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1رسالة جامعية
المؤلفون: Gregers, Jannie
مصطلحات موضوعية: Aneuploidy, B-Lymphocytes -- metabolism, CD4-Positive T-Lymphocytes -- metabolism, Chromosomes, Human, Pair 21 -- genetics, Membrane Transport Proteins -- genetics, Methotrexate -- blood, Precursor Cell Lymphoblastic Leukemia-Lymphoma -- genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma -- mortality, Precursor Cell Lymphoblastic Leukemia-Lymphoma -- therapy, Polymorphism, Genetic, Polymorphism, Single Nucleotide
Degree: Diss. (sammanfattning) Linköping : Linköpings universitet, 2012
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المؤلفون: M. Rutter, Diane Lucente, Colette Rossier, Stylianos E. Antonarakis, Roman Chrast, Mary Kay McCormick, Sonia Samec, Alan Buckler, Haiming Chen, D.K. Shea
المصدر: Karolinska Institutet
Human Molecular Genetics, Vol. 4, No 8 (1995) pp. 1305-1311
Scopus-Elsevierمصطلحات موضوعية: DNA, Complementary, Chromosomes, Human, Pair 21, Sequence analysis, Molecular Sequence Data, Down Syndrome/ genetics, Biology, Exon, Gene mapping, Genetics, Humans, ddc:576.5, Cloning, Molecular, Chromosomes, Artificial, Yeast, Molecular Biology, Gene, Genetics (clinical), DNA Primers, Southern blot, DNA Primers/genetics, Base Sequence, Gene map, Chromosome Mapping, DNA, Complementary/genetics, Exons, General Medicine, Cosmids, Chromosomes, Human, Pair 21/ genetics, Cosmid, Down Syndrome, Chromosome 21
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26f94991c2a5c444efba9237d81833c
http://doc.rero.ch/record/300824/files/4-8-1305.pdf -
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المؤلفون: Leila Parand, Lakshman Subrahmanyan, Corinne Gehrig, Maryline Gagnebin, Robert Lyle, Jacques Rougemont, Homa Attar, C. Victor Jongeneel, Stylianos E. Antonarakis, Samuel Deutsch, Emmanouil T. Dermitzakis
المصدر: Human Molecular Genetics, Vol. 14, No 23 (2005) pp. 3741-3749
مصطلحات موضوعية: Transcription, Genetic, Chromosomes, Human, Pair 21, Quantitative Trait Loci, Down-Regulation, Quantitative trait locus, Biology, Genetic linkage, Gene expression, Genetics, Humans, Lymphocytes, International HapMap Project, Molecular Biology, Gene, Genetics (clinical), ddc:616, Down-Regulation/ genetics, Gene Expression Profiling, Chromosome Mapping, Chromosome, General Medicine, Lymphocytes/metabolism, Chromosomes, Human, Pair 21/ genetics, Gene Expression Regulation, Expression quantitative trait loci, Chromosome 21
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ff763b0db8b19934ca04b945a02f5a
https://doi.org/10.1093/hmg/ddi404 -
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المؤلفون: Muriel T. Davisson, Yoram Groner, Melanie April Pritchard, L S Crnic, David Patterson, Katheleen Gardiner, William C. Mobley, Stylianos E. Antonarakis
المصدر: Cytogenetic and Genome Research, Vol. 108, No 4 (2005) pp. 269-277
مصطلحات موضوعية: Down syndrome, Biology, Bioinformatics, Mice, Synaptic Vesicles/genetics/metabolism, Reactive Oxygen Species/metabolism, Mitochondria/genetics/pathology, Genetics, medicine, Animals, Humans, Molecular Biology, Gene, Genetics (clinical), ddc:616, Leukemia/genetics, Intracellular Signaling Peptides and Proteins, Endocytosis/genetics, Calcineurin/antagonists & inhibitors, medicine.disease, Phenotype, Chromosomes, Human, Pair 21/ genetics, Disease Models, Animal, Genes, Amyloid beta-Protein Precursor/genetics/metabolism, Down Syndrome/complications/ genetics, Signal Transduction/genetics, Chromosome 21, Muscle Proteins/genetics/physiology
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المؤلفون: Ewan Birney, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis, Alexandre Reymond, Scott Schwarz, Ewen F. Kirkness
المصدر: Genome Research, Vol. 14, No 5 (2004) pp. 852-859
مصطلحات موضوعية: Chromosomes, Human, Pair 21, Environment, Biology, Genome, Introns/genetics, Evolution, Molecular, Mice, Exon, Dogs, Intergenic region, Sequence Homology, Nucleic Acid, Exons/genetics, Databases, Genetic, Genetics, Animals, Humans, Point Mutation, Genes/genetics, Point Mutation/genetics, Letters, Selection, Genetic, Gene, Conserved Sequence, Genetics (clinical), Sequence (medicine), ddc:616, Conserved Sequence/ genetics, Chromosome Mapping, Computational Biology, Genetic Variation, Chromosome, Exons, Computational Biology/methods, Introns, Chromosomes, Human, Pair 21/ genetics, DNA, Intergenic/ genetics, Genetic Variation/genetics, Genes, Evolutionary biology, DNA, Intergenic, Chromosome 21, Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc6ff4ca0d0327780e7286078d890e4
https://doi.org/10.1101/gr.1934904 -
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المؤلفون: Stylianos E. Antonarakis, C. Victor Jongeneel, Samuel Deutsch, Volker Flegel, Philipp Bucher, Nathalie Scamuffa, Brian Stevenson, Emmanouil T. Dermitzakis, Catherine Ucla, Robert Lyle, Alexandre Reymond
المصدر: Nature, Vol. 420, No 6915 (2002) pp. 578-582
مصطلحات موضوعية: RNA, Untranslated/genetics, Genomics, Computational biology, Biology, Synteny, Genome, Conserved sequence, Conserved non-coding sequence, Mice/ genetics, Animals, Humans, Genes/genetics, Oligonucleotide Array Sequence Analysis, Transcription, Genetic/genetics, ddc:616, Comparative genomics, Genetics, Multidisciplinary, Reverse Transcriptase Polymerase Chain Reaction, Conserved Sequence/ genetics, Computational Biology, Pseudogenes/genetics, Genome project, Regulatory Sequences, Nucleic Acid/genetics, Chromosomes, Human, Pair 21/ genetics, Rabbits, Chromosome 21, Sequence Alignment
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المؤلفون: Christian Iseli, Hamish S. Scott, Philipp Bucher, Stylianos E. Antonarakis, Samuel Deutsch
المصدر: Scopus-Elsevier
Genome Research, Vol. 11, No 2 (2001) pp. 300-307مصطلحات موضوعية: Databases, Factual, Chromosomes, Human, Pair 21, Molecular Sequence Data, Single-nucleotide polymorphism, Paralogous Gene, Biology, computer.software_genre, Polymorphism, Single Nucleotide, Chromosome (genetic algorithm), Genetics, Humans, SNP, Nucleotides/analysis, Gene, Genetics (clinical), Sequence (medicine), ddc:616, Base Composition, Multiple sequence alignment, Base Sequence, Database, Nucleotides, Chromosome Mapping, Genetic Variation, Reproducibility of Results, Sequence Analysis, DNA, Chromosome Mapping/ methods, Resources, Chromosomes, Human, Pair 21/ genetics, Genetic Variation/genetics, Sequence Analysis, DNA/methods, Chromosome 21, computer, Polymorphism, Single Nucleotide/ genetics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef006a2d394a2d3da77775074d876cd
https://doi.org/10.1101/gr.164901 -
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المؤلفون: Asher Berry, Stylianos E. Antonarakis, Shuichi Asakawa, Hamish S. Scott, Maria D. Lalioti, Joëlle Michaud, Batsheva Bonne-Tamir, Kazuhiko Kawasaki, Colette Rossier, Shinsei Minoshima, Nobuyoshi Shimizu, Kazunori Shibuya, Jun Kudoh
المصدر: Genomics, Vol. 68, No 1 (2000) pp. 71-79
مصطلحات موضوعية: Male, Repetitive Sequences, Amino Acid, Candidate gene, DNA, Complementary, Chromosomes, Human, Pair 21, RNA, Messenger/genetics/metabolism, Molecular Sequence Data, Gene Expression, Deafness, Biology, DNA, Complementary/chemistry/genetics/isolation & purification, Mice, Exon, GTP-Binding Proteins, Complementary DNA, Gene expression, Genetics, Animals, Humans, Coding region, Genes/genetics, Tissue Distribution, RNA, Messenger, Amino Acid Sequence, Gene, ddc:616, Polymorphism, Genetic, Base Sequence, Sequence Homology, Amino Acid, Alternative splicing, Gene Expression Regulation, Developmental, DNA, Exons, Sequence Analysis, DNA, Embryo, Mammalian, Introns, Chromosomes, Human, Pair 21/ genetics, Deafness/genetics, Embryo, Mammalian/metabolism, Alternative Splicing, Genes, DNA/chemistry/genetics, Mutation, RNA splicing, Female, GTP-Binding Proteins/ genetics
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المؤلفون: Fritz Mueller, Zeina Chamoun, Colette Rossier, Karin Brunschwig, Michel Guipponi, Zoubida Chettouh, Jean-Maurice Delabar, Nobuyoshi Shimizu, Kazunori Shibuya, Stylianos E. Antonarakis, Anne Lise Delezoide, Hamish S. Scott, Safia El Samadi, Jun Kudoh
المصدر: Genomics, Vol. 68, No 1 (2000) pp. 30-40
مصطلحات موضوعية: Male, Embryo, Nonmammalian, Chromosomes, Human, Pair 21, Vesicular Transport Proteins, Exon, Gene expression, Tissue Distribution, In Situ Hybridization, Caenorhabditis elegans, ddc:616, Genetics, biology, Gene Expression Regulation, Developmental, Exons, Membrane Proteins/ genetics, Embryo, Mammalian/metabolism, Female, Drosophila melanogaster, DNA, Complementary, RNA, Messenger/genetics/metabolism, Molecular Sequence Data, Body Patterning/drug effects/ genetics, DNA, Complementary/chemistry/genetics, Complementary DNA, Animals, Humans, Genes/genetics, RNA, Messenger, Amino Acid Sequence, Caenorhabditis elegans/drug effects/embryology/ genetics, Caenorhabditis elegans Proteins, Gene, Body Patterning, RNA, Double-Stranded, Base Sequence, Sequence Homology, Amino Acid, Membrane Proteins, Sequence Analysis, DNA, Embryo, Mammalian, Blotting, Northern, biology.organism_classification, Introns, Chromosomes, Human, Pair 21/ genetics, genomic DNA, Genes, RNA, Double-Stranded/administration & dosage, Chromosome 21, Embryo, Nonmammalian/drug effects/metabolism, Sequence Alignment
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المؤلفون: Kazunori Shibuya, Juha Ollila, Jun Kudoh, Ai Shintani, Maarit Heino, Nobuyoshi Shimizu, Mauno Vihinen, Hamish S. Scott, Pärt Peterson, Shinsei Minoshima, Ulla Aapola, Kai Krohn, Stylianos E. Antonarakis, Kazuhiko Kawasaki
المصدر: Genomics, Vol. 65, No 3 (2000) pp. 293-298
مصطلحات موضوعية: Models, Molecular, Protein family, Chromosomes, Human, Pair 21, Protein Conformation, Zinc Fingers/ genetics, Molecular Sequence Data, Sequence alignment, Biology, DNA Methyltransferase 3A, Mice, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Humans, Gene family, DNA (Cytosine-5-)-Methyltransferases, Amino Acid Sequence, Northern blot, DNA (Cytosine-5-)-Methyltransferase/chemistry/ genetics/metabolism, Peptide sequence, Gene, ATRX, 030304 developmental biology, ddc:616, Zinc finger, 0303 health sciences, Chromosome Mapping, Zinc Fingers, Molecular biology, Chromosomes, Human, Pair 21/ genetics, Protein Structure, Tertiary, 030220 oncology & carcinogenesis, Sequence Alignment