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1دورية أكاديمية
المصدر: Molecular Genetics and Genomic Medicine. 7(2)
مصطلحات موضوعية: STAG2, X-linked gene, clinical exome sequencing, cohesin complex, cohesin-associated genes, cohesinopathies, human growth, neurodevelopment, reanalysis, Antigens, Nuclear, Cell Cycle Proteins, Child, Preschool, Developmental Disabilities, Genetic Diseases, X-Linked, Growth Disorders, Humans, Male, Mutation, Missense, Phenotype, Polydactyly, Syndrome
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/759783h7Test
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المؤلفون: Francesca M. Pisani, Mohammad Mahtab, Diana Santos, Ana Boavida
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 2308, p 2308 (2021)
International Journal of Molecular Sciencesمصطلحات موضوعية: DDX11, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Review, CHL1, DEAD-box RNA Helicases, lcsh:Chemistry, 0302 clinical medicine, Chromosome Segregation, lcsh:QH301-705.5, Phylogeny, Spectroscopy, Genetics, 0303 health sciences, biology, Cell Cycle, General Medicine, Chromatin, 3. Good health, Computer Science Applications, sister chromatid cohesion, Establishment of sister chromatid cohesion, Cohesin complex, DNA helicase, Chromatids, DNA replication, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Rare Diseases, cohesinopathies, Animals, Humans, Abnormalities, Multiple, Physical and Theoretical Chemistry, Molecular Biology, Gene, 030304 developmental biology, Cohesin, Organic Chemistry, DNA Helicases, Helicase, G-quadruplexes, Gene Expression Regulation, lcsh:Biology (General), lcsh:QD1-999, Mutation, biology.protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae069ff8ffdff5dbded9d8946a66f2bTest
https://www.mdpi.com/1422-0067/22/5/2308Test -
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المؤلفون: Sureni V. Mullegama, Eric Vilain, Steven D Klein, Julian A. Martinez-Agosto, Rebecca Signer
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, Cohesin complex, STAG2, DNA repair, Developmental Disabilities, cohesin‐associated genes, reanalysis, X‐linked gene, Mutation, Missense, Cell Cycle Proteins, 030105 genetics & heredity, SMC1A, Biology, Short stature, Clinical Reports, 03 medical and health sciences, cohesinopathies, Genetics, medicine, Humans, Missense mutation, Molecular Biology, human growth, Growth Disorders, Genetics (clinical), Exome sequencing, Clinical Report, cohesin complex, neurodevelopment, clinical exome sequencing, Antigens, Nuclear, Genetic Diseases, X-Linked, Syndrome, Phenotype, Establishment of sister chromatid cohesion, Polydactyly, 030104 developmental biology, Child, Preschool, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028860ff8b30b0c0cb35becaddf0b81cTest
https://doi.org/10.1002/mgg3.501Test -
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المؤلفون: Jennifer L. Gerton
المصدر: Nucleus
مصطلحات موضوعية: Cohesin complex, Chromosomal Proteins, Non-Histone, Ectromelia, Ribosome biogenesis, cohesin, translation, Cell Cycle Proteins, Biology, Chromosomes, Chromosome segregation, Craniofacial Abnormalities, Transcription (biology), Acetyltransferases, Chromosome Segregation, De Lange Syndrome, Gene expression, cohesinopathies, Humans, nucleolus, Enhancer, Genetics, Cohesin, Hypertelorism, Extra View, Promoter, Cell Biology, ribosome, Chondroitin Sulfate Proteoglycans, Protein Biosynthesis, Mutation, biological phenomena, cell phenomena, and immunity, Ribosomes, Cell Nucleolus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b4466a6c0bd3471f157bfea3064c92Test
http://europepmc.org/articles/PMC3515535Test -
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المؤلفون: José Luis Barbero
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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The Application of Clinical Geneticsمصطلحات موضوعية: Cell division, Cohesin complex, Gene expression, cohesin, Review, Biology, Chromosome segregation, chemistry.chemical_compound, Roberts syndrome, Control, Genetics, Sister chromatids, Cohesinopathies, Insulators, Gene, Cohesins, Genetics (clinical), Loss function, Cohesin, Cornelia de Lange syndrome, chemistry, gene expression, insulators, biological phenomena, cell phenomena, and immunity, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::903203f70c3264761aad3f881bf69d22Test
http://hdl.handle.net/10261/94137Test