المؤلفون: Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges, Lawrence T. Reiter

المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Stem cells, Autism, Genomic disorders, Neurogenetic syndrome, mRNAseq, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13229-018-0191-yTest; https://doaj.org/toc/2040-2392Test

الوصول الحر: https://doaj.org/article/a05b1471620e4455bbdd728d00816017Test

المؤلفون: N.O. Maznyk, T.S. Sypko, V.P. Starenkyi, I.M. Hukova, S.V. Artiukh, L.V. Cherkasko

المصدر: Ukrainian Journal of Radiology and Oncology; Vol. 29 No. 4 (2021): Ukrainian Journal of Radiology and Oncology; 48-64
Український радіологічний та онкологічний журнал; Том 29 № 4 (2021): Український радіологічний та онкологічний журнал; 48-64

مصطلحات موضوعية: lymphocytes, Radiological and Ultrasound Technology, геномні порушення, аберації хромосом, external beam radiation therapy, Education, chromosome aberrations, Oncology, дистанційна променева терапія, reirradiation, Radiology, Nuclear Medicine and imaging, oncological patients, genomic disorders, онкологічні хворі, повторне опромінення, лімфоцити

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f229da83346825e0af26abaaab9aac3eTest
https://doi.org/10.46879/ukroj.4.2021.48-64Test

المؤلفون: Commission on Novel Technologies for Neurodevelopmental Copy Number Variants

المصدر: American journal of human genetics, vol 109, iss 8

مصطلحات موضوعية: DNA Copy Number Variations, systematic phenotyping, Intellectual and Developmental Disabilities (IDD), Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, iPSCs, Patient Advocacy, community engagement, infrastructure, Medical and Health Sciences, patient centered, team science, Genetics, Humans, genomic disorders, CNVs, Genetics & Heredity, neurological, Genome, neurodevelopment, Human Genome, Neurosciences, structural variants, Biological Sciences, Brain Disorders, biobank, Phenotype, copy-number variants, inclusion, Neurodevelopmental Disorders, patient led, long-read sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::cd8f9d889d382bba628948109c91d0b8Test
https://escholarship.org/uc/item/3tc3h13fTest

المؤلفون: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla

المصدر: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007Test
Seminars in Cell & Developmental Biology

مصطلحات موضوعية: 0301 basic medicine, Genome instability, Infertility, Rearrangements, DNA repair, DNA damage, Embryonic Development, Aneuploidy, Biology, DNA damage response, Genome, Article, Genomic Instability, 03 medical and health sciences, 0302 clinical medicine, Genome editing, medicine, Humans, Human oocytes and embryos, CNVs, Genetics, Genomic disorders, Cell Biology, medicine.disease, Germ Cells, 030104 developmental biology, Homologous recombination, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993ccc5178d17c191d6f8a25e2f2ca12Test
https://doi.org/10.1016/j.semcdb.2020.12.007Test

المؤلفون: Riegel, Mariluce

المصدر: Genetics and Molecular Biology. January 2014 37(1)

مصطلحات موضوعية: molecular cytogenetics, FISH, array-CGH, copy number variation, genomic disorders

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006Test

المؤلفون: Knight, Julian C., author

الإتاحة: https://doi.org/10.1093/acprof:oso/9780199227693.001.0001Test

المؤلفون: Mariluce Riegel

المصدر: Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 194-209 (2014)

مصطلحات موضوعية: molecular cytogenetics, FISH, array-CGH, copy number variation, genomic disorders, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/97c02cc172d64b8cbb54287b5316924dTest

المؤلفون: Vincent Timmerman, Alleene V. Strickland, Stephan Züchner

المصدر: Genes, Vol 5, Iss 1, Pp 13-32 (2014)

مصطلحات موضوعية: Charcot-Marie-Tooth, peripheral neuropathy, genomic disorders, gene discoveries, next generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/2073-4425/5/1/13Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/607c02c0548648b486809b4920608268Test

المؤلفون: Elena Caldana, Marianna Paulis, Takahiko Hara, Alessandra Castelli, Paolo Vezzoni, Stefano Mantero, Letizia Straniero, Lucia Sergi Sergi, Stefano Duga, Anna Villa, Lucia Susani, Teruhiko Suzuki, Dario Strina

المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, induced pluripotent stem cells, Chromosome Transfer, Genetic enhancement, chromosome transplantation, Biology, medicine.disease_cause, Article, chromosome transfer, Viral vector, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, lcsh:QH573-671, genomic disorders, Induced pluripotent stem cell, Molecular Biology, X chromosome, Mutation, lcsh:Cytology, Chromosome, Transplantation, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, Molecular Medicine, genetic therapy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b471f95de550c0d42cc86fcb06387b92Test
https://doi.org/10.1016/j.omtm.2020.01.003Test

المؤلفون: Walz, Katherina, Fonseca, Patricia, Lupski, James R.

المصدر: Genetics and Molecular Biology. January 2004 27(3)

مصطلحات موضوعية: genomic disorders, contiguous gene syndromes, microdeletion, microduplication

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300001Test