المؤلفون: Kühnen, P, Argente, J, Clément, K, Dollfus, H, Dubern, B, Farooqi, S, de Groot, C, Grüters, A, Holm, JC, Hopkins, M, Kleinendorst, L, Körner, A, Meeker, D, Rydén, M, von Schnurbein, J, Tschöp, M, Yeo, GSH, Zorn, S, Wabitsch, M

المصدر: Clinical obesity. 14(3):e12659

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:238602039Test

المؤلفون: Kühnen, P., Argente, J., Clément, K., Dollfus, H., Dubern, B., Farooqi, S., de Groot, C., Grüters, A., Holm, J., Hopkins, M., Kleinendorst, L., Körner, A., Meeker, D., Rydén, M., von Schnurbein, J., Tschöp, M., Yeo, G.S.H., Zorn, S., Wabitsch, M.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/211486/3/Clinical%20Obesity%20-%202024%20-%20K%C3%BChnen%20-%20IMPROVE%202022%20International%20Meeting%20on%20Pathway%E2%80%90Related%20Obesity%20%20Vision%20of%20Excellence.pdfTest; Kühnen, P., Argente, J., Clément, K. et al. (16 more authors) (2024) IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence. Clinical Obesity. e12659. ISSN 1758-8103

الإتاحة: https://eprints.whiterose.ac.uk/211486Test/
https://eprints.whiterose.ac.uk/211486/3/Clinical%20Obesity%20-%202024%20-%20K%C3%BChnen%20-%20IMPROVE%202022%20International%20Meeting%20on%20Pathway%E2%80%90Related%20Obesity%20%20Vision%20of%20Excellence.pdfTest

المؤلفون: Gouronc, A. (Aurélie), Javey, E. (Elodie), Leuvrey, A. (Anne-Sophie), Nourisson, E. (Elsa), Friedmann, S. (Sylvie), Reichert, V. (Valérie), Derive, N. (Nicolas), Francannet, C. (Christine), Keren, B. (Boris), Lévy, J. (Jonathan), Planes, M. (Marc), Ruaud, L. (Lyse), Amiel, J. (Jeanne), Dollfus, H. (Hélène), Scheidecker, S. (Sophie), Muller, J. (Jean)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الإتاحة: https://www.hindawi.com/journals/humu/2023/2564200Test/

المؤلفون: Mancuso, M, Lopriore, P, Lamperti, C, Klopstock, T, Rahman, S, Licchetta, L, Kornblum, C, Wortmann, SB, Dollfus, H, Papadopoulou, MT, Arzimanoglou, A, Scarpa, M, Graessner, H, Evangelista, T

المصدر: Journal of Neurology (2023) (In press).

مصطلحات موضوعية: Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, Survey

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179602/1/s00415-023-12017-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10179602Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179602/1/s00415-023-12017-1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10179602Test/

المؤلفون: Forsythe, E, Haws, RM, Argente, J, Beales, P, Martos-Moreno, G, Dollfus, H, Chirila, C, Gnanasakthy, A, Buckley, BC, Mallya, UG, Clément, K, Haqq, AM

المصدر: Orphanet Journal of Rare Diseases , 18 (1) , Article 12. (2023)

مصطلحات موضوعية: BBS, Genetic obesity, IWQOL-Lite, PedsQL, Quality of life, Setmelanotide, Adolescent, Adult, Humans, Child, Bardet-Biedl Syndrome, Obesity, Hyperphagia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10164208/1/s13023-022-02602-4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10164208Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10164208/1/s13023-022-02602-4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10164208Test/

المؤلفون: Hoornaert, KP, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, FA, Leroy, JG, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dieux-Coeslier, A, Dollfus, H, Elting, M, Green, A, Guerci, VI, Hennekam, RCM, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, KJ, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, YH, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, KOJ, Smithson, SF, Temple, KI, Van Aken, E, Van Bever, Y, van den Ende, J, Van Hagen, JM, Zelante, L, Zordania, R, De Paepe, A, Leroy, BP, De Buyzere, M, Coucke, PJ, Mortier, GR

المصدر: European journal of human genetics : EJHG. 18(8):872-880

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121050081Test

المؤلفون: Dormegny L, Velizarova R, Schroder CM, Kilic-Huck U, Comtet H, Dollfus H, Bourgin P, Ruppert E

المصدر: Nature and Science of Sleep, Vol Volume 13, Pp 1913-1919 (2021)

مصطلحات موضوعية: bardet-biedl syndrome, ciliopathy, sleep disordered breathing, sleep apnea syndrome, chronotype, circadian rhythm sleep wake disorder, Psychiatry, RC435-571, Neurophysiology and neuropsychology, QP351-495

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/sleep-disordered-breathing-quality-of-sleep-and-chronotype-in-a-cohort-peer-reviewed-fulltext-article-NSSTest; https://doaj.org/toc/1179-1608Test

الوصول الحر: https://doaj.org/article/5529b25edba34c98925711b8a30afd12Test

المؤلفون: Poncet, A.F., Grunewald, O., Vaclavik, V., Meunier, I., Drumare, I., Pelletier, V., Bocquet, B., Todorova, M.G., Le Moing, A.G., Devos, A., Schorderet, D.F., Jobic, F., Defoort-Dhellemmes, S., Dollfus, H., Smirnov, V.M., Dhaenens, C.M.

المصدر: International journal of molecular sciences, vol. 23, no. 8, pp. 4294

مصطلحات موضوعية: Exons/genetics, Homozygote, Humans, Membrane Transport Proteins/genetics, Mutation, Neuronal Ceroid-Lipofuscinoses/genetics, Retinal Dystrophies/genetics, MFSD8 gene, deep intronic variant, isolated macular dystrophy, neuronal ceroid lipofuscinosis, transcript analysis

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35457110; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DA25ACED4D13; https://serval.unil.ch/notice/serval:BIB_5DA25ACED4D1Test; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_5DA25ACED4D1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DA25ACED4D13Test

الإتاحة: https://doi.org/10.3390/ijms23084294Test
https://serval.unil.ch/notice/serval:BIB_5DA25ACED4D1Test
https://serval.unil.ch/resource/serval:BIB_5DA25ACED4D1.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DA25ACED4D13Test

المؤلفون: Forde, C, Burkitt-Wright, E, Turnpenny, PD, Haan, E, Ealing, J, Mansour, S, Holder, M, Lahiri, N, Dixit, A, Procter, A, Pacot, L, Vidaud, D, Capri, Y, Gerard, M, Dollfus, H, Schaefer, E, Quelin, C, Sigaudy, S, Busa, T, Vera, G, Damaj, L, Messiaen, L, Stevenson, DA, Davies, P, Palmer-Smith, S, Callaway, A, Wolkenstein, P, Pasmant, E, Upadhyaya, M

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest; Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; et al. Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; Pacot, L; Vidaud, D; Capri, Y; Gerard, M; Dollfus, H; Schaefer, E; Quelin, C; Sigaudy, S; Busa, T; Vera, G; Damaj, L; Messiaen, L; Stevenson, DA; Davies, P; Palmer-Smith, S; Callaway, A; Wolkenstein, P; Pasmant, E; Upadhyaya, M (2022) Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Eur J Hum Genet, 30 (3). pp. 291-297. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01015-4Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1038/s41431-021-01015-4Test
https://openaccess.sgul.ac.uk/id/eprint/113939Test/
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest

المؤلفون: Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H, ERN_EYE Study Group, Suppiej, Agnese, Parmeggiani, Francesco

المساهمون: Black, Gc, Sergouniotis, P, Sodi, A, Leroy, Bp, Van Cauwenbergh, C, Liskova, P, Grønskov, K, Klett, A, Kohl, S, Taurina, G, Sukys, M, Haer-Wigman, L, Nowomiejska, K, Marques, Jp, Leroux, D, Cremers, Fpm, De Baere, E, Dollfus, H, ERN_EYE Study, Group, Suppiej, Agnese, Parmeggiani, Francesco

مصطلحات موضوعية: ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseases

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33743793; info:eu-repo/semantics/altIdentifier/wos/WOS:000631539300005; volume:16; issue:1; firstpage:142; lastpage:149; numberofpages:8; journal:ORPHANET JOURNAL OF RARE DISEASES; info:eu-repo/grantAgreement/EC/H2020/739534; http://hdl.handle.net/11392/2455701Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103229807; https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-xTest

الإتاحة: https://doi.org/10.1186/s13023-021-01756-xTest
http://hdl.handle.net/11392/2455701Test