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

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

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

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

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

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

العلاقة: https://pure.knaw.nl/portal/en/publications/c32b40db-e719-45a1-8319-adee9a8a4292Test

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

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

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

المؤلفون: Simon, Michelle M, Greenaway, Simon, Dacquin, Romain, Djebali, Sophia, Estabel, Jeanne, Graw, Jochen, Ingham, Neil J, Jackson, Ian J, Lengeling, Andreas, Mandillo, Silvia, Marvel, Jacqueline, Meziane, Hamid, White, Jacqueline K, Preitner, Frédéric, Puk, Oliver, Roux, Michel, Adams, David J, Atkins, Sarah, Ayadi, Abdel, Becker, Lore, Blake, Andrew, Brooker, Debra, Cater, Heather, Fuchs, Helmut, Champy, Marie-France, Combe, Roy, Danecek, Petr, di Fenza, Armida, Gates, Hilary, Gerdin, Anna-Karin, Golini, Elisabetta, Hancock, John M, Hans, Wolfgang, Hölter, Sabine M, Gailus-Durner, Valérie, Hough, Tertius, Jurdic, Pierre, Keane, Thomas M, Morgan, Hugh, Müller, Werner, Neff, Frauke, Nicholson, George, Pasche, Bastian, Roberson, Laura-Anne, Rozman, Jan, Wells, Sara, Sanderson, Mark, Santos, Luis, Selloum, Mohammed, Shannon, Carl, Southwell, Anne, Tocchini-Valentini, Glauco P, Vancollie, Valerie E, Westerberg, Henrik, Wurst, Wolfgang, Zi, Min, Sorg, Tania, Yalcin, Binnaz, Ramirez-Solis, Ramiro, Steel, Karen P, Mallon, Ann-Marie, de Angelis, Martin Hrabě, Herault, Yann, Brown, Steve D M, Wong, Kim, Bedu, Elodie, Cartwright, Elizabeth J

المصدر: Genome biology 14(7), R82 (2013). doi:10.1186/gb-2013-14-7-r82

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Animals, Behavior, Animal, Disease Resistance: immunology, Eye: pathology, Female, Femur: diagnostic imaging, Genome: genetics, Hypersensitivity: immunology, INDEL Mutation: genetics, Killer Cells, Natural: immunology, Listeriosis: immunology, Listeriosis: microbiology, Male, Maze Learning, Mice, Inbred C57BL, Phenotype, Polymorphism, Single Nucleotide: genetics, Spleen: immunology, X-Ray Microtomography

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:23902802; info:eu-repo/semantics/altIdentifier/issn/1474-760X; info:eu-repo/semantics/altIdentifier/issn/1465-6914; info:eu-repo/semantics/altIdentifier/issn/1465-6906; info:eu-repo/semantics/altIdentifier/issn/1474-7596; https://pub.dzne.de/record/137164Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03486%22Test

الإتاحة: https://doi.org/10.1186/gb-2013-14-7-r82Test
https://pub.dzne.de/record/137164Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-03486%22Test

المؤلفون: Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betül, Reutter, Heiko, Draaken, Markus, Ludwig, Michael, Altmüller, Janine, Frommolt, Peter, Stuart, Helen M., Ranjzad, Parisa, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nürnberg, Peter, Woolf, Adrian S.

المصدر: Weber , S , Thiele , H , Mir , S , Toliat , M R , Sozeri , B , Reutter , H , Draaken , M , Ludwig , M , Altmüller , J , Frommolt , P , Stuart , H M , Ranjzad , P , Hanley , N A , Jennings , R , Newman , W G , Wilcox , D T , Thiel , U , Schlingmann , K P , Beetz , R , Hoyer , P F , Konrad , M , Schaefer , F , Nürnberg , P & ....

مصطلحات موضوعية: Animals, Base Sequence, Consanguinity, Female, Frameshift Mutation/genetics, Humans, INDEL Mutation/genetics, Immunohistochemistry, Male, Metabolism, Inborn Errors/*genetics, Mice, Knockout, Models, Molecular, Prune Belly Syndrome/*genetics/pathology, Receptor, Muscarinic M3/deficiency/genetics, Sequence Homology, Nucleic Acid, Sex Factors, Urinary Bladder/embryology/pathology, Urinary Bladder Neck Obstruction/genetics/pathology

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.10.007Test
https://research.manchester.ac.uk/en/publications/0bf7f33c-0436-46bf-8a4d-ef8433120bc6Test
http://www.ncbi.nlm.nih.gov/pubmed/22077972Test