المؤلفون: Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/316410

المؤلفون: Niestroj, LM, Perez-Palma, E, Howrigan, DP, Zhou, Y, Cheng, F, Saarentaus, E, Nürnberg, P, Stevelink, R, Daly, MJ, Palotie, A, Lal, D, Feng, YCA, Abbott, LE, Tashman, K, Cerrato, F, Churchhouse, C, Gupta, N, Neale, BM, Berkovic, SF, Lerche, H, Goldstein, DB, Lowenstein, DH, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Leu, C, Bennett, CA, Bellows, Susannah, Johns, EMC, MacDonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Šterbová, K, Vlcková, M, Sedlácková, L, Laššuthová, P, Martin, K, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, Van Baalen, A, Von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Müller-Schlüter, K, Kluger, G, Häusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F

مصطلحات الفهرس: copy number variation, developmental and epileptic encephalopathy, epilepsy, focal epilepsy, genetic generalized epilepsy, Epi25 Collaborative, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30162404
https://academic.oup.com/brain/article-pdf/143/7/2106/33502843/awaa171.pdf
http://doi.org/10.1093/brain/awaa171
http://elements.deakin.edu.au/viewobject.html?id=293550&cid=1
issn: 0006-8950
issn: 1460-2156
https://academic.oup.com/brain/article-pdf/143/7/2106/33502843/awaa171.pdf
http://doi.org/10.1093/brain/awaa171
http://elements.deakin.edu.au/viewobject.html?id=293550&cid=1
Brain

المؤلفون: MacKenzie, KC, de Graaf, BM, Syrimis, A, Zhao, Y, Brosens, E, Mancini, GMS, Schot, R, Halley, D, Wilke, M, Vollo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, RMW, Jongbloed, JDH, Nicolaou, N, Tanteles, GA, Brooks, AS, Alves, MM

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/252587

المؤلفون: MacKenzie, Katherine, de Graaf, Bianca, Syrimis, A, Zhao, Yuying, Brosens, Erwin, Verheijen - Mancini, Grazia, Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, Robert, Jongbloed, JD, Nicolaou, N, Tanteles, GA, Brooks, Alice, Alves, Maria

المصدر: MacKenzie , K , de Graaf , B , Syrimis , A , Zhao , Y , Brosens , E , Verheijen - Mancini , G , Schot , R , Halley , D , Wilke , M , Vøllo , A , Flinter , F , Green , A , Mansour , S , Pilch , J , Stark , Z , Zamba-Papanicolaou , E , Christophidou-Anastasiadou , V , Hofstra , R , Jongbloed , JD , Nicolaou , N , Tanteles , GA , Brooks , A & Alves , M 2020 , ' Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP ' , Human Mutation , vol. 41 , no. 11 , pp. 1906-1917 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, article

URL: https://pure.eur.nl/en/publications/da59aff7-26ab-44b4-a019-1afe7e50a8c3

المؤلفون: Toumba, M, Neocleous, V, Fanis, P, Tanteles, GA, Kyriakidou-Himonas, M, Picolos, M

المصدر: Hippokratia

مصطلحات موضوعية: endocrine system, endocrine system diseases, Case Report

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::13db5604f14983073b588ad1eca4bb1a
https://europepmc.org/articles/PMC7307508/

المؤلفون: Dixit, A, McKee, S, Mansour, S, Mehta, SG, Tanteles, GA, Anastasiadou, V, Patsalis, PC, Martin, K, McCullough, S, Suri, M, Sarkar, A

المصدر: Clinical Genetics; Feb2013, Vol. 83 Issue 2, p155-161, 7p, 1 Black and White Photograph, 2 Charts, 1 Graph

مصطلحات موضوعية: PHENOTYPES, WILLIAMS syndrome, AUTISM, MUSCLE dysmorphia, EYEBROWS, LIPS, GENETICS

المؤلفون: Talbot CJ, Tanteles GA, Barnett GC, Burnet NG, Chang-Claude J, Coles CE, Davidson S, Dunning AM, Mills J, Murray RJ, Popanda O, Seibold P, West CM, Yarnold JR, Symonds RP, Talbot, C J, Tanteles, G A, Barnett, G C, Burnet, N G, Chang-Claude, J

المصدر: British Journal of Cancer; 8/7/2012, Vol. 107 Issue 4, p748-753, 6p

المؤلفون: Liampas A; Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. liampasand@gmail.com., Nicolaou P; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Votsi C; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Georghiou A; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Christodoulou K; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Tanteles GA; Medical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Pantzaris M; Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

المصدر: Molecular biology reports [Mol Biol Rep] 2024 Apr 29; Vol. 51 (1), pp. 590. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Acyltransferases*/genetics , Cerebellar Ataxia*/genetics , Hypogonadism*/genetics , Retinal Dystrophies*/genetics, Adult ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense/genetics ; Pedigree ; Phospholipases/genetics ; Siblings ; Spinocerebellar Ataxias/genetics

SCR Disease Name: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism

المؤلفون: Georgiou T; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Petrou PP; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Malekkou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Ioannou I; Paediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Gavatha M; Paediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Skordis N; School of Medicine, University of Nicosia, Nicosia, Cyprus., Nicolaidou P; Basic and Clinical Sciences Department, University of Nicosia Medical School, Nicosia, Cyprus., Savvidou I; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Athanasiou E; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Ourani S; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Papamichael E; Neonatal Intensive Care Unit, Archbishop Makarios III Hospital, Nicosia, Cyprus., Vogazianos M; Centre for Preventive Paediatrics 'Americos Argyriou', Limassol, Cyprus., Dionysiou M; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Mavrikiou G; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Grafakou O; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.; Inborn Errors of Metabolism Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Tanteles GA; Basic and Clinical Sciences Department, University of Nicosia Medical School, Nicosia, Cyprus.; Clinical Genetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Anastasiadou V; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Drousiotou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Apr 23; Vol. 39, pp. 101083. Date of Electronic Publication: 2024 Apr 23 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Fanis P; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Skordis N; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Division of Paediatric Endocrinology, Paedi Center for specialized Paediatrics, Nicosia, Cyprus.; School of Medicine, University of Nicosia, Nicosia, Cyprus., Toumba M; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Department of Paediatrics, Paediatric Endocrinology Clinic, Aretaeio Hospital, Nicosia, Cyprus., Picolos M; Department of Endocrinology, Alithias Endocrinology Center, Nicosia, Cyprus., Tanteles GA; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Neocleous V; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Phylactou LA; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 May 31; Vol. 14, pp. 1156616. Date of Electronic Publication: 2023 May 31 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/genetics , Adrenal Hyperplasia, Congenital*/diagnosis, Male ; Pregnancy ; Female ; Humans ; Steroid 21-Hydroxylase/genetics ; DNA Copy Number Variations ; Haplotypes ; Heterozygote