المؤلفون: Griffin, Nicole G, Cronin, Kenneth D, Walley, Nicole M, Hulette, Christine M, Grant, Gerald A, Mikati, Mohamad A, LaBreche, Heather G, Rehder, Catherine W, Allen, Andrew S, Crino, Peter B, Heinzen, Erin L

مصطلحات موضوعية: Brain, Chromosomes, Human, Pair 16, Humans, Uniparental Disomy, DNA, DNA Methylation, Genomic Imprinting, Genotype, Alleles, Child, Preschool, Infant, Female, Hemimegalencephaly

وصف الملف: application/pdf

العلاقة: Cold Spring Harbor molecular case studies; mcs.a001735; https://hdl.handle.net/10161/25902Test

الإتاحة: https://hdl.handle.net/10161/25902Test

المؤلفون: Alysson R. Muotri, John R. Yates, Leon Tejwani, Jorge Urresti, Jonathan Sebat, Cleber A. Trujillo, Megha Amar, Nam-Kyung Yu, Sarah Romero, Priscilla D. Negraes, Kevin Chau, Patricia Moran-Losada, Danny Antaki, Jolene K. Diedrich, Akula Bala Pramod, Lilia M. Iakoucheva, Pan Zhang

المصدر: Mol Psychiatry
Molecular psychiatry, vol 26, iss 12

مصطلحات موضوعية: Proteomics, Microcephaly, RHOA, Autism Spectrum Disorder, Autism, Medical and Health Sciences, Synapse, Gene duplication, Copy-number variation, Pediatric, Psychiatry, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Neurogenesis, Wnt signaling pathway, Brain, Biological Sciences, Phenotype, Cell biology, Organoids, Psychiatry and Mental health, Mental Health, medicine.anatomical_structure, Neurological, Stem Cell Research - Nonembryonic - Non-Human, Chromosome Deletion, Human, Neurite, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, Biology, Chromosomes, Article, Cellular and Molecular Neuroscience, Underpinning research, Organoid, medicine, Humans, Autistic Disorder, Molecular Biology, Stem Cell Research - Induced Pluripotent Stem Cell, Pair 16, Psychology and Cognitive Sciences, Neurosciences, Actin cytoskeleton, Stem Cell Research, medicine.disease, Brain Disorders, biology.protein, Neuron, Neuroscience, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e19946d1bdbf53d52cff1468a5481aTest
https://doi.org/10.1101/2020.06.25.172262Test

المؤلفون: Zhang, Chaolin, Shen, Yufeng

مصطلحات موضوعية: Male, Cell type, DNA Copy Number Variations, DNA Mutational Analysis, Haploinsufficiency, Disease, Biology, Medium spiny neuron, Sensitivity and Specificity, Article, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Autistic Disorder, Gene, Genetic Association Studies, 030304 developmental biology, Genetics, 0303 health sciences, Genetic heterogeneity, Gene Expression Profiling, Computational Biology, medicine.disease, Organ Specificity, Mutation, Autism, Female, Human genome, Transcriptome, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba617438d6c246c30f1690c5678828e7Test
https://doi.org/10.1101/058826Test

المؤلفون: Deborah A. Nickerson, Neil Shafer, Erik C. Thorland, Cindy Skinner, Gregory M. Cooper, Charles E. Schwartz, Heather C Mefford, Joshua D. Smith, Troy Zerr, Carl Baker, Evan E. Eichler

المصدر: Genome Research. 19:1579-1585

مصطلحات موضوعية: Time Factors, Genotype, Gene Dosage, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Gene Duplication, Intellectual Disability, Angelman syndrome, Intellectual disability, Methods, Genetics, medicine, Humans, Autistic Disorder, Child, Genotyping, Genetics (clinical), Genetic association, Chromosomes, Human, Pair 15, Genome, Human, Computational Biology, Genetic Variation, medicine.disease, Human genetics, SNP genotyping, Autism, Cognition Disorders, Prader-Willi Syndrome, Algorithms, Chromosomes, Human, Pair 16, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cfb0da6a2dd20c34614c3d354deae55Test
https://doi.org/10.1101/gr.094987.109Test

المؤلفون: Malak Shoukry, Francis Poulin, Olivier Couronne, Len A. Pennacchio, Shyam Prabhakar, Veena Afzal, Edward M. Rubin

المصدر: Prabhakar, Shyam; Poulin, Francis; Shoukry, Malak; Afzal, Veena; Rubin, Edward M.; Couronne, Olivier; et al.(2005). Close Sequence Comparisons are Sufficient to Identify Human cis-Regulatory Elements. Lawrence Berkeley National Laboratory. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/0zj6n800Test

مصطلحات موضوعية: Letter, Mice, Transgenic, Computational biology, Regulatory Sequences, Nucleic Acid, Biology, Comparative genomics transcriptional enhancer cis-regulatory conserved noncoding sequence, Sensitivity and Specificity, Genome, DNA sequencing, Conserved sequence, Evolution, Molecular, Mice, chemistry.chemical_compound, Predictive Value of Tests, Genetics, Animals, Humans, Eye Proteins, Enhancer, Transcription factor, Conserved Sequence, Genetics (clinical), Sequence (medicine), Base Sequence, Genome, Human, Life Sciences, Computational Biology, DNA, Sequence Analysis, DNA, Protein Structure, Tertiary, Rats, Enhancer Elements, Genetic, chemistry, Human genome, Chromosomes, Human, Pair 16, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0250bb737e98efe3deda26b60ea21bcTest
https://doi.org/10.1101/gr.4717506Test

المؤلفون: Kenneth D. Cronin, Gerald A. Grant, Nicole M. Walley, Andrew S. Allen, Erin L. Heinzen, Christine M. Hulette, Peter B. Crino, Mohamad A. Mikati, Nicole G. Griffin, Catherine Rehder, Heather G. LaBreche

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Research Report, 0301 basic medicine, Genotype, Somatic cell, Buccal swab, Locus (genetics), Biology, Chromosomes, Genomic Imprinting, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, medicine, pachygyria, Humans, Alleles, Brain, Infant, Chromosome, hemimegalencephaly, DNA, General Medicine, DNA Methylation, Uniparental Disomy, medicine.disease, Molecular biology, Uniparental disomy, 030104 developmental biology, Child, Preschool, DNA methylation, Female, Genomic imprinting, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321a06371eee556959ba603ddefdfb76Test
https://doi.org/10.1101/mcs.a001735Test

المؤلفون: Phillip B. Jewett, Robert D. Sutherland, Judy G. Tesmer, Norman A. Doggett, Linda Meincke, Mark Mundt, John J. Fawcett, Larry L. Deaven, Ung-Jin Kim, Cliff Han, Mary L. Campbell

المصدر: Genome Research. 10:714-721

مصطلحات موضوعية: Resource, Genetics, Contig, Restriction Mapping, Breakpoint, Nucleic Acid Hybridization, Reproducibility of Results, Chromosomes, Bacterial, Biology, Contig Mapping, Sequence-tagged site, Chromosome 16, Restriction map, Chromosome (genetic algorithm), Cosmid, Humans, Chromosomes, Human, Pair 16, Genetics (clinical), Sequence Tagged Sites

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8971b342964a70bf7802401ac39eb045Test
https://doi.org/10.1101/gr.10.5.714Test

المؤلفون: M. Lombard, Bernard Dutrillaux, Florence Richard

المصدر: Genome Research. 10:644-651

مصطلحات موضوعية: Letter, Placenta, Evolution, Molecular, Pregnancy, Phylogenetics, Sequence Homology, Nucleic Acid, Centromere, Genetics, Animals, Chromosomes, Human, Humans, Phylogeny, Genetics (clinical), Marsupial, Mammals, Chromosome 7 (human), biology, Phylogenetic tree, Chromosome, Karyotype, biology.organism_classification, Scandentia, Female, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2963f33eeb9cc14337146d1b71c3fd36Test
https://doi.org/10.1101/gr.10.5.644Test

المؤلفون: Mariano Rocchi, Evan E. Eichler, Nicoletta Archidiacono

المصدر: Genome Research. 9:1048-1058

مصطلحات موضوعية: X Chromosome, Chromosomes, Human, Pair 22, Centromere, Molecular Sequence Data, Evolutionary change, Sequence alignment, Biology, Genome, Evolution, Molecular, Gene Duplication, Gene duplication, Genetics, Animals, Humans, Direct repeat, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Sequence (medicine), Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 15, Base Sequence, Chromosomes, Human, Pair 10, Hominidae, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 9, Sequence Alignment, Chromosomes, Human, Pair 16, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fb997827a7e7a390cf65956cd0dae8Test
https://doi.org/10.1101/gr.9.11.1048Test

المؤلفون: Christa M. Lese, David H. Ledbetter, Harold Riethman, Judy A. Fantes

المصدر: Genome Research. 9:888-894

مصطلحات موضوعية: Resource, clone (Java method), Genetics, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 12, Databases, Factual, Chromosome Mapping, Chromosome, Chromosomes, Bacterial, Telomere, Biology, First generation, Gene mapping, Evolutionary biology, Humans, Human genome, Physical mapping, Genomic library, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16, In Situ Hybridization, Fluorescence, Genetics (clinical), Gene Library

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f389e299aceb70c9a87c914376f2693Test
https://doi.org/10.1101/gr.9.9.888Test