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1دورية أكاديمية
المؤلفون: Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin, John C. Means, Jeffrey Johnston, Tomi Pastinen, Scott T. Younger
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المؤلفون: Jeffrey J Johnston, Samantha N. Hartin, John C. Means, Scott T. Younger, Jasmine A. McQuerry, Tomi Pastinen, Merry Mclaird
مصطلحات موضوعية: Whole genome sequencing, Genome, Multidisciplinary, Whole Genome Sequencing, medicine.diagnostic_test, Genetic variants, Genomics, Computational biology, Biology, Functional interpretation, Undiagnosed Diseases, Rare Diseases, medicine, Humans, Identification (biology), Massively parallel, Genetic testing, Rare disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c29905c8d8c613f74ec986906d8c68d
https://doi.org/10.1101/2021.11.02.21265771 -
3دورية أكاديمية
المؤلفون: Samantha N Hartin, Martin L Hudson, Curtis Yingling, Brian D Ackley
المصدر: PLoS ONE, Vol 10, Iss 5, p e0121397 (2015)
وصف الملف: electronic resource
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المؤلفون: Carolyn Rogers, Michael Field, Samantha N. Hartin, Ling Ling, Emma Baker, David J. Amor, Jennie Slee, Minh Bui, Dinusha Gamage, David E. Godler, David Francis, Merlin G. Butler
المصدر: Translational Psychiatry
Translational Psychiatry, Vol 10, Iss 1, Pp 1-11 (2020)مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ubiquitin-Protein Ligases, Dup15q, Article, lcsh:RC321-571, Genomic Imprinting, 03 medical and health sciences, Cellular and Molecular Neuroscience, Chromosome 15, 0302 clinical medicine, Internal medicine, Angelman syndrome, Human behaviour, medicine, UBE3A, Humans, RNA, Small Nucleolar, Clinical genetics, Autistic Disorder, Imprinting (psychology), lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Chromosomes, Human, Pair 15, business.industry, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, Endocrinology, DNA methylation, Leukocytes, Mononuclear, Autism, Angelman Syndrome, Genomic imprinting, business, Prader-Willi Syndrome, Biomarkers, 030217 neurology & neurosurgery
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المؤلفون: Merlin G. Butler, Samantha N. Hartin, Waheeda A. Hossain, Shaquanna Brown, Ann M. Manzardo, Paula J. Fite
المصدر: J Aggress Maltreat Trauma
مصطلحات موضوعية: Aggression, education, 050901 criminology, 05 social sciences, Health Professions (miscellaneous), Article, Psychiatry and Mental health, Clinical Psychology, medicine, Habitus, 0501 psychology and cognitive sciences, 0509 other social sciences, Young adult, medicine.symptom, Psychology, 050104 developmental & child psychology, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462144a1925160c3e6962563a9ed3fb9
https://europepmc.org/articles/PMC7716722/ -
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المؤلفون: Virginia Kimonis, Ann M. Manzardo, Elisabeth M. Dykens, Jennifer L. Miller, Samantha N. Hartin, Merlin G. Butler, June-Anne Gold, Roy N. Tamura, Nicolette Weisensel, Waheeda A. Hossain, Soo Jeong Kim, Daniel J. Driscoll
المصدر: J Med Genet
مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Article, Cohort Studies, Loss of heterozygosity, Young Adult, 03 medical and health sciences, Chromosome 15, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Imprinting (psychology), Child, Genotyping, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, Pair 15, Infant, Middle Aged, medicine.disease, Obesity, 030104 developmental biology, Child, Preschool, Mutation, Cohort, Female, Chromosome Deletion, Genomic imprinting, Prader-Willi Syndrome, Cohort study
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المؤلفون: Samantha N. Hartin, Sangjucta Barkataki, David E. Godler, Waheeda A. Hossain, Merlin G. Butler, David Francis
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Microarray, Adolescent, Concordance, Genetic counseling, 030105 genetics & heredity, Biology, droplet digital PCR, 03 medical and health sciences, Chromosome 15, Genomic Imprinting, Exome Sequencing, Genetics, Humans, Digital polymerase chain reaction, Genetic Testing, Imprinting (psychology), Child, Prader–Willi syndrome (PWS), Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Chromosomes, Human, Pair 15, epimutation, Original Articles, 3. Good health, 030104 developmental biology, imprinting center, Child, Preschool, Female, Original Article, whole‐exome sequencing, microdeletion, Prader-Willi Syndrome, Gene Deletion
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المصدر: American journal of medical genetics. Part A. 176(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Chromosomal translocation, Locus (genetics), Short stature, Article, 03 medical and health sciences, Chromosome 15, Genomic Imprinting, Young Adult, 0302 clinical medicine, Genetics, Medicine, Humans, Imprinting (psychology), Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 15, business.industry, Siblings, nutritional and metabolic diseases, DNA Methylation, Hypotonia, nervous system diseases, 030104 developmental biology, Phenotype, Female, medicine.symptom, Chromosome Deletion, business, Genomic imprinting, Nucleic Acid Amplification Techniques, Prader-Willi Syndrome, 030217 neurology & neurosurgery, SNRPN Gene
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المؤلفون: Samantha N. Hartin, Martin L. Hudson, Curtis Yingling, Brian D. Ackley
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 5, p e0121397 (2015)مصطلحات موضوعية: animal structures, Embryo, Nonmammalian, Genotype, Green Fluorescent Proteins, Library science, lcsh:Medicine, Embryonic Development, Penetrance, Biology, Ligands, 03 medical and health sciences, 0302 clinical medicine, Animals, Genetic Testing, lcsh:Science, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Genes, Helminth, 030304 developmental biology, Glycoproteins, Genetics, 0303 health sciences, Multidisciplinary, Institutional development, lcsh:R, Gastrulation, Wnt signaling pathway, Phenotype, Larva, Mutation, lcsh:Q, RNA Interference, Epidermis, Cell Adhesion Molecules, 030217 neurology & neurosurgery, Research Article