المؤلفون: Spataro, Nino

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Bosch Fusté, Elena

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Mendelian disorders, Complex diseases, Parkinson's disease, Malalties complexes, Malaltia de Parkinson, Mètodes de col.lapse, Copy number variation (CNVs), Malalties mendelianes, Collapsing methods, Variació en el número de còpies

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/482220Test

المؤلفون: Lo Giacco, Deborah Grazia

المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia

مرشدي الرسالة: Ars Criach, Elisabet, Krausz, Csilla, Nogués Sanmiquel, Carme

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: CNVs, SNPs, Infertilidad, Ciències de la Salut

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/129093Test

المؤلفون: Schmitz, Daniel, 1995

المساهمون: Johansson, Åsa, Lappalainen, Tuuli, Professor

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: GWAS, NGS, long-read sequencing, mendelian randomization, WGS, CNVs

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-517196Test
https://uu-se.zoom.us/j/66605810809Test
https://uu.diva-portal.org/smash/get/diva2:1817383/FULLTEXT01.pdfTest
https://uu.diva-portal.org/smash/get/diva2:1817383/PREVIEW01.jpgTest

المؤلفون: Athoi Ganguly, Shaheena Amin, Al-Amin, Farhana Tasnim Chowdhury, Haseena Khan, Mohammad Riazul Islam

المصدر: Journal of Genetic Engineering and Biotechnology, Vol 22, Iss 2, Pp 100376- (2024)

مصطلحات موضوعية: Corchorus olitorius accession no. 2015 (acc. 2015), Corchorus olitorius var. O9897, Single Nucleotide Polymorphisms (SNPs), Insertion Deletions (InDels), Copy Number Variations (CNVs), Gene Ontology (GO), Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1687157X24000799Test; https://doaj.org/toc/1687-157XTest

الوصول الحر: https://doaj.org/article/48b12dedad60410186c4940c3c419a94Test

المؤلفون: Fagui Yue, Xiao Yang, Ning Liu, Ruizhi Liu, Hongguo Zhang

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: fetal ventriculomegaly, chromosomal microarray analysis, prenatal diagnosis, pregnancy outcomes, hotspot CNVs, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2024.1349171/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/8d7f4285353244e2979c2c38c4a6eff2Test

المؤلفون: Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun, Lijie Song

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Low pass genome sequencing, Mosaic CNVs, Mosaic aneuploidies, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/7532e7768835453c8d80315189966453Test

المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, 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, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3tc3h13fTest

المؤلفون: Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen

مصطلحات موضوعية: Genetics, Science Policy, Mental Health, Biological Sciences not elsewhere classified, wide dna microarray, personal development ), fragile x syndrome, exclude rett syndrome, div >< p, detected 1708 non, copy number variations, cnv based test, currently around 10, around 6 %, performed genetic screening, first tier screening, de novo <, autism spectrum disorder, candidate genomic regions, five loss cnvs, 3 females ), identified six cnvs, vietnamese asd patients, around 1, six patients, shank3 <, performed genome, developmental disorder, candidate cnvs, candidate genes

العلاقة: https://figshare.com/articles/journal_contribution/S1_File_-/25362869Test

الإتاحة: https://doi.org/10.1371/journal.pone.0290936.s001Test

المؤلفون: Lin Chen, Li Wang, Yang Zeng, Daishu Yin, Feng Tang, Dan Xie, Hongmei Zhu, Hongqian Liu, Jing Wang

المصدر: BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Noninvasive prenatal screening (NIPS), Extended noninvasive prenatal screening, Pathogenic/likely pathogenic copy number variants (P/LP CNVs), Fetus, Invasive prenatal diagnosis, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2393Test

الوصول الحر: https://doaj.org/article/df38eaeb8c404d14932f6d051ead68ecTest

المؤلفون: David de Uña-Iglesias, Juan Pablo Ochoa, Lorenzo Monserrat, Roberto Barriales-Villa

المصدر: Genes, Vol 15, Iss 6, p 774 (2024)

مصطلحات موضوعية: cardiomyopathies, copy number variants (CNVs), NGS, hypertrophic cardiomyopathy, HCM, dilated cardiomyopathy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/6/774Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/f56c45fe7e674d31a5cd2657441c8bf7Test