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1رسالة جامعية
المؤلفون: Rawlins, L.
المساهمون: Emma, Baple, Crosby, Andrew
مصطلحات موضوعية: neurodevelopmental disorder, whole exome sequencing, rare disease, Amish, Pakistan, CEP55, INPP4A, KPTN, TRAPPC10
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2دورية أكاديمية
المؤلفون: Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., 2nd, Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E., Rowley, C., Relton, E., Sanderson, M., Scott, E. M., Stewart, H., Shuen, A. Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., van Ravenswaaij-Arts, C., Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C. J., Crino, P. B., Yalcin, B., Crosby, A. H., Baple, E. L., Logan, D. W., Hurles, M. E., Gerety, S. S.
مصطلحات موضوعية: Humans, Animals, Mice, Signal Transduction/genetics, TOR Serine-Threonine Kinases/metabolism, Brain/metabolism, Mechanistic Target of Rapamycin Complex 1/metabolism, Cognition, Microfilament Proteins/genetics, animal model, iPSC, mTOR, macrocephaly, neurodevelopmental disorders, recessive, advisor to Astra-Zeneca
العلاقة: Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, et al. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain : a journal of neurology. 2023;146(11):4766-83.; Brain : a journal of neurology; PMC10629792; https://hdl.handle.net/11287/623085Test
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3دورية أكاديمية
المؤلفون: Leslie, J. S., Hjeij, R., Vivante, A., Bearce, E. A., Dyer, L., Wang, J., Rawlins, L., Kennedy, J., Ubeyratna, N., Fasham, J., Irons, Z. H., Craig, S. B., Koenig, J., George, S., Pode-Shakked, B., Bolkier, Y., Barel, O., Mane, S., Frederiksen, K. K., Wenger, O., Scott, E., Cross, H. E., Lorentzen, E., Norris, D. P., Anikster, Y., Omran, H., Grimes, D. T., Crosby, A. H., Baple, E. L.
مصطلحات موضوعية: Daw1, Heterotaxy, Left-right asymmetry, Motile cilia, Primary ciliary dyskinesia
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00870-X; Genet Med. 2022 Sep 7:S1098-3600(22)00870-X. doi:10.1016/j.gim.2022.07.019.; https://rde.dspace-express.com/handle/11287/622663Test; Genetics in medicine
الإتاحة: https://doi.org/10.1016/j.gim.2022.07.019Test
https://rde.dspace-express.com/handle/11287/622663Test -
4دورية أكاديمية
المؤلفون: Tábara, L. C., Al-Salmi, F., Maroofian, R., Al-Futaisi, A. M., Al-Murshedi, F., Kennedy, J., Day, J. O., Courtin, T., Al-Khayat, A., Galedari, H., Mazaheri, N., Protasoni, M., Johnson, M., Leslie, J. S., Salter, C. G., Rawlins, L. E., Fasham, J., Al-Maawali, A., Voutsina, N., Charles, P., Harrold, L., Keren, B., Kunji, E. R. S., Vona, B., Jelodar, G., Sedaghat, A., Shariati, G., Houlden, H., Crosby, A. H., Prudent, J., Baple, E. L.
مصطلحات موضوعية: Endoplasmic Reticulum/genetics/metabolism, Humans, Mitochondria/genetics, Mutation/genetics, Proteins/genetics, Spastic Paraplegia, Hereditary, Tmem63c, endoplasmic reticulum/ER, hereditary spastic paraplegia/HSP, mitochondria, mitochondria-ER contact sites/MERCs
العلاقة: Brain. 2022 Sep 14;145(9):3095-3107. doi:10.1093/brain/awac123.; https://rde.dspace-express.com/handle/11287/622553Test; Brain : a journal of neurology; PMC9473353
الإتاحة: https://doi.org/10.1093/brain/awac123Test
https://rde.dspace-express.com/handle/11287/622553Test -
5دورية أكاديمية
المؤلفون: Rawlins L, Johnson BH, Johnston SS, Elangovanraaj N, Bhandari M, Cohen RV, Rheinwalt KP, Fryrear R, Roy S
المصدر: Medical Devices: Evidence and Research, Vol Volume 13, Pp 195-204 (2020)
مصطلحات موضوعية: sleeve gastrectomy, surgical staplers, bleeding, leak, cost, Medical technology, R855-855.5
وصف الملف: electronic resource
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6تقرير
المؤلفون: Khalaf-Nazzal, R., Dweikat, I., Ubeyratna, N., Fasham, J., Alawneh, M., Leslie, J., Maree, M., Gunning, A., Zayed, D. Z., Voutsina, N., McGavin, L., Sawafta, R., Owens, M., Baker, W., Turnpenny, P., Al-Hijawi, F., Baple, E. L., Crosby, A. H., Rawlins, L. E.
مصطلحات موضوعية: Palestinian, Tecpr2, autonomic neuropathy, autophagy, encephalopathy
العلاقة: https://doi.org/10.1002/ajmg.a.63579Test; Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, et al. TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. Am J Med Genet A. 2024:e63579.; American journal of medical genetics. Part A; https://hdl.handle.net/11287/623162Test
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7دورية أكاديمية
المؤلفون: Marwan, M., Dawood, M., Ullah, M., Shah, I. U., Khan, N., Hassan, M. T., Karam, M., Rawlins, L. E., Baple, E. L., Crosby, A. H., Saleha, S.
مصطلحات موضوعية: Humans, Consanguinity, Pakistan, c-Mer Tyrosine Kinase/genetics, Mutation, Retinal Dystrophies/genetics, Retinitis Pigmentosa/diagnosis, Pedigree, DNA Mutational Analysis, Mertk, Myo7a, Ped6c, Pakistani, Rho, Retinitis pigmentosa, Tulp1, Usher syndrome
العلاقة: https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-023-02948-8Test; Marwan M, Dawood M, Ullah M, Shah IU, Khan N, Hassan MT, et al. Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families. BMC Ophthalmol. 2023;23(1):205.; BMC ophthalmology; PMC10170854; https://hdl.handle.net/11287/622901Test
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8دورية أكاديمية
المؤلفون: Hamad, A., Sherlaw-Sturrock, C. A., Glover, K., Salmon, R., Low, K., Nair, R., Sansbury, F. H., Rawlins, L., Carmichael, J., Horton, R., Wedderburn, S., Edgerley, K., Irving, R., Callaghan, M., Mercer, C., McGowan, R., Robert, L., Titheradge, H., Naik, S.
مصطلحات موضوعية: Humans, Chromosome Duplication, Prospective Studies, Retrospective Studies, Phenotype, Chromosomes, Human, Pair 11, 16p13.11 micro duplication, Aortic dilatation, Congenital heart defect
العلاقة: Eur J Med Genet. 2023 Apr;66(4):104714. doi:10.1016/j.ejmg.2023.104714. Epub 2023 Jan 29.; European journal of medical genetics; https://hdl.handle.net/11287/622864Test
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9دورية أكاديمية
المؤلفون: Sala-Gaston, J., Pedrazza, L., Ramirez, J., Martinez-Martinez, A., Rawlins, L. E., Baple, E. L., Crosby, A. H., Mayor, U., Ventura, F., Rosa, J. L.
مصطلحات موضوعية: Animals, Antioxidants/metabolism, Guanine Nucleotide Exchange Factors/genetics/metabolism, Humans, Mice, Mitogen-Activated Protein Kinases/metabolism, NF-E2-Related Factor 2/genetics/metabolism, Oxidative Stress, Protein Serine-Threonine Kinases, Proteomics, Proto-Oncogene Proteins/metabolism, Proto-Oncogene Proteins c-raf/metabolism, Tumor Suppressor Protein p53/metabolism, Ubiquitin-Protein Ligases/genetics/metabolism, p38 Mitogen-Activated Protein Kinases/genetics/metabolism, Angelman, Cell stress, Mapk, Neurodevelopmental disorder, Ubiquitin
العلاقة: https://doi.org/10.1007/s00018-022-04586-7Test; Cell Mol Life Sci. 2022 Oct 14;79(11):548. doi:10.1007/s00018-022-04586-7.; https://rde.dspace-express.com/handle/11287/622716Test; Cellular and molecular life sciences; PMC9568463
الإتاحة: https://doi.org/10.1007/s00018-022-04586-7Test
https://rde.dspace-express.com/handle/11287/622716Test -
10دورية أكاديمية
المؤلفون: ZOLLO, MASSIMO, Ahmed, M., FERRUCCI, VERONICA, Salpietro, V., Asadzadeh, F., CAROTENUTO, MARIANEVE, Maroofian, R., Al Amri, A., Singh, R., Scognamiglio, I., Mojarrad, M., Musella, L., DUILIO, ANGELA, Di Somma, Angela, Karaca, E., Rajab, A., Al Khayat, A., Mohapatra, T. M., Eslahi, A., Ashrafzadeh, F., Rawlins, L. E., Prasad, R., Gupta, R., Kumari, P., Srivastava, M, COZZOLINO, FLORA, Rai, S. K., MONTI, MARIA, Harlalka, G. V., Simpson, M. A., Rich, P., Al Salmi, F., Patton, M. A., Chioza, B. A., Efthymiou, S., Granata, F., Di Rosa, G., Wiethoff, S., Borgione, E., Scuderi, C., Mankad, K., Hanna, M. G., PUCCI, PIETRO, Houlden, H., Lupski, J. R., Crosby, A. H., Baple, E. L.
المساهمون: Zollo, Massimo, Ahmed, M., Ferrucci, Veronica, Salpietro, V., Asadzadeh, F., Carotenuto, Marianeve, Maroofian, R., Al Amri, A., Singh, R., Scognamiglio, I., Mojarrad, M., Musella, L., Duilio, Angela, Di Somma, Angela, Karaca, E., Rajab, A., Al Khayat, A., Mohapatra, T. M., Eslahi, A., Ashrafzadeh, F., Rawlins, L. E., Prasad, R., Gupta, R., Kumari, P., Srivastava, M, Cozzolino, Flora, Rai, S. K., Monti, Maria, Harlalka, G. V., Simpson, M. A., Rich, P., Al Salmi, F., Patton, M. A., Chioza, B. A., Efthymiou, S., Granata, F., Di Rosa, G., Wiethoff, S., Borgione, E., Scuderi, C., Mankad, K., Hanna, M. G., Pucci, Pietro, Houlden, H., Lupski, J. R., Crosby, A. H., Baple, E. L.
مصطلحات موضوعية: PRUNE1, microcephaly, developmental delay, normal brain development, microtubule polymerization, tubulinopathy
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000397319400018; volume:140; issue:4; firstpage:940; lastpage:952; numberofpages:13; journal:BRAIN; http://hdl.handle.net/11588/670000Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021308492
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