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1دورية أكاديمية
المؤلفون: Mokhtarani, M, Diaz, GA, Rhead, W, Lichter-Konecki, U, Bartley, J, Feigenbaum, A, Longo, N, Berquist, W, Berry, SA, Gallagher, R, Bartholomew, D, Harding, CO, Korson, MS, McCandless, SE, Smith, W, Vockley, J, Bart, S, Kronn, D, Zori, R, Cederbaum, S, Dorrani, N, Merritt, JL, Sreenath-Nagamani, Sandesh, Summar, M, LeMons, C, Dickinson, K, Coakley, DF, Moors, TL, Lee, B, Scharschmidt, BF
المصدر: Molecular Genetics and Metabolism. 107(3)
مصطلحات موضوعية: Clinical Research, Adolescent, Adult, Ammonia, Biomarkers, Pharmacological, Child, Cross-Over Studies, Drug Administration Schedule, Female, Glutamine, Glycerol, Humans, Male, Phenylacetates, Phenylbutyrates, Urea Cycle Disorders, Inborn, Urea cycle disorders, Phenylacetic acid, Glycerol phenylbutyrate, Sodium phenylbutyrate, Phenylacetylglutamine, Phenylbutyric acid, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/73m498jmTest
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2دورية أكاديمية
المؤلفون: Kronn, D, Davidson, J, Brassier, A, Broomfield, A, Hahn, S H, Kumada, S, Labarthe, F, Ohki, H, Prakalapakorn, S G, Haack, K A, Meng, X Z, Sparks, S, Tammireddy, S, Wilson, C, Zaher, A, Zhou, T Y, Chien, Y H, Kishnani, P S
المصدر: NYMC Faculty Conference Abstracts
مصطلحات موضوعية: Faculty, Medicine and Health Sciences
الإتاحة: https://doi.org/10.1016/j.ymgme.2021.11.171Test
https://touroscholar.touro.edu/nymc_fac_abstracts/722Test -
3دورية أكاديمية
المؤلفون: Kronn, D, Davidson, J, Brassier, A, Broomfield, A, Hahn, S H, Kumada, S, Labarthe, F, Ohki, H, Prakalapakorn, S G, Haack, K A, Meng, X, Sparks, S, Tammireddy, S, Wilson, C, Zaher, A, Zhou, T, Chien, Y H, Kishnani, P
المصدر: NYMC Faculty Conference Abstracts
مصطلحات موضوعية: Faculty, Medicine and Health Sciences
الإتاحة: https://doi.org/10.1016/j.gim.2022.01.566Test
https://touroscholar.touro.edu/nymc_fac_abstracts/616Test -
4دورية أكاديمية
المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.
المساهمون: Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W. K., Reymond, A.
مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1451931Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668
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5دورية أكاديمية
المؤلفون: Voisin, N., Schnur, R., Douzgou , S., Hiatt, S., Rustad, C., Brown, N., Earl, D., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson , D., Zarate, Y., Hančárová, M., Amor, D., Bebin, E., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkölbl, A., Funari, T., Giannuzzi , G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, Ø., Hurst, A., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalová, D., Rhodes, L., Sanders , V., Sedláček, Z., Seebacher , H., Sellars, E., Sirchia, F., Takenouchi, T., Tanaka, A., Taska-Tench, H., Tønne, E., Tveten, K., Vitiello, G., Vlčková , M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W., Reymond, A.
المصدر: The American Journal of Human Genetics
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6دورية أكاديمية
المؤلفون: Conte, F., Morava, E., Abu Bakar, N., Wortmann, S.B., Poerink, A.J., Grunewald, S., Crushell, E., Al-Gazali, L., Vries, M.C. de, MØrkrid, L., Hertecant, J., Holmefjord, K.S.B., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S.Y.W., Scherpenzeel, M. van, Voermans, N.C., Lefeber, D.J.
المصدر: Molecular Genetics and Metabolism, 131, 1-2, pp. 135-146
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/229474/229474.pdfTest; https://hdl.handle.net/2066/229474Test; https://doi.org/10.1016/j.ymgme.2020.08.003Test
الإتاحة: https://doi.org/10.1016/j.ymgme.2020.08.003Test
https://hdl.handle.net/2066/229474Test
https://repository.ubn.ru.nl//bitstream/handle/2066/229474/229474.pdfTest -
7دورية أكاديمية
المؤلفون: M., Mokhtarani, Mokhtarani, M., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S.A., Gallagher, R., Bartholomew, D., Harding, C.O., Korson, M.S., McCandless, S.E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S., Dorrani, N., Merritt, J.L., Sreenath-Nagamani, Sandesh, Summar, M., LeMons, C., Dickinson, K., Coakley, D.F., Moors, T.L., Lee, B., Scharschmidt, B.F.
وصف الملف: [Elsevier APIv3;S109671921200306X]
العلاقة: Molecular Genetics and Metabolism; S1096-7192(12)00306-X; http://ufdc.ufl.edu/LS00002314/00011Test
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8دورية أكاديمية
المؤلفون: Kronn, D., Shapiro, L.R., Kelly, R., Braverman, N.
المصدر: Genetics in Medicine ; volume 2, issue 1, page 72 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1097/00125817-200001000-00077Test
https://api.elsevier.com/content/article/PII:S1098360021003828?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021003828?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.
المساهمون: National Institutes of Health, Simons Foundation
المصدر: Clinical Genetics ; volume 92, issue 2, page 221-223 ; ISSN 0009-9163 1399-0004
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10دورية أكاديمية
المؤلفون: Vogel, B.H., Bradley, S.E., Adams, D.J., D'Aco, K., Erbe, R.W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C.A., Shur, N., Wasserstein, M., Raymond, G.V., Caggana, M.
المصدر: Molecular Genetics and Metabolism ; volume 114, issue 4, page 599-603 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2015.02.002Test
https://api.elsevier.com/content/article/PII:S1096719215000384?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719215000384?httpAccept=text/plainTest