المؤلفون: Crellin, Steven J.^Aff5, Daugherty, L. Eugene^Aff6

المساهمون: Lucking, Steven E., editor^Aff1, Maffei, Frank A., editor^Aff2, Tamburro, Robert F., editor^Aff3, Zaritsky, Arno, editor^Aff4

المصدر: Pediatric Critical Care : Text and Study Guide. :1425-1460

المؤلفون: Sanders, Ronald C., Jr., Irby, Olivia K., Hefley, Glenda, Tellez, David, Typpo, Katri, Markovitz, Barry, Flori, Heidi, Cvijanovich, Natalie, Anas, Nick, Schwarz, Adam, Vargas-Shiraishi, Ofelia, Sapru, Anil, McQuillen, Patrick, Czaja, Angela, Mourani, Peter, Paden, Matthew, Tarquinio, Keiko, Stone, Cheryl L., Wardenburg, Juliane Bubeck, Pinto, Neethi, Montgomery, Vicki, Sullivan, Janice E., Randolph, Adrienne G., Agan, Anna A., Ash, Stephanie, Mistry, Anushay, Newhams, Margaret, Kurachek, Stephen C., Doctor, Allan, Hartman, Mary, Truemper, Edward, Mahapatra, Sidharth, Dawson, Machelle, Ackerman, Kate, Daugherty, L. Eugene, Nofziger, Ryan, Shein, Steve, Hall, Mark W., Steele, Lisa, Hanson-Huber, Lisa, Thomas, Neal J., Spear, Debra, Fitzgerald, Julie, Weiss, Scott, Bush, Jenny L., Graham, Kathryn, Higgerson, Renee, Christie, LeeAnn, Loftis, Laura L., Jaimon, Nancy, Gedeit, Rainer, Murkowski, Kathy, Novak, Tanya, McDonald, Douglas R., Newhams, Margaret M., Mistry, Anushay J., Panoskaltsis-Mortari, Angela, Mourani, Peter M., Weiss, Scott L., Tarquinio, Keiko M., Hartman, Mary E., Junger, Wolfgang G.

المصدر: In The Journal of Allergy and Clinical Immunology June 2020 145(6):1673-1680

المؤلفون: Daugherty, L. Eugene^Aff1_42, Maffei, Frank A.^Aff2_42

المساهمون: Lucking, Steven E., editor^AffID1, Maffei, Frank A., editor^AffID2, Tamburro, Robert F., editor^AffID3, Thomas, Neal J., editor^AffID4

المصدر: Pediatric Critical Care Study Guide : Text and Review. :912-932

Degree: M.D.

المؤلفون: Pleguezuelos-Manzano, Cayetano, Puschhof, Jens, Rosendahl Huber, Axel, van Hoeck, Arne, Wood, Henry M., Nomburg, Jason, Gurjao, Carino, Manders, Freek, Dalmasso, Guillaume, Stege, Paul B., Paganelli, Fernanda L., Geurts, Maarten H., Beumer, Joep, Mizutani, Tomohiro, Miao, Yi, van der Linden, Reinier, van der Elst, Stefan, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, L., Leigh, S. E. A., Leong, I. U. S.

المصدر: Nature. 580(7802):269-273

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-511044

المؤلفون: Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Giess, A., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Orioli, A., Patch, C., Perez-Gil, D., Pereira, M. B., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Smith, S. C., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Tanguy, M., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Cerkauskaite, Agne, Savige, Judy

المصدر: Scientific reports, Berlin : Nature Research, 2022, vol. 12, no. 1, art. no. 2722, p. [1-13]
Scientific Reports

مصطلحات موضوعية: Multidisciplinary, otorhinolaryngologic diseases, urologic and male genital diseases, female genital diseases and pregnancy complications

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40daad614d27b89048f76f4db9a06c98
https://doi.org/10.1038/s41598-022-06525-9

المؤلفون: Park, Joohyun, Tucci, Arianna, Cali, Elisa, Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Vestito, Letizia, Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Maroofian, Reza, Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J H, Horvath, Rita, Cipriani, Valentina, Chinnery, Patrick F, Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K, Consortium, Genomics England Research, Wood, Nicholas W, Hayer, Stefanie N, Bender, Friedemann, Menden, Benita, Demidov, German, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K, Blahak, Christian, Strom, Tim M, Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Rocca, Clarissa, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E, Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B, Hengel, Holger, Senderek, Jan, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Butryn, Michaela, Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Velic, Ana, Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lam, Tanya, Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Galanaki, Evangelia, Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T.

المصدر: Genetics in Medicine, 24, 10, pp. 2079-2090
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 2079-2090

مصطلحات موضوعية: Proteomics, Cerebellar Ataxia, Medizin, genetics [Muscle Spasticity], UCHL1, genetics [Optic Atrophy], genetics [Ubiquitin Thiolesterase], All institutes and research themes of the Radboud University Medical Center, Loss of Function Mutation, Gene burden, genetics [Spastic Paraplegia, Hereditary], Spinocerebellar Ataxias, Humans, ddc:610, genetics [Spinocerebellar Ataxias], Genetics (clinical), genetics [Cerebellar Ataxia], Spastic Paraplegia, Hereditary, Spastic ataxia, genetics [Ataxia], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Optic Atrophy, Muscle Spasticity, Mutation, Ataxia, Ubiquitin Thiolesterase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b701ad5919ac8af14db5fbd7dc6d5394
https://doi.org/10.1016/j.gim.2022.07.006

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المؤلفون: Hawthorne, W. B., Daugherty, L. C.

المصدر: IEEE Transactions on Aerospace and Navigational Electronics IEEE Trans. Aerosp. Navig. Electron. Aerospace and Navigational Electronics, IEEE Transactions on. 12(1):11-15 Mar, 1965

المؤلفون: Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Genomics England Research Consortium, Savige, Judy, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A.

المصدر: Scientific Reports; 7/4/2022, Vol. 12 Issue 1, p1-11, 11p

مصطلحات موضوعية: MISSENSE mutation, KIDNEY failure, KIDNEY diseases, SYNDROMES, GENETIC disorders