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المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers
المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)
المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test -
2دورية أكاديمية
المؤلفون: Schuurs-Hoeijmakers, Janneke H. M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I. G. M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Holler, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riyad, Kremer, Hubertus P. H., van de Warrenburg, Bart P., van den Akker, Willem M. R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Eramus, Corrie E., Willemsen, Michel A., Vissers, Lisenka E. L. M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B. A., de Brouwer, Arjan P. M.
المصدر: Schuurs-Hoeijmakers , J H M , Geraghty , M T , Kamsteeg , E-J , Ben-Salem , S , de Bot , S T , Nijhof , B , van de Vondervoort , I I G M , van der Graaf , M , Nobau , A C , Otte-Holler , I , Vermeer , S , Smith , A C , Humphreys , P , Schwartzentruber , J , Ali , B R , Al-Yahyaee , S A , Tariq , S , Pramathan , T , Bayoumi , R , Kremer , H P H , van ....
مصطلحات موضوعية: MAMMALIAN SEC23P-INTERACTING PROTEIN, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, NEUROMUSCULAR-JUNCTION, SEQUENCING DATA, DROSOPHILA, TRAFFICKING, PLASTICITY, KIAA0725P, PATHWAY
الإتاحة: https://doi.org/10.1016/j.ajhg.2012.10.017Test
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test
https://research.rug.nl/en/publications/c11479df-ed8e-482b-82c3-b39478a237f1Test