المؤلفون: Carl E. G. Bruder, Arkadiusz Piotrowski, Antoinet A. C. J. Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz De Sta˚hl, Uwe Menzel, Johanna S, Desiree Von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E. Christopher Partridge, Hemant Tiwari, David B. Allison, Jan Komorowski, Gert-jan B. Van Ommen, Dorret I. Boomsma, Nancy L. Pedersen, Johan T. Den Dunnen, Karin Wirdefeldt, Jan P. Dumanski
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
