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1دورية أكاديمية
المؤلفون: Nika Rihar, Danijela Krgovic, Nadja Kokalj-Vokač, Spela Stangler-Herodez, Minja Zorc, Peter Dovc
المصدر: PLoS ONE, Vol 18, Iss 5, p e0273957 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Danijela Krgovic, Mario Gorenjak, Nika Rihar, Iva Opalic, Spela Stangler Herodez, Hojka Gregoric Kumperscak, Peter Dovc, Nadja Kokalj Vokac
المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)
مصطلحات موضوعية: reverse phenotyping, single event variants, NDD-associated genes, GRIA1 gene, NR4A2 gene, SIN3B gene, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hojka Gregoric Kumperscak, Danijela Krgovic, Maja Drobnic Radobuljac, Nina Senica, Andreja Zagorac, Nadja Kokalj Vokac
المصدر: Frontiers in Psychiatry, Vol 11 (2021)
مصطلحات موضوعية: early onset, schizophrenia, bipolar disorder, copy number variations, chromosomal aneuploidy, Psychiatry, RC435-571
وصف الملف: electronic resource
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4
المؤلفون: N Marčun Varda, Kokalj Vokač N, Danijela Krgovic, Š Stangler Herodež
المصدر: Balkan Journal of Medical Genetics, Vol 23, Iss 1, Pp 83-90 (2020)
Balkan Journal of Medical Genetics : BJMGمصطلحات موضوعية: 0301 basic medicine, Proband, Microcephaly, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heart malformation, Case Report, 030105 genetics & heredity, QH426-470, kabuki syndrome (ks), next generation sequencing (ngs) analysis, Frameshift mutation, kmtd2 gene, 03 medical and health sciences, Exon, Genetics, Medicine, Genetics (clinical), Muscular hypotonia, business.industry, congenital heart anomalies (chas), medicine.disease, 030104 developmental biology, business, Kabuki syndrome, Mild microcephaly
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5
المؤلفون: Yajuan Liu, Allen N. Lamb, Jeanne Meck, Zoe K Lewis, Jennifer N. Sanmann, Linda Haglund-Hazy, Brian Bunke, Denae M. Golden, Christin D. Collins, Marwan K. Tayeh, Erica F. Andersen, Cassandra K. Runke, Dimitri J. Stavropoulos, Whitney Neufeld-Kaiser, Emma Strong, Guang Li, Yao Shan Fan, Meng Su, Andrew Merz, McKinsey L. Goodenberger, Tristan Nelson, Todd Ackley, Christa Lese Martin, Erik C. Thorland, Danijela Krgovic, Erin Rooney Riggs, Morag N. Collinson, Nadja Kokalj Vokac
المصدر: Hum Mutat
مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Genome, Human, Genetic Variation, Subject (documents), Computational biology, Biology, Genome, Patient care, Article, 03 medical and health sciences, 030104 developmental biology, Databases, Genetic, Genetics, Humans, Copy-number variation, Haploinsufficiency, Genetics (clinical), Likely pathogenic, Data Curation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472f4808747a9db5a43076253ef88a52
https://europepmc.org/articles/PMC7374944/ -
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المصدر: The Journal of International Medical Research
مصطلحات موضوعية: Adult, 0301 basic medicine, Hysteria, Chromosome Breakpoints, Case Report, 030105 genetics & heredity, Biology, Biochemistry, Myosin Type I, 03 medical and health sciences, Glutaminase, Intellectual Disability, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Cognitive Dysfunction, Cognitive decline, Gene, Genetics, Biochemistry (medical), Breakpoint, SATB2 gene, Membrane Proteins, Karyotype, Matrix Attachment Region Binding Proteins, Cell Biology, General Medicine, Microdeletion syndrome, secondary cognitive decline, medicine.disease, Phenotype, Phosphoric Monoester Hydrolases, Neoplasm Proteins, developmental delay, Aggression, 030104 developmental biology, Chromosomes, Human, Pair 2, Karyotyping, 2q32q33 microdeletion syndrome, Female, Chromosome Deletion, behavioural problems, Self-Injurious Behavior, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc4efc0c5b816c92d4a8b1d1ec12f88
https://doi.org/10.1177/0300060515595651 -
7
المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-7 (2018)مصطلحات موضوعية: 0301 basic medicine, Proband, Male, DNA Copy Number Variations, Mood swing, lcsh:Medicine, Bioinformatics, Article, 03 medical and health sciences, Cognition, Gene duplication, mental disorders, Medicine, Guanine Nucleotide Exchange Factors, Humans, Clinical significance, Copy-number variation, lcsh:Science, Child, Gene, Multidisciplinary, business.industry, Communication, lcsh:R, Aggression, 030104 developmental biology, Phenotype, Neurodevelopmental Disorders, Cohort, lcsh:Q, Female, medicine.symptom, Dock8, business, Gene Deletion
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8
المؤلفون: Špela Stangler Herodež, Danijela Krgovic, Boris Zagradišnik, Andreja Zagorac, Bogdan Ćižmarević, Nadja Kokalj Vokac
المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, lcsh:QH426-470, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Copy number variations, Copy-number variation, Head and neck cancer, Molecular Biology, Lymph node, Genetics (clinical), Research, Biochemistry (medical), Cytogenetics, Cancer, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Chromosome 3, Array comparative genomic hybridization, 030220 oncology & carcinogenesis, Molecular Medicine, Biomarkers, Comparative genomic hybridization
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9دورية أكاديمية
المصدر: Genes, Vol 15, Iss 1, p 72 (2024)
مصطلحات موضوعية: malignant cardiac arrhythmias, sudden death, non-ischemic cardiomyopathy, next-generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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10
المؤلفون: N Kokalj Vokač, Nataša Tul, Danijela Krgovic, F Mujezinović, Tč Golec, TV Vipotnik, Boris Zagradišnik, A Blatnik
المصدر: Clinical Genetics. 90:99-101
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Fetus, Obstetrics, business.industry, Prenatal diagnosis, Simpson–Golabi–Behmel syndrome, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, business, Genetics (clinical)