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1دورية أكاديمية
المؤلفون: Roberts, P, Northrup, H
المصدر: Molecular Genetics and Metabolism ; volume 141, page 108395 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108395Test
https://api.elsevier.com/content/article/PII:S1096719224003263?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224003263?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Northrup, H, Aronow, ME, Bebin, EM, Bissler, J, Darling, TN, de Vries, PJ, Frost, MD, Fuchs, Z, Gosnell, ES, Gupta, N, Jansen, AC, Jóźwiak, S, Kingswood, JC, Knilans, TK, McCormack, FX, Pounders, A, Roberds, SL, Rodriguez-Buritica, DF, Roth, J, Sampson, JR, Sparagana, S, Thiele, EA, Weiner, HL, Wheless, JW, Towbin, AJ, Krueger, DA, Annear, NMP, Bartels, U, Berhouma, M, Bissler, JJ, Budde, K, Byars, A, Chugani, H, Cowen, EW, Crino, PB, Curatolo, P, de Vries, P, Dilling, DF, Dunn, DW, Ekong, R, Ess, KC, Franz, DN, Frost, M, Fuchs, ZDB, Guay-Woodford, L, Haddad, L, Halbert, A, Hebert, AA, Henske, EP, Holmes, GL, Hook, D, Hulbert, J, Jansen, A, Johnson, SR, King, B, Koenig, MK, Korf, B, Kwiatkowski, DJ, Moss, J, Mowat, D, Mowrey, K, Nabbout, R, Nellist, MD, O'Callaghan, F, Patel, U, Roach, ES, Romp, R, Rozenberg, M, Ruoss, SJ, Sahin, M, Sampson, J, Samuels, JA, Sauter, M, Smith, CA, Soltani, K, Srivastava, S, Stuart, C, Teng, JMC, Trout, A, van Eeghen, A, Vanclooster, S, Wang, HZ, Wataya-Kaneda, M, Witman, P, Wright, T, Wu, JY, Young, L
المصدر: Pediatric Neurology , 123 pp. 50-66. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133454/1/1-s2.0-S088789942100151X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133454Test/
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3دورية أكاديمية
المؤلفون: Au, K. S., Hebert, L., Hillman, P., Baker, C., Brown, M. R., Kim, D.-K., Soldano, K., Garrett, M., Ashley-Koch, A., Lee, S., Gleeson, J., Hixson, J. E., Morrison, A. C., Northrup, H.
المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development
المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-021-83058-7Test
https://www.nature.com/articles/s41598-021-83058-7.pdfTest
https://www.nature.com/articles/s41598-021-83058-7Test -
4دورية أكاديمية
المؤلفون: Farach, Laura S., Richard, Melissa A., Lupo, Philip J., Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Bebin, Elizabeth M., Au, Kit Sing, Northrup, Hope, Sahin, M., Krueger, D., Bebin, M., Wu, J.Y., Northrup, H., Warfield, S., Peters, J., Scherrer, B., Goyal, M., Filip-Dhima, R., Dies, K., Bruns, S., Hanson, E., Bing, N., Kent, B., O'Kelley, S., Williams, M.E., Pearson, D., Cutter, G., Roberds, S., Murray, D.S.
المساهمون: National Institutes of Health, U.S. Department of Defense
المصدر: Pediatric Neurology ; volume 113, page 46-50 ; ISSN 0887-8994
مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2020.07.015Test
https://api.elsevier.com/content/article/PII:S088789942030271X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S088789942030271X?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Khare, L, Strizheva, GD, Bailey, JN, Au, KS, Northrup, H, Smith, M, Smalley, SL, Henske, EP
المصدر: Journal of medical genetics. 38(5)
مصطلحات موضوعية: Humans, Tuberous Sclerosis, GTPase-Activating Proteins, Tumor Suppressor Proteins, Repressor Proteins, Mental Disorders, Base Sequence, Sequence Homology, Genes, Dominant, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Exons, Tuberous Sclerosis Complex 2 Protein, guanosine triphosphatase activating protein, clinical article, exon, human, letter, missense mutation, priority journal, tuberous sclerosis, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5jv3t9fhTest
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6دورية أكاديمية
المؤلفون: Farach, Laura S., Pearson, Deborah A., Woodhouse, John P., Schraw, Jeremy M., Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Bebin, Elizabeth M., Lupo, Philip J., Au, Kit Sing, Northrup, Hope, Sahin, M., Krueger, D., Bebin, M., Wu, J.Y., Northrup, H., Warfield, S., Peters, J., Scherrer, B., Goyal, M., Filip-Dhima, R., Dies, K., Bruns, S., Hanson, E., Bing, N., Kent, B., O'Kelley, S., Williams, M.E., Pearson, D., Cutter, G., Roberds, S., Murray, D.S.
المساهمون: Autism Center of Excellence Network, Developmental Synaptopathies Consortium, Department of Defense, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institute of Mental Health, National Center for Advancing Translational Sciences
المصدر: Pediatric Neurology ; volume 96, page 58-63 ; ISSN 0887-8994
مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2019.03.003Test
https://api.elsevier.com/content/article/PII:S088789941831292X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S088789941831292X?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Kandt, RS, Haines, JL, Smith, M, Northrup, H, Gardner, RJM, Short, MP, Dumars, K, Roach, ES, Steingold, S, Wall, S, Blanton, SH, Flodman, P, Kwiatkowski, DJ, Jewell, A, Weber, JL, Roses, AD, Pericak-Vance, MA
المصدر: Nature Genetics. 2(1)
مصطلحات موضوعية: Biological Sciences, Genetics, Polycystic Kidney Disease, Brain Disorders, Rare Diseases, Tuberous Sclerosis, Kidney Disease, Alleles, Chromosomes, Human, Pair 16, Female, Genes, Dominant, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Pedigree, Polycystic Kidney, Autosomal Dominant, allele, article, chromosome 16, dominant gene, female, genetic linkage, genetic marker, genetics, human, kidney polycystic disease, male, pedigree, tuberous sclerosis, Human, Linkage, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2sd6j0xcTest
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8دورية أكاديمية
المؤلفون: Sluijs, P.J. van der, Joosten, Marieke, Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E.C., Ahlers, K.P., Arts, P., Barnett, C.P., Ashfaq, M., Baban, A., Born, M. van den, Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., Chong, K., Cueto-González, A.M., Dempsey, J.C., Diderich, K.E.M., Doherty, D., Farholt, S., Gerkes, E.H., Gorokhova, S., Govaerts, L.C.P., Gregersen, P.A., Hickey, S.E., Lefebvre, M., Mari, F., Martinovic, Jelena, Northrup, H., O'Leary, M., Parbhoo, K., Patrier, S., Popp, B., Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson, E., Vulto-van Silfhout, A.T., Zahir, F.R., Scott, H.S., Earl, R.K., Eichler, E.E., Vora, N.L., Wilnai, Y., Giordano, J.L., Wapner, R.J., Rosenfeld, J.A., Haak, M.C., Santen, G.W.E.
المصدر: Genetics in Medicine, 24, 8, pp. 1753-1760
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/282685/282685.pdfTest; https://repository.ubn.ru.nl/handle/2066/282685Test
الإتاحة: https://doi.org/10.1016/j.gim.2022.04.010Test
https://repository.ubn.ru.nl//bitstream/handle/2066/282685/282685.pdfTest
https://repository.ubn.ru.nl/handle/2066/282685Test -
9دورية أكاديمية
المؤلفون: Lindstrom, K, Sacharow, S, Northrup, H, Whitehall, KB, Rowell, R, Burton, B, Thomas, J
المصدر: Molecular Genetics and Metabolism ; volume 136, page S23 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/s1096-7192Test(22)00222-0
https://api.elsevier.com/content/article/PII:S1096719222002220?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222002220?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Yang, J., Bassuk, A.G., Merl-Pham, J., Hsu, C.W., Colgan, D.F., Li, X., Au, K.S., Zhang, L., Smemo, S., Justus, S., Nagahama, Y., Grossbach, A.J., Howard, M.A., Kawasaki, H., Feldstein, N.A., Dobyns, W.B., Northrup, H., Hauck, S.M., Ueffing, M., Mahajan, V.B., Tsang, S.H.
المصدر: Hum. Mol. Genet. 25, 4201-4210 (2016)
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27516388; info:eu-repo/semantics/altIdentifier/wos/WOS:000395807800005; info:eu-repo/semantics/altIdentifier/isbn/0964-6906; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49266Test; urn:isbn:0964-6906; urn:issn:0964-6906; urn:issn:1460-2083
الإتاحة: https://doi.org/10.1093/hmg/ddw253Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49266Test