نتائج البحث - "Grabrucker A. M."

1

دورية أكاديمية

Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome /

المؤلفون: Matulevičienė, Aušra, Šiaurytė, Kamilė, Kuiper, Els, Grabrucker, Andreas M.

المصدر: European journal of medical genetics., Amsterdam : Elsevier, 2023, vol. 66, iss. 6, art. no. 104763, p. [1-5]. ; ISSN 1769-7212 ; eISSN 1878-0849

مصطلحات موضوعية: Phelan-McDermid, SHANK3, zinc, chewing, constipation, gastroesophageal reflux, vomiting

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:164358854/164358854.pdfTest; https://repository.vu.lt/VU:ELABAPDB164358854&prefLang=en_USTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104763Test
https://repository.vu.lt/VU:ELABAPDB164358854&prefLang=en_USTest

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2

دورية أكاديمية

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

المصدر: van Eeghen , A M , European Phelan-McDermid syndrome guideline consortium , ERN ITHACA Guideline Working Group , Gaasterland , C M W , Haneveld , M J K , van Eeghen , A M , van Eeghen , A M , van Eeghen , A M , van Eeghen , A M , Stemkens , D , Fernández-Fructuoso , J R , Maruani , A , Maruani , A , Maruani , A , Hadzsiev , K , Hadzsiev , K , van Balkom , I D C , van Balkom , I D C , van Balkom ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/306e860d-f7c8-4376-b294-e44ab22d27c0Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104747Test
https://pure.eur.nl/en/publications/306e860d-f7c8-4376-b294-e44ab22d27c0Test
https://pure.eur.nl/ws/files/97358265/1-s2.0-S1769721223000538-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85162852499&partnerID=8YFLogxKTest

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3

دورية أكاديمية

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

المؤلفون: Vitrac, Aline, Leblond, Claire S., Rolland, Thomas, Cliquet, Freddy, Mathieu, Alexandre, Maruani, Anna, Delorme, Richard, Schön, Michael, Grabrucker, Andreas M., van Ravenswaaij-Arts, Conny, Phelan, Katy, Tabet, Anne Claude, Bourgeron, Thomas

المصدر: Vitrac , A , Leblond , C S , Rolland , T , Cliquet , F , Mathieu , A , Maruani , A , Delorme , R , Schön , M , Grabrucker , A M , van Ravenswaaij-Arts , C , Phelan , K , Tabet , A C & Bourgeron , T 2023 , ' Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome ' , European journal of medical genetics , vol. 66 , no. 5 , 104732 . https://doi.org/10.1016/j.ejmg.2023.104732Test

مصطلحات موضوعية: Autism, Brain development, Epilepsy, Neurodevelopmental disorders, Phelan-McDermid syndrome, SHANK3

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/064fa723-abde-4213-9362-b9b722cf05c9Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104732Test
https://hdl.handle.net/11370/064fa723-abde-4213-9362-b9b722cf05c9Test
https://research.rug.nl/en/publications/064fa723-abde-4213-9362-b9b722cf05c9Test
https://pure.rug.nl/ws/files/672101249/Dissecting_the_22q13_region_to_explore_the_genetic_and_phenotypic_diversity_of_patients_with_Phelan_McDermid_syndrome.pdfTest

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4

دورية أكاديمية

Identification of Nanoparticle Properties for Optimal Drug Delivery across a Physiological Cell Barrier

المؤلفون: Ross, Aisling M., Cahalane, Rachel M., Walsh, Darragh R., Grabrucker, Andreas M., Marcar, Lynnette, Mulvihill, John J. E.

المساهمون: Technological University of the Shannon: Midlands Midwest

مصطلحات موضوعية: nanocarriers, cell barrier, characterization, permeability, toxicity, disruption, Department of Applied Science

وصف الملف: application/pdf

العلاقة: Pharmaceutics; Ross, A.M., Cahalane, R.M., Walsh, D.R., Grabrucker, A.M., Marcar, L. & Mulvihill, J.J.E. (2023) Identification of Nanoparticle Properties for Optimal Drug Delivery across a Physiological Cell Barrier, Pharmaceutics, 15(1), pp. 1-16. https://doi.org/10.3390Test/ pharmaceutics15010200; https://research.thea.ie/handle/20.500.12065/4382Test; 16; 15

الإتاحة: https://doi.org/20.500.12065/4382Test
https://research.thea.ie/handle/20.500.12065/4382Test
https://hdl.handle.net/20.500.12065/4382Test

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النص الكامل

5

دورية أكاديمية

Editorial: Interactions of the nervous system with bacteria, volume II

المؤلفون: Hill-Yardin, Elisa L., Grabrucker, Andreas M., Franks, Ashley E.

المصدر: Frontiers in Neuroscience ; volume 17 ; ISSN 1662-453X

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.3389/fnins.2023.1125176Test

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6

دورية أكاديمية

Editorial: Autism spectrum disorders and metal dyshomeostasis, volume II

المؤلفون: Pandey, Mukesh K., Grabrucker, Andreas M., Mehta, Sunil Q.

المصدر: Frontiers in Molecular Neuroscience ; volume 16 ; ISSN 1662-5099

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Molecular Biology

الإتاحة: https://doi.org/10.3389/fnmol.2023.1172769Test

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7

دورية أكاديمية

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

المصدر: American Journal of Human Genetics. 101(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9gc6k2mkTest

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8

دورية أكاديمية

Glioblastoma Multiforme Selective Nanomedicines for Improved Anti-Cancer Treatments

المؤلفون: Duskey J. T., Rinaldi A., Ottonelli I., Caraffi R., De Benedictis C. A., Sauer A. K., Tosi G., Vandelli M. A., Ruozi B., Grabrucker A. M.

المساهمون: Duskey, J. T., Rinaldi, A., Ottonelli, I., Caraffi, R., De Benedictis, C. A., Sauer, A. K., Tosi, G., Vandelli, M. A., Ruozi, B., Grabrucker, A. M.

مصطلحات موضوعية: brain tumour, cancer, drug delivery, drug targeting, glioblastoma, improved chemotherapeutic, nanomedicine, nanoparticle, NMeds

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35890345; info:eu-repo/semantics/altIdentifier/wos/WOS:000833790600001; volume:14; issue:7; firstpage:N/A; lastpage:N/A; journal:PHARMACEUTICS; http://hdl.handle.net/11380/1287255Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137282778

الإتاحة: https://doi.org/10.3390/pharmaceutics14071450Test
http://hdl.handle.net/11380/1287255Test

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