المؤلفون: Montenegro-Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N., Madan-Khetarpal, Suneeta, Scott, Daryl A., Abarca-Barriga, Hugo, Trubnykova, Milana, Gingras, Marie Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard A.

المصدر: Universidad Peruana de Ciencias Aplicadas (UPC)Repositorio Academico - UPCHuman Mutation.

مصطلحات موضوعية: data lake, genocentric, germline mosaicism, in-frame deletion, KIF1A, literature review

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10757/655505Test

المؤلفون: Smolka, Moritz, Paulin, Luis F., Grochowski, Christopher M., Horner, Dominic W., Mahmoud, Medhat, Behera, Sairam, Kalef-Ezra, Ester, Gandhi, Mira, Hong, Karl, Pehlivan, Davut, Scholz, Sonja W., Carvalho, Claudia M. B., Proukakis, Christos, Sedlazeck, Fritz J.

المصدر: Nature Biotechnology ; ISSN 1087-0156 1546-1696

مصطلحات موضوعية: Biomedical Engineering, Molecular Medicine, Applied Microbiology and Biotechnology, Bioengineering, Biotechnology

الإتاحة: https://doi.org/10.1038/s41587-024-02141-2Test
https://www.nature.com/articles/s41587-024-02141-2.pdfTest
https://www.nature.com/articles/s41587-024-02141-2Test

المؤلفون: Smolka, Moritz, Paulin, Luis F., Grochowski, Christopher M., Horner, Dominic W., Mahmoud, Medhat, Behera, Sairam, Kalef-Ezra, Ester, Gandhi, Mira, Hong, Karl, Pehlivan, Davut, Scholz, Sonja W., Carvalho, Claudia M. B., Proukakis, Christos, Sedlazeck, Fritz J.

المصدر: Nature Biotechnology ; ISSN 1087-0156 1546-1696

مصطلحات موضوعية: Biomedical Engineering, Molecular Medicine, Applied Microbiology and Biotechnology, Bioengineering, Biotechnology

الإتاحة: https://doi.org/10.1038/s41587-023-02024-yTest
https://www.nature.com/articles/s41587-023-02024-y.pdfTest
https://www.nature.com/articles/s41587-023-02024-yTest

المؤلفون: Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, Hübner, Christian A.

المساهمون: MRC

المصدر: Genetics in Medicine ; volume 26, issue 3, page 101034 ; ISSN 1098-3600

الإتاحة: https://doi.org/10.1016/j.gim.2023.101034Test
https://api.elsevier.com/content/article/PII:S109836002301050X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109836002301050X?httpAccept=text/plainTest

المؤلفون: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

المصدر: Human Mutation. 41(11):1979-1998

مصطلحات موضوعية: chromosomal inversions, nonallelic homologous recombination, nonhomologous end-joining, recombinant chromosomes, replication-based repair mechanisms, whole-genome sequencing

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-170533Test
https://liu.diva-portal.org/smash/get/diva2:1476992/FULLTEXT01.pdfTest

المؤلفون: Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

المساهمون: US National Institutes of Health, National Human Genome Research Institute, NHLBI, NHGRI Genomic Research Elucidates Genetics of Rare disease, National Institute of General Medical Sciences, National Institute for Neurological Disorders and Stroke, Rett Syndrome Research Trust, International Rett Syndrome Foundation, Doris Duke Charitable Foundation, United States National Institute of Health, Child Neurologist Career Development Program K12 and MDA Development

المصدر: Nucleic Acids Research ; volume 52, issue 4, page e18-e18 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gkad1223Test
https://academic.oup.com/nar/article-pdf/52/4/e18/56762940/gkad1223.pdfTest

المؤلفون: Boschann, Felix, Cogulu, Ozgur, Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Fischer-Zirnsak, Björn, Badura, Simon, Durmaz, Burak, Ozkinay, Ferda, Hägerling, René, Posey, Jennifer E., Stricker, Sigmar, Gillessen-Kaesbach, Gabriele, Spielmann, Malte, Horn, Denise, Brockmann, Knut, Lupski, James R., Kornak, Uwe, Schmidt, Julia

المصدر: Genetics in Medicine ; volume 25, issue 5, page 100799 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100799Test
https://api.elsevier.com/content/article/PII:S1098360023008122?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023008122?httpAccept=text/plainTest

المؤلفون: Jolly, Angad, Du, Haowei, Borel, Christelle, Chen, Na, Zhao, Sen, Grochowski, Christopher M., Duan, Ruizhi, Fatih, Jawid M., Dawood, Moez, Salvi, Sejal, Jhangiani, Shalini N., Muzny, Donna M., Koch, André, Rouskas, Konstantinos, Glentis, Stavros, Deligeoroglou, Efthymios, Bacopoulou, Flora, Wise, Carol A., Dietrich, Jennifer E., Van den Veyver, Ignatia B., Dimas, Antigone S., Brucker, Sara, Sutton, V. Reid, Gibbs, Richard A., Antonarakis, Stylianos E., Wu, Nan, Coban-Akdemir, Zeynep H., Zhu, Lan, Posey, Jennifer E., Lupski, James R.

المصدر: Human Genetics and Genomics Advances ; volume 4, issue 3, page 100188 ; ISSN 2666-2477

مصطلحات موضوعية: Genetics (clinical), Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100188Test
https://api.elsevier.com/content/article/PII:S2666247723000209?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247723000209?httpAccept=text/plainTest

المؤلفون: Grochowski, Christopher M., Gibbs, Richard A., Doddapaneni, Harsha

المصدر: Current Protocols; May2024, Vol. 4 Issue 5, p1-11, 11p

المؤلفون: Boschann, Felix, Cogulu, Muhsin Ö., Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Schmidt, Julia

المساهمون: Boschann, Felix, Cogulu, Muhsin Ö., Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Schmidt, Julia

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/117927Test; S1098360022008498

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.012Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/117927Test