-
1دورية أكاديمية
المؤلفون: Moriot, A., Hall, D.
المصدر: Genetics in medicine, vol. 21, no. 3, pp. 613-621
مصطلحات موضوعية: Alleles, Biomarkers/blood, Cell-Free Nucleic Acids/analysis, Cell-Free Nucleic Acids/genetics, DNA/blood, Fathers, Female, Fetus, Forensic Genetics/methods, Gene Frequency/genetics, Genetic Markers/genetics, Genotype, Humans, INDEL Mutation/genetics, Microsatellite Repeats/genetics, Paternal Inheritance/genetics, Polymorphism, Genetic/genetics, Pregnancy, Prenatal Diagnosis/methods, Sequence Analysis, DNA/methods, Cell-free DNA, DIP-STR, DNA mixture, Noninvasive prenatal testing, Paternity testing
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30072742; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_39BEF9A322ED0; https://serval.unil.ch/notice/serval:BIB_39BEF9A322EDTest; urn:issn:1098-3600; https://serval.unil.ch/resource/serval:BIB_39BEF9A322ED.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_39BEF9A322ED0Test
الإتاحة: https://doi.org/10.1038/s41436-018-0102-9Test
https://serval.unil.ch/notice/serval:BIB_39BEF9A322EDTest
https://serval.unil.ch/resource/serval:BIB_39BEF9A322ED.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_39BEF9A322ED0Test -
2دورية أكاديمية
المؤلفون: Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E, van Kempen, Marjan, Brilstra, Eva H, Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S, Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E, Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d'Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J, Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R, Møller, Rikke S, Baulac, Stéphanie
المصدر: Baldassari , S , Picard , F , Verbeek , N E , van Kempen , M , Brilstra , E H , Lesca , G , Conti , V , Guerrini , R , Bisulli , F , Licchetta , L , Pippucci , T , Tinuper , P , Hirsch , E , de Saint Martin , A , Chelly , J , Rudolf , G , Chipaux , M , Ferrand-Sorbets , S , Dorfmüller , G , Sisodiya , S , Balestrini , S , Schoeler , N , Hernandez-Hernandez , L , Krithika , ....
مصطلحات موضوعية: Adolescent, Brugada Syndrome/genetics, Child, Preschool, DNA Copy Number Variations/genetics, Epilepsy/complications, Female, GTPase-Activating Proteins/genetics, Genetic Predisposition to Disease, Humans, INDEL Mutation/genetics, Infant, Newborn, Loss of Function Mutation/genetics, Male, Mechanistic Target of Rapamycin Complex 1/genetics, Multiprotein Complexes/genetics, Pedigree, Repressor Proteins/genetics, Seizures/complications, Signal Transduction/genetics, Tumor Suppressor Proteins/genetics
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41436-018-0060-2Test
https://curis.ku.dk/portal/da/publications/the-landscape-of-epilepsyrelated-gator1-variantsTest(38020661-64e8-45ed-bc0c-a6ec60380e45).html
https://curis.ku.dk/ws/files/234700911/s41436_018_0060_2.pdfTest -
3
المؤلفون: Lovelace J. Luquette, Michael B. Miller, Zinan Zhou, Craig L. Bohrson, Yifan Zhao, Hu Jin, Doga Gulhan, Javier Ganz, Sara Bizzotto, Samantha Kirkham, Tino Hochepied, Claude Libert, Alon Galor, Junho Kim, Michael A. Lodato, Juan I. Garaycoechea, Charles Gawad, Jay West, Christopher A. Walsh, Peter J. Park
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Nature Genetics, 54(10), 1564-1571. Nature Publishing Group
NATURE GENETICS
Nat Genetمصطلحات موضوعية: Neurons, High-Throughput Nucleotide Sequencing/methods, Genome, Human/genetics, INDEL Mutation/genetics, Genome, Human, Nucleotides, High-Throughput Nucleotide Sequencing, Biology and Life Sciences, Polymorphism, Single Nucleotide/genetics, Polymorphism, Single Nucleotide, Article, INDEL Mutation, Genetics, Medicine and Health Sciences, Genome, Human/genetics, Humans, Point Mutation, Polymorphism, Single-Cell Analysis, Single Nucleotide/genetics, SIGNATURES
وصف الملف: application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbfb2ab572d96cf2841204754caaf5dTest
https://pure.knaw.nl/portal/en/publications/c32b40db-e719-45a1-8319-adee9a8a4292Test -
4دورية أكاديمية
المؤلفون: Wala, Jeremiah A, Bandopadhayay, Pratiti, Greenwald, Noah F, O'Rourke, Ryan, Sharpe, Ted, Stewart, Chip, Schumacher, Steve, Li, Yilong, Weischenfeldt, Joachim, Yao, Xiaotong, Nusbaum, Chad, Campbell, Peter, Getz, Gad, Meyerson, Matthew, Zhang, Cheng-Zhong, Imielinski, Marcin, Beroukhim, Rameen
المصدر: Wala , J A , Bandopadhayay , P , Greenwald , N F , O'Rourke , R , Sharpe , T , Stewart , C , Schumacher , S , Li , Y , Weischenfeldt , J , Yao , X , Nusbaum , C , Campbell , P , Getz , G , Meyerson , M , Zhang , C-Z , Imielinski , M & Beroukhim , R 2018 , ' SvABA : genome-wide detection of structural variants and indels by local assembly ' , Genome Research , vol. 28 , no. 4 , pp. 581-591 . https://doi.org/10.1101/gr.221028.117Test
مصطلحات موضوعية: Databases, Genetic, Genome, Human/genetics, Genomic Structural Variation/genetics, Genomics, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation/genetics, Sequence Analysis, DNA, Sequence Deletion/genetics, Software, Virus Integration/genetics
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1101/gr.221028.117Test
https://curis.ku.dk/portal/da/publications/svabaTest(1d21a00c-64a4-419c-bea0-b65c8c11cee7).html
https://curis.ku.dk/ws/files/215041199/Genome_Res._2018_Wala_581_91.pdfTest -
5دورية أكاديمية
-
6دورية أكاديمية
المؤلفون: Vale-Silva, L., Beaudoing, E., Tran, VDT, Sanglard, D.
المصدر: G3, vol. 7, no. 8, pp. 2413-2426
مصطلحات موضوعية: Candida glabrata/genetics, Candida glabrata/isolation & purification, Chromosomes, Fungal/genetics, Fungal Proteins/genetics, Genetic Variation, Genome, Genomics, Humans, INDEL Mutation/genetics, Molecular Sequence Annotation, Nucleotides/genetics, Polymorphism, Single Nucleotide/genetics, Genome Report, adhesins, drug resistance, fungal pathogens, genome comparisons
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28663342; info:eu-repo/semantics/altIdentifier/eissn/2160-1836; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CDBF97BBE25A9; https://serval.unil.ch/notice/serval:BIB_CDBF97BBE25ATest; urn:issn:2160-1836; https://serval.unil.ch/resource/serval:BIB_CDBF97BBE25A.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CDBF97BBE25A9Test
الإتاحة: https://doi.org/10.1534/g3.117.042887Test
https://serval.unil.ch/notice/serval:BIB_CDBF97BBE25ATest
https://serval.unil.ch/resource/serval:BIB_CDBF97BBE25A.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CDBF97BBE25A9Test -
7دورية أكاديمية
المؤلفون: Skov, Laurits, Schierup, Mikkel Heide, Sørensen, Lasse Maretty, Petersen, Bent, Sibbesen, Jonas Andreas, Liu, Siyang, Belling, Kirstine G, Have, Christian Theil, Bork-Jensen, Jette, Hansen, Torben, Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Rasmussen, Simon, Kristiansen, Karsten, Brunak, Søren
المصدر: Skov , L , Schierup , M H , Danish Pan Genome Consortium , Sørensen , L M , Petersen , B , Sibbesen , J A , Liu , S , Belling , K G , Have , C T , Bork-Jensen , J , Hansen , T , Krogh , A , Sørensen , T I A , Pedersen , O B , Rasmussen , S , Kristiansen , K & Brunak , S 2017 , ' Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion ' , ....
مصطلحات موضوعية: Chromosomes, Human, Y/genetics, Denmark, Evolution, Molecular, Fathers, Gene Conversion/genetics, Heterochromatin/genetics, Humans, INDEL Mutation/genetics, Infertility, Male/genetics, Inverted Repeat Sequences/genetics, Male, Nuclear Family, Phylogeny, Polymorphism, Single Nucleotide
الإتاحة: https://doi.org/10.1371/journal.pgen.1006834Test
https://curis.ku.dk/portal/da/publications/analysis-of-62-hybrid-assembled-human-y-chromosomes-exposes-rapid-structural-changes-and-high-rates-of-gene-conversionTest(0a9598b4-4a0a-4a39-b6f6-7fdd1bb7aee5).html -
8دورية أكاديمية
المؤلفون: Luquette, Lovelace J, Miller, Michael B, Zhou, Zinan, Bohrson, Craig L, Zhao, Yifan, Jin, Hu, Gulhan, Doga, Ganz, Javier, Bizzotto, Sara, Kirkham, Samantha, Hochepied, Tino, Libert, Claude, Galor, Alon, Kim, Junho, Lodato, Michael A, Garaycoechea, Juan I, Gawad, Charles, West, Jay, Walsh, Christopher A, Park, Peter J
المصدر: Luquette , L J , Miller , M B , Zhou , Z , Bohrson , C L , Zhao , Y , Jin , H , Gulhan , D , Ganz , J , Bizzotto , S , Kirkham , S , Hochepied , T , Libert , C , Galor , A , Kim , J , Lodato , M A , Garaycoechea , J I , Gawad , C , West , J , Walsh , C A & Park , P J 2022 , ' Single-cell genome sequencing of human neurons identifies somatic point mutation ....
مصطلحات موضوعية: Genome, Human/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, INDEL Mutation/genetics, Neurons, Nucleotides, Point Mutation, Polymorphism, Single Nucleotide/genetics, Single-Cell Analysis
الإتاحة: https://doi.org/10.1038/s41588-022-01180-2Test
https://doi.org/20.500.11755/c32b40db-e719-45a1-8319-adee9a8a4292Test
https://pure.knaw.nl/portal/en/publications/c32b40db-e719-45a1-8319-adee9a8a4292Test
https://hdl.handle.net/20.500.11755/c32b40db-e719-45a1-8319-adee9a8a4292Test -
9دورية أكاديمية
المساهمون: Eun Hye Kim, Hwan Young Lee, In Seok Yang, Woo Ick Yang, Kyoung-Jin Shin, Kim, Eun Hye, Shin, Kyoung Jin, Yang, Woo Ick, Yang, In Seok, Lee, Hwan Young
مصطلحات موضوعية: Asian Continental Ancestry Group/genetics, Founder Effect, Gene Frequency, Genetic Carrier Screening, Genetic Loci/genetics, Genetic Markers/genetics, Genetics, Population, Genotype, Humans, INDEL Mutation/genetics, Microsatellite Repeats/genetics, Polymerase Chain Reaction, Probability, Republic of Korea, Insertion�밺eletion polymorphism, Koreans, Forensic parameter, Ancestry informative marker
وصف الملف: 51~52
العلاقة: INTERNATIONAL JOURNAL OF LEGAL MEDICINE; J01126; OAK-2014-00168; https://ir.ymlib.yonsei.ac.kr/handle/22282913/98088Test; http://link.springer.com/article/10.1007%2Fs00414-013-0851-6Test; T201400261; INTERNATIONAL JOURNAL OF LEGAL MEDICINE, Vol.128(1) : 51-52, 2014
الإتاحة: https://doi.org/10.1007/s00414-013-0851-6Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/98088Test -
10دورية أكاديمية
المؤلفون: Santoni, F. A., Makrythanasis, P., Nikolaev, S., Guipponi, M., Robyr, D., Bottani, A., Antonarakis, S. E.
المصدر: Genome Res, vol. 24, no. 2, pp. 349-55
مصطلحات موضوعية: Algorithms, Computational Biology/methods, Databases, Genetic, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, INDEL Mutation/*genetics, Phenotype, Polymorphism, Single Nucleotide/*genetics, Sequence Analysis, DNA, Software
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24389049; info:eu-repo/semantics/altIdentifier/eissn/1549-5469; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F693255860887; https://serval.unil.ch/notice/serval:BIB_F69325586088Test; urn:issn:1088-9051; https://serval.unil.ch/resource/serval:BIB_F69325586088.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F693255860887Test
الإتاحة: https://doi.org/10.1101/gr.163832.113Test
https://serval.unil.ch/notice/serval:BIB_F69325586088Test
https://serval.unil.ch/resource/serval:BIB_F69325586088.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F693255860887Test