المؤلفون: Yilmaz, Feyza

المصدر: Genome medicine; vol 15, iss 1, 35; 1756-994X

مصطلحات الفهرس: Humans, Syndrome, Chromosome Mapping, Genomics, Haplotypes, DNA Copy Number Variations, Segmental Duplications, Genomic, 3q29, Copy number variant(s), Genomic disorders, NAHR, Schizophrenia, Structural variations, Human Genome, Genetics, 2.1 Biological and endogenous factors, Aetiology, Clinical Sciences, article

URL: https://escholarship.org/uc/item/6cv3233cTest
https://escholarship.orgTest/

المصدر: PLoS One, vol. 8, iss. 8, pp. e71199

مصطلحات الفهرس: DCN NN - Brain networks and neuronal communication, DCN PAC - Perception action and control IGMD 4: Glycostation disorders, IGMD 3: Genomic disorders and inherited multi-system disorders, IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 4: Energy and redox metabolism, IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism, IGMD 9: Renal disorder, IGMD 9: Renal disorder NCMLS 4: Energy and redox metabolism, IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motility, NCMLS 5: Membrane transport and intracellular motility IGMD 9: Renal disorder, Article / Letter to editor

URL: http://repository.ubn.ru.nl/bitstream/handle/2066/142823/142823.pdfTest
http://hdl.handle.net/2066/142823Test

المؤلفون: Commission on Novel Technologies for Neurodevelopmental Copy Number Variants

المصدر: American journal of human genetics; vol 109, iss 8, 1353-1365; 0002-9297

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

URL: https://escholarship.org/uc/item/3tc3h13fTest
https://escholarship.orgTest/

المؤلفون: Mostovoy, Yulia

المصدر: Genetics; vol 217, iss 2, iyaa038; 0016-6731

مصطلحات الفهرس: Chromosomes, Human, Pair 15, Pair 16, Humans, Craniofacial Abnormalities, Seizures, Williams Syndrome, Heart Defects, Congenital, Chromosome Disorders, Chromosome Deletion, Mental Disorders, Developmental Disabilities, Chromosome Breakpoints, Genomic Structural Variation, Segmental Duplications, Genomic, Intellectual Disability, genome mapping, genomic disorders, segmental duplications, structural variation, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Developmental Biology, article

URL: https://escholarship.org/uc/item/15562671Test
https://escholarship.orgTest/

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 .

مصطلحات الفهرس: Aneuploidy, CNVs, DNA damage response, Genome instability, Genomic disorders, Human oocytes and embryos, Rearrangements, article

URL: https://curis.ku.dk/portal/da/publications/genome-diversity-and-instability-in-human-germ-cells-and-preimplantation-embryosTest(e117f602-ffe4-442b-b1b2-bf943d548cb1).html
https://doi.org/10.1016/j.semcdb.2020.12.007Test
https://curis.ku.dk/ws/files/260298129/1_s2.0_S1084952120302019_main.pdfTest

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 .

مصطلحات الفهرس: Aneuploidy, CNVs, DNA damage response, Genome instability, Genomic disorders, Human oocytes and embryos, Rearrangements, article

URL: https://curis.ku.dk/portal/da/publications/genome-diversity-and-instability-in-human-germ-cells-and-preimplantation-embryosTest(e117f602-ffe4-442b-b1b2-bf943d548cb1).html
https://doi.org/10.1016/j.semcdb.2020.12.007Test
https://curis.ku.dk/ws/files/260298129/1_s2.0_S1084952120302019_main.pdfTest

المصدر: 26485770

مصطلحات الفهرس: cell therapy, chromosome transplantation, embryonic stem cells, genomic disorders, microcell fusion, BIO/11 - Biologia Molecolare, Genetic engineering, transgenic organisms, recombinant proteins, biosensors, Articolo su rivista scientifica / specializzata

URL: http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=6143&path%5B%5D=15301Test
http://hdl.handle.net/10807/69791Test
ONCOTARGET
1949-2553
6
34
35218
35230
13
2015

مصطلحات الفهرس: cell therapy, chromosome transplantation, embryonic stem cells, genomic disorders, microcell fusion, Settore BIO/11 - BIOLOGIA MOLECOLARE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/69791Test
http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=6143&path%5B%5D=15301Test
info:eu-repo/semantics/altIdentifier/pmid/26485770
info:eu-repo/semantics/altIdentifier/wos/WOS:000366111900019
volume:6
issue:34
firstpage:35218
lastpage:35230
numberofpages:13
issueyear:2015
journal:ONCOTARGET