المؤلفون: Zhou, Tong, Chou, Jeff W., Simpson, Dennis A., Zhou, Yingchun, Mullen, Thomas E., Medeiros, Margarida, Bushel, Pierre R., Paules, Richard S., Yang, Xuebin, Hurban, Patrick, Lobenhofer, Edward K., Kaufmann, William K.

المصدر: Environmental Health Perspectives, 2006 Apr 01. 114(4), 553-559.

الوصول الحر: https://www.jstor.org/stable/3650937Test

المؤلفون: VanNoy, Grace E., Wojcik, Monica H., Genetti, Casie A., Mullen, Thomas E., Agrawal, Pankaj B., Stein, Deborah R.

المساهمون: National Institutes of Health

المصدر: Kidney International Reports ; volume 5, issue 8, page 1316-1319 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2020.05.008Test
https://api.elsevier.com/content/article/PII:S2468024920312699?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024920312699?httpAccept=text/plainTest

المؤلفون: Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Aguet, François, Arachchi, Harindra M., Austin-Tse, Christina A., Babb, Larry, Baxter, Samantha M., Brand, Harrison, Chang, Jaime, Chao, Katherine R., Collins, Ryan L., Cummings, Beryl, Delano, Kayla, DiTroia, Stephanie P., England, Eleina, Evangelista, Emily, Everett, Selin, Francioli, Laurent C., Fu, Jack, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Goodrich, Julia K., Gudmundsson, Sanna, Hall, Stacey J., Huang, Yongqing, Jahl, Steve, Laricchia, Kristen M., Larkin, Kathryn E., Lek, Monkol, Lemire, Gabrielle, Lipson, Rachel B., Lovgren, Alysia Kern, MacArthur, Daniel G., Mangilog, Brian E., Mano, Stacy, Marshall, Jamie L., Mullen, Thomas E., Nguyen, Kevin K., O’Heir, Emily, O’Leary, Melanie C., Osei-Owusu, Ikeoluwa A., de Acha Chavez, Jorge Perez, Pierce-Hoffman, Emma, Rehm, Heidi L., Serrano, Jillian

المساهمون: Department of Health | National Health and Medical Research Council, Hospital Research Foundation, U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

المصدر: Nature Medicine ; volume 30, issue 1, page 302-302 ; ISSN 1078-8956 1546-170X

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1038/s41591-023-02487-1Test
https://www.nature.com/articles/s41591-023-02487-1.pdfTest
https://www.nature.com/articles/s41591-023-02487-1Test

المؤلفون: Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Åusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G., De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E., Lek, Monkol, MacArthur, Daniel G., Straub, Volker

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)

مصطلحات موضوعية: Dystroglycanopathies, Limb-girdle muscle weakness, Whole-exome sequencing

العلاقة: boreal:220057; http://hdl.handle.net/2078.1/220057Test; info:pmid/; urn:EISSN:2044-5040

الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
http://hdl.handle.net/2078.1/220057Test

المؤلفون: Mason-Suares, Heather, Toledo, Diana, Gekas, Jean, Lafferty, Katherine A, Meeks, Naomi, Pacheco, M Cristina, Sharpe, David, Mullen, Thomas E, Lebo, Matthew S

المصدر: European Journal of Human Genetics ; volume 25, issue 4, page 509-511 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2016.202Test
http://www.nature.com/articles/ejhg2016202.pdfTest
http://www.nature.com/articles/ejhg2016202Test

المؤلفون: Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

المصدر: The American Journal of Human Genetics ; volume 101, issue 2, page 267-273 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.07.002Test
https://api.elsevier.com/content/article/PII:S000292971730280X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971730280X?httpAccept=text/plainTest

المؤلفون: Lusakowska, Anna, Topf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G., De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernandez-Torron, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E., Lek, Monkol, MacArthur, Daniel G., Straub, Volker, Durmus, Hacer, Johnson, Katherine, Bertoli, Marta, Phillips, Lauren

المساهمون: Newcastle University - UK ,, 254830

مصطلحات موضوعية: Moleküler Biyoloji ve Genetik, HÜCRE BİYOLOJİSİ, Sağlık Bilimleri, Temel Tıp Bilimleri, Histoloji-Embriyoloji, Yaşam Bilimleri, Temel Bilimler, Yaşam Bilimleri (LIFE), Tıp

العلاقة: SKELETAL MUSCLE; Johnson K., Bertoli M., Phillips L., Topf A., Van den Bergh P., Vissing J., Witting N., Nafissi S., Jamal-Omidi S., Lusakowska A., et al., "Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness", SKELETAL MUSCLE, cilt.8, 2018; vv_1032021; av_13f96335-8593-4e28-8a32-6582400276e8; http://hdl.handle.net/20.500.12627/18835Test; https://doi.org/10.1186/s13395-018-0170-1Test

الإتاحة: https://doi.org/20.500.12627/18835Test
https://doi.org/10.1186/s13395-018-0170-1Test
https://hdl.handle.net/20.500.12627/18835Test

المؤلفون: Stadelmaier, Rachel T., Kenna, Margaret A., Barrett, Devon, Mullen, Thomas E., Bodamer, Olaf, Agrawal, Pankaj B., Robson, Caroline D., Wojcik, Monica H.

المساهمون: National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, National Eye Institute

المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 12, page 3770-3783 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62450Test

المؤلفون: Maron, Jill L., Kingsmore, Stephen F., Wigby, Kristen, Chowdhury, Shimul, Dimmock, David, Poindexter, Brenda, Suhrie, Kristen, Vockley, Jerry, Diacovo, Thomas, Gelb, Bruce D., Stroustrup, Annemarie, Powell, Cynthia M., Trembath, Andrea, Gallen, Matthew, Mullen, Thomas E., Tanpaiboon, Pranoot, Reed, Dallas, Kurfiss, Anne, Davis, Jonathan M.

المصدر: JAMA Pediatrics ; volume 175, issue 5, page e205906 ; ISSN 2168-6203

الإتاحة: https://doi.org/10.1001/jamapediatrics.2020.5906Test
https://jamanetwork.com/journals/jamapediatrics/articlepdf/2776425/jamapediatrics_maron_2021_oi_200096_1624295259.07579.pdfTest

المؤلفون: Gray, Jesse M., Harmin, David A., Boswell, Sarah A., Cloonan, Nicole, Mullen, Thomas E., Ling, Joseph J., Miller, Nimrod, Kuersten, Scott, Ma, Yong-Chao, McCarroll, Steven A., Grimmond, Sean M., Springer, Michael

وصف الملف: text

العلاقة: http://eprints.gla.ac.uk/93038/1/93038.pdfTest; Gray, J. M. et al. (2014) SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sample. PLoS ONE , 9(2), e89673. (doi:10.1371/journal.pone.0089673 ) (PMID:24586954) (PMCID:PMC3935918)

الإتاحة: https://doi.org/10.1371/journal.pone.0089673Test
http://eprints.gla.ac.uk/93038Test/
http://eprints.gla.ac.uk/93038/1/93038.pdfTest