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1دورية أكاديمية
المؤلفون: Christensen, MB, Levy, AM, Mohammadi, NA, Niceta, M, Kaiyrzhanov, R, Dentici, ML, Al Alam, C, Alesi, V, Benoit, V, Bhatia, KP, Bierhals, T, Boßelmann, CM, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, TB, Hammer, TB, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, MY, Moudi, M, Müller, AJ, Oostra, AJ, Pletcher, BA, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, MS, Zech, M, Lerche, H, Radio, FC, Gomez-Puertas, P, Møller, RS, Tümer, Z
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.ms-excel
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docxTest; https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsxTest; Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; et al. Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; Bierhals, T; Boßelmann, CM; Buratti, J; Callewaert, B; Ceulemans, B; Charles, P; De Wachter, M; Dehghani, M; D'haenens, E; Doco-Fenzy, M; Geßner, M; Gobert, C; Guliyeva, U; Haack, TB; Hammer, TB; Heinrich, T; Hempel, M; Herget, T; Hoffmann, U; Horvath, J; Houlden, H; Keren, B; Kresge, C; Kumps, C; Lederer, D; Lermine, A; Magrinelli, F; Maroofian, R; Vahidi Mehrjardi, MY; Moudi, M; Müller, AJ; Oostra, AJ; Pletcher, BA; Ros-Pardo, D; Samarasekera, S; Tartaglia, M; Van Schil, K; Vogt, J; Wassmer, E; Winkelmann, J; Zaki, MS; Zech, M; Lerche, H; Radio, FC; Gomez-Puertas, P; Møller, RS; Tümer, Z (2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin Genet, 102 (2). pp. 98-109. ISSN 1399-0004 https://doi.org/10.1111/cge.14165Test SGUL Authors: Maroofian, Reza
الإتاحة: https://doi.org/10.1111/cge.14165Test
https://openaccess.sgul.ac.uk/id/eprint/114577Test/
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docxTest
https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsxTest -
2دورية أكاديمية
المؤلفون: Bayat, A, Kløvgaard, M, Johannesen, KM, Barakat, Stefan, Kievit, Anneke, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, Marjon, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G, Møller, RS
المصدر: Bayat , A , Kløvgaard , M , Johannesen , KM , Barakat , S , Kievit , A , Montomoli , M , Parrini , E , Pietrafusa , N , Schelhaas , J , van Slegtenhorst , M , Miya , K , Guerrini , R , Tranebjærg , L , Tümer , Z , Rubboli , G & Møller , RS 2021 , ' Deciphering the premature mortality in PIGA-CDG – An untold story ' , Epilepsy Research , vol. 170 , 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1016/j.eplepsyres.2020.106530Test
https://pure.eur.nl/en/publications/687ae827-746d-489d-849b-2a75a89aecffTest
http://www.scopus.com/inward/record.url?scp=85099969537&partnerID=8YFLogxKTest
https://findresearcher.sdu.dk/ws/files/181483403/PIGA.pdfTest -
3دورية أكاديمية
المؤلفون: Oliva-Teles, N, De Stefano, MC, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, AJ, Kodra, Y, Skuse, D
المصدر: International Journal of Environmental Research and Public Health , 17 (24) , Article 9253. (2020)
مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, copy numbers variants, neurodevelopmental disorders, rare diseases
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118488/1/ijerph-17-09253-v2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118488Test/
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4دورية أكاديمية
المؤلفون: Krab, L.C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J.B., Bisgaard, A.-M., Fitzpatrick, D.R., Gudmundsson, S., Huisman, S.A., Kalayci, T., Maas, S.M., Martinez, F., McKee, S., Menke, L.A., Mulder, P.A., Murch, O.D., Parker, M., Pie, J., Ramos, F.J., Rieubland, C., Rosenfeld Mokry, J.A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Tümer, Z., Hennekam, R.C.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/159666/1/Krab2020_Article_DelineationOfPhenotypesAndGeno.pdfTest; Krab, L.C., Marcos-Alcalde, I., Assaf, M. et al. (23 more authors) (2020) Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human Genetics, 139. pp. 575-592. ISSN 0340-6717
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5دورية أكاديمية
المؤلفون: Oppermann, H., Marcos-Grañeda, E., Weiss, L.A., Gurnett, C.A., Jelsig, A.M., Vineke, S.H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A.T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L.M., Semina, E.V., Reuter, M.S., Scherer, S.W., Iascone, M., Weis, D., Fagerberg, C.R., Brasch-Andersen, C., Hansen, L.K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T.B., Pavlidou, D.C., Atallah, I., Vodopiutz, J., Janecke, A.R., Hsieh, T.C., Lesmann, H., Klinkhammer, H., Krawitz, P.M., Lemke, J.R., Jamra, R.A., Nieto, M., Tümer, Z., Platzer, K.
المصدر: European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
مصطلحات موضوعية: Adult, Animals, Humans, Mice, Heterozygote, Homeodomain Proteins/genetics, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Phenotype, Repressor Proteins/genetics, Seizures, Transcription Factors/genetics, Transcription Factors/metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644171; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest; urn:issn:1018-4813
الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest -
6دورية أكاديمية
المؤلفون: Slipsager, A., Hildonen, M., Stemmerik, M Godtfeldt, Tümer, Z., Dunø, M., Birkedal, U., Vissing, J.
المصدر: Neuromuscular Disorders ; volume 33, page S155 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.350Test
https://api.elsevier.com/content/article/PII:S0960896623005308?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623005308?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.
المصدر: Eur. J. Hum. Genet. 27, 278-290 (2019)
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30291340; info:eu-repo/semantics/altIdentifier/wos/WOS:000455983900013; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54514Test; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438
الإتاحة: https://doi.org/10.1038/s41431-018-0281-5Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54514Test -
8دورية أكاديمية
المؤلفون: Brioude, F, Kalish, JM, Mussa, A, Foster, AC, Bliek, J, Ferrero, GB, Boonen, SE, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, MD, Krajewska-Walasek, M, Kratz, CP, Ladusans, EJ, Lapunzina, P, Le Bouc, Y, Maas, SM, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, RC, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, DJG, Riccio, A, Maher, ER
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest; Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; et al. Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; Cocchi, G; Coze, C; De Pellegrin, M; Hussain, K; Ibrahim, A; Kilby, MD; Krajewska-Walasek, M; Kratz, CP; Ladusans, EJ; Lapunzina, P; Le Bouc, Y; Maas, SM; Macdonald, F; Õunap, K; Peruzzi, L; Rossignol, S; Russo, S; Shipster, C; Skórka, A; Tatton-Brown, K; Tenorio, J; Tortora, C; Grønskov, K; Netchine, I; Hennekam, RC; Prawitt, D; Tümer, Z; Eggermann, T; Mackay, DJG; Riccio, A; Maher, ER (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol, 14 (4). pp. 229-249. ISSN 1759-5037 https://doi.org/10.1038/nrendo.2017.166Test SGUL Authors: Tatton-Brown, Katrina Louise
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9دورية أكاديمية
المؤلفون: Wakeling, E. (Emma), Brioude, F. (Frédéric), Lokulo-Sodipe, O. (Oluwakemi), O'Connell, S.M. (Susan M.), Salem, J. (Jennifer), Bliek, J. (Jet), Canton, A.P.M. (Ana P. M.), Chrzanowska, K.H. (Krystyna), Davies, J.H. (Justin H.), Dias, R.P. (Renuka), Dubern, B. (Béatrice), Elbracht, M. (Miriam), Giabicani, E. (Eloise), Grimberg, A., Grønskov, K. (Karen), Hokken-Koelega, A.C.S. (Anita), Jorge, A. (Alexander), Kagami, M. (Masayo), Linglart, A. (Agnes), Maghnie, M. (Mohamad), Mohnike, K. (Klaus), Monk, A.B. (Alastair), Moore, G.E. (Gudrun E.), Murray, P.G. (Philip G.), Ogata, T. (Tsutomu), Petit, I.O. (Isabelle Oliver), Russo, S. (Sascha), Said, E. (Edith), Toumba, M. (Meropi), Tümer, Z., Binder, G. (Gerhard), Eggermann, T. (Thomas), Harbison, M.D. (Madeleine D.), Temple, I.K., Mackay, D.M. (Deborah), Netchine, I. (Irène)
المصدر: Nature Reviews Endocrinology vol. 13 no. 2, pp. 105-124
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/108227Test; urn:hdl:1765/108227
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10دورية أكاديمية
المؤلفون: Cornelius, N, Wardman, JH, Hargreaves, IP, Neergheen, V, Bie, AS, Tümer, Z, Nielsen, JE, Nielsen, TT
مصطلحات موضوعية: QH426 Genetics
وصف الملف: text
العلاقة: https://researchonline.ljmu.ac.uk/id/eprint/8734/9/Evidence%20of%20oxidative%20stress%20and%20mitochondrial%20dysfunction%20in%20spinocerebellar%20ataxia%20type%202%20%28SCA2%29%20patient%20fibroblasts%20Effect%20of%20Coenzyme%20Q10%20supplementation%20on%20these%20parameters.pdfTest; Cornelius, N, Wardman, JH, Hargreaves, IP, Neergheen, V, Bie, AS, Tümer, Z, Nielsen, JE and Nielsen, TT (2017) Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters. Mitochondrion, 34. pp. 103-114. ISSN 1567-7249
الإتاحة: https://doi.org/10.1016/j.mito.2017.03.001Test
http://researchonline.ljmu.ac.uk/id/eprint/8734Test/
https://researchonline.ljmu.ac.uk/id/eprint/8734/9/Evidence%20of%20oxidative%20stress%20and%20mitochondrial%20dysfunction%20in%20spinocerebellar%20ataxia%20type%202%20%28SCA2%29%20patient%20fibroblasts%20Effect%20of%20Coenzyme%20Q10%20supplementation%20on%20these%20parameters.pdfTest
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