يعرض 1 - 10 نتائج من 33 نتيجة بحث عن '"Leistritz, Dru"', وقت الاستعلام: 0.90s تنقيح النتائج
  1. 1
    دورية أكاديمية
    P210: Unexpected recurrence of vascular Ehlers-Danlos syndrome in sibships due to parental mosaicism for COL3A1 variants

    المؤلفون: Conner, Kenzie, Schwarze, Ulrike, Byers, Peter, Leistritz, Dru

    المصدر: Genetics in Medicine Open ; volume 2, page 101107 ; ISSN 2949-7744

    الإتاحة: https://doi.org/10.1016/j.gimo.2024.101107Test
    https://api.elsevier.com/content/article/PII:S294977442400253X?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S294977442400253X?httpAccept=text/plainTest

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  2. 2
    دورية أكاديمية
    Genomic data in the All of Us Research Program

    المؤلفون: Bick, Alexander G., Metcalf, Ginger A., Mayo, Kelsey R., Lichtenstein, Lee, Rura, Shimon, Carroll, Robert J., Musick, Anjene, Linder, Jodell E., Jordan, I. King, Nagar, Shashwat Deepali, Sharma, Shivam, Meller, Robert, Basford, Melissa, Boerwinkle, Eric, Cicek, Mine S., Doheny, Kimberly F., Eichler, Evan E., Gabriel, Stacey, Gibbs, Richard A., Glazer, David, Harris, Paul A., Jarvik, Gail P., Philippakis, Anthony, Rehm, Heidi L., Roden, Dan M., Thibodeau, Stephen N., Topper, Scott, Blegen, Ashley L., Wirkus, Samantha J., Wagner, Victoria A., Meyer, Jeffrey G., Muzny, Donna M., Venner, Eric, Mawhinney, Michelle Z., Griffith, Sean M. L., Hsu, Elvin, Ling, Hua, Adams, Marcia K., Walker, Kimberly, Hu, Jianhong, Doddapaneni, Harsha, Kovar, Christie L., Murugan, Mullai, Dugan, Shannon, Khan, Ziad, Lennon, Niall J., Austin-Tse, Christina, Banks, Eric, Gatzen, Michael, Gupta, Namrata, Henricks, Emma, Larsson, Katie, McDonough, Sheli, Harrison, Steven M., Kachulis, Christopher, Lebo, Matthew S., Neben, Cynthia L., Steeves, Marcie, Zhou, Alicia Y., Smith, Joshua D., Frazar, Christian D., Davis, Colleen P., Patterson, Karynne E., Wheeler, Marsha M., McGee, Sean, Lockwood, Christina M., Shirts, Brian H., Pritchard, Colin C., Murray, Mitzi L., Vasta, Valeria, Leistritz, Dru, Richardson, Matthew A., Buchan, Jillian G., Radhakrishnan, Aparna, Krumm, Niklas, Ehmen, Brenna W., Schwartz, Sophie, Aster, M. Morgan T., Cibulskis, Kristian, Haessly, Andrea, Asch, Rebecca, Cremer, Aurora, Degatano, Kylee, Shergill, Akum, Gauthier, Laura D., Lee, Samuel K., Hatcher, Aaron, Grant, George B., Brandt, Genevieve R., Covarrubias, Miguel, Able, Ashley, Green, Ashley E., Zhang, Jennifer, Condon, Henry R., Wang, Yuanyuan, Dillon, Moira K., Albach, C. H., Baalawi, Wail, Choi, Seung Hoan, Wang, Xin, Rosenthal, Elisabeth A., Ramirez, Andrea H., Lim, Sokny, Nambiar, Siddhartha, Ozenberger, Bradley, Wise, Anastasia L., Lunt, Chris, Ginsburg, Geoffrey S., Denny, Joshua C.

    مصطلحات موضوعية: Multidisciplinary

    وصف الملف: application/pdf

    العلاقة: Nature; The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature (2024). https://doi.org/10.1038/s41586-023-06957-xTest; https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37377782Test

    الإتاحة: https://doi.org/10.1038/s41586-023-06957-xTest
    https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37377782Test

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  3. 3
    دورية أكاديمية
    Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

    المؤلفون: Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H

    المصدر: European Journal of Human Genetics ; volume 23, issue 6, page 796-802 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/ejhg.2014.181Test
    http://www.nature.com/articles/ejhg2014181.pdfTest
    http://www.nature.com/articles/ejhg2014181Test

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  4. 4
    دورية أكاديمية
    Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

    المؤلفون: Pepin, Melanie G., Schwarze, Ulrike, Rice, Kenneth M., Liu, Mingdong, Leistritz,, Dru, Byers, Peter H.

    المصدر: Genetics in Medicine ; volume 16, issue 12, page 881-888 ; ISSN 1098-3600

    الإتاحة: https://doi.org/10.1038/gim.2014.72Test
    http://www.nature.com/articles/gim201472.pdfTest
    http://www.nature.com/articles/gim201472Test
    https://api.elsevier.com/content/article/PII:S1098360021031300?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1098360021031300?httpAccept=text/plainTest

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  5. 5
    دورية أكاديمية
    WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

    المؤلفون: Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.

    المصدر: The American Journal of Human Genetics ; volume 92, issue 4, page 590-597 ; ISSN 0002-9297

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1016/j.ajhg.2013.02.009Test
    https://api.elsevier.com/content/article/PII:S0002929713000815?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0002929713000815?httpAccept=text/plainTest

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  6. 6
    دورية أكاديمية
    Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

    المؤلفون: Pyott, Shawna M., Schwarze, Ulrike, Christiansen, Helena E., Pepin, Melanie G., Leistritz, Dru F., Dineen, Richard, Harris, Catharine, Burton, Barbara K., Angle, Brad, Kim, Katherine, Sussman, Michael D., Weis, MaryAnn, Eyre, David R., Russell, David W., McCarthy, Kevin J., Steiner, Robert D., Byers, Peter H.

    مصطلحات موضوعية: ARTICLES

    وصف الملف: text/html

    العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/20/8/1595Test; http://dx.doi.org/10.1093/hmg/ddr037Test

    الإتاحة: https://doi.org/10.1093/hmg/ddr037Test
    http://hmg.oxfordjournals.org/cgi/content/short/20/8/1595Test

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  7. 7
    دورية أكاديمية
    COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

    المؤلفون: Leistritz, Dru F., Pepin, Melanie G., Schwarze, Ulrike, Byers, Peter H.

    المصدر: Genetics in Medicine ; volume 13, issue 8, page 717-722 ; ISSN 1098-3600

    مصطلحات موضوعية: Genetics (clinical)

    الإتاحة: https://doi.org/10.1097/gim.0b013e3182180c89Test
    https://api.elsevier.com/content/article/PII:S1098360021036273?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1098360021036273?httpAccept=text/plainTest

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  8. 8
    دورية أكاديمية
    Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A

    المؤلفون: Hisama, Fuki M., Lessel, Davor, Leistritz, Dru, Friedrich, Katrin, McBride, Kim L., Pastore, Matthew T., Gottesman, Gary S., Saha, Bidisha, Martin, George M., Kubisch, Christian, Oshima, Junko

    المصدر: American Journal of Medical Genetics Part A ; volume 155, issue 12, page 3002-3006 ; ISSN 1552-4825 1552-4833

    الإتاحة: https://doi.org/10.1002/ajmg.a.34336Test

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  9. 9
    دورية أكاديمية
    WRN mutations in Werner syndrome patients:genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

    المؤلفون: Friedrich, Katrin, Lee, Lin, Leistritz, Dru F., Nuernberg, Gudrun, Saha, Bidisha, Hisama, Fuki M., Eyman, Daniel K., Lessel, Davor, Nuernberg, Peter, Li, Chumei, Garcia-F-Villalta, Maria J., Kets, Carolien M., Schmidtke, Joerg, Cruz, Vitor Tedim, Van den Akker, Peter C., Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, Lopez, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F., Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M., Kubisch, Christian, Oshima, Junko

    المصدر: Friedrich , K , Lee , L , Leistritz , D F , Nuernberg , G , Saha , B , Hisama , F M , Eyman , D K , Lessel , D , Nuernberg , P , Li , C , Garcia-F-Villalta , M J , Kets , C M , Schmidtke , J , Cruz , V T , Van den Akker , P C , Boak , J , Peter , D , Compoginis , G , Cefle , K , Ozturk , S , Lopez , N , Wessel , T , Poot , ....

    مصطلحات موضوعية: SYNDROME PROTEIN, NUCLEAR-LOCALIZATION, SYNDROME LOCUS, SYNDROME GENE, DNA HELICASE, IDENTIFICATION, SCHIZOPHRENIA, EPIDEMIOLOGY, NEUREGULIN-1, VARIANTS

    العلاقة: https://research.rug.nl/en/publications/b5dc3c87-d64f-42d2-9116-3df7a4f14499Test

    الإتاحة: https://doi.org/10.1007/s00439-010-0832-5Test
    https://hdl.handle.net/11370/b5dc3c87-d64f-42d2-9116-3df7a4f14499Test
    https://research.rug.nl/en/publications/b5dc3c87-d64f-42d2-9116-3df7a4f14499Test

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  10. 10
    دورية أكاديمية
    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

    المؤلفون: Li, Chumei, Friedrich, Katrin, Lee, Lin, Leistritz, Dru F., Nuernberg, Gudrun, Saha, Bidisha, Hisama, Fuki M., Eyman, Daniel K., Lessel, Davor, Nuernberg, Peter, Garcia-F-Villalta, Maria J., Kets, Carolien M., Schmidtke, Joerg, Cruz, Vitor Tedim, Van den Akker, Peter C., Boak, Joseph, Peter, Dincy, Compoginis, Goli, Lopez, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F., Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M., Kubisch, Christian, Oshima, Junko, Ozturk, Sukru, Cefle, Kivanc

    المساهمون: University of Cologne ,, 42007

    مصطلحات موضوعية: Yaşam Bilimleri, GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Temel Bilimler

    العلاقة: HUMAN GENETICS; Friedrich K., Lee L., Leistritz D. F. , Nuernberg G., Saha B., Hisama F. M. , Eyman D. K. , Lessel D., Nuernberg P., Li C., et al., "WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations", HUMAN GENETICS, cilt.128, sa.1, ss.103-111, 2010; av_15f92cb1-61b8-48c2-9554-522cb5bb29a0; vv_1032021; http://hdl.handle.net/20.500.12627/20124Test; https://doi.org/10.1007/s00439-010-0832-5Test; 128; 103; 111

    الإتاحة: https://doi.org/20.500.12627/20124Test
    https://doi.org/10.1007/s00439-010-0832-5Test
    https://hdl.handle.net/20.500.12627/20124Test

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