المؤلفون: VALDES SOCIN, Hernan Gonzalo, HARVENGT, Julie, Pintiaux, Axelle, JONAS, Corinne, PARENT, Anne-Simone, Geenen, Vincent, CORMAN, Vinciane, DEBRAY, François-Guillaume, Dideberg, Vinciane, T'sjoen, G, De Leerner, A, Beckers, D, Destree, A, Roland, D, Lederer, D, Boscolo, M, Burlacu, C, VROONEN, Laurent, Bours, Vincent, Maiter, D, Beckers, Albert

المصدر: 35ème Congrès de la Société Française d'Endocrinologie, Nancy, France [FR], 12 au 15 septembre 2018

مصطلحات موضوعية: Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

الوصول الحر: https://orbi.uliege.be/handle/2268/228693Test

المؤلفون: VALDES SOCIN, Hernan Gonzalo, LIBIOULLE, Cécile, HARVENGT, Julie, PINTIAUX, Axelle, JONAS, Corinne, Parent, Anne-Simone, GEENEN, Vincent, CORMAN, Vinciane, Debray, François-Guillaume, DIDEBERG, Vinciane, T'Sjoen, G, De Leerner, A, Beckers, D, Destree, A, Roland, D, Lederer, D, Boscolo, M, Bours, Vincent, Maiter, D, Beckers, Albert

المصدر: 20th European Congress of Endocrinology, 19-22 mai 2018

مصطلحات موضوعية: Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

الوصول الحر: https://orbi.uliege.be/handle/2268/226553Test

المؤلفون: VALDES SOCIN, Hernan Gonzalo, LIBIOULLE, Cécile, HARVENGT, Julie, Pintiaux, Axelle, JONAS, Corinne, PARENT, Anne-Simone, GEENEN, Vincent, CORMAN, Vinciane, Debray, François-Guillaume, DIDEBERG, Vinciane, T'Sjoen, Guy, De Leerner, A, Beckers, D, Destree, A, Roland, D, Lederer, D, Boscolo, M, BOURS, Vincent, Maiter, Dominique, BECKERS, Albert

المساهمون: Service d'Endocrinologie

المصدر: NENEG Abstract Book Communications, 64 (2018-04-19); Northern-European Neuro-Endocrine Group, Aarhus, Denmark [DK], 18-20 avril 2018

مصطلحات موضوعية: kallmann, mutation, hypogonadotropic hypogonadism, brain MRI, anosmia, FGFR1, KISSR, TAC3, TACR3, CHD7, next generation sequencing, Chiari type 1 malformation, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

الوصول الحر: https://orbi.uliege.be/handle/2268/223610Test

المؤلفون: Hanania, N. A., Castro, M., Bateman, E., Pavord, I. D., Papi, A., FitzGerald, J. M., Maspero, J. F., Katelaris, Constance H. (R12307), Singh, D., Daizadeh, N., Altincatal, A., Pandit-Abid, N., Soler, X., Siddiqui, S., Laws, E., Jacob-Nara, J. A., Rowe, P. J., Lederer, D. J., Hardin, M., Deniz, Y.

مصطلحات موضوعية: XXXXXX - Unknown

وصف الملف: print

العلاقة: Annals of Allergy, Asthma and Immunology--1081-1206--1534-4436 Vol. 130 Issue. 2 No. pp: 206-214

الإتاحة: https://doi.org/10.1016/j.anai.2022.10.018Test
https://hdl.handle.net/1959.7/uws:73750Test

المؤلفون: Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 28, 2, 668-697

مصطلحات موضوعية: Neurosciences, Genetics, Pediatric, Clinical Research, Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels, anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences, anzsrc-for: 17 Psychology and Cognitive Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_85769Test; https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest; https://doi.org/10.1038/s41380-022-01852-9Test

الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
http://hdl.handle.net/1959.4/unsworks_85769Test
https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest

المؤلفون: Faiz, A., Mahbub, R.M., Boedijono, F.S., Tomassen, M.I., Kooistra, W., Timens, W., Nawijn, M., Hansbro, P.M., Johansen, M.D., Pouwels, S.D., Heijink, I.H., Massip, F., de Biase, M.S., Schwarz, R.F., Adcock, I.M., Chung, K.F., van der Does, A., Hiemstra, P.S., Goulaouic, H., Xing, H., Abdulai, R., de Rinaldis, E., Cunoosamy, D., Harel, S., Lederer, D., Nivens, M.C., Wark, P.A., Kerstjens, H.A.M., Hylkema, M.N., Brandsma, C.A., van den Berge, M.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/23729/1/23729oa.pdfTest; http://edoc.mdc-berlin.de/23729/2/23729suppl.zipTest; IL-33 expression is lower in current smokers at both transcriptomic and protein level. Faiz, A. and Mahbub, R.M. and Boedijono, F.S. and Tomassen, M.I. and Kooistra, W. and Timens, W. and Nawijn, M. and Hansbro, P.M. and Johansen, M.D. and Pouwels, S.D. and Heijink, I.H. and Massip, F. and de Biase, M.S. and Schwarz, R.F. and Adcock, I.M. and Chung, K.F. and van der Does, A. and Hiemstra, P.S. and Goulaouic, H. and Xing, H. and Abdulai, R. and de Rinaldis, E. and Cunoosamy, D. and Harel, S. and Lederer, D. and Nivens, M.C. and Wark, P.A. and Kerstjens, H.A.M. and Hylkema, M.N. and Brandsma, C.A. and van den Berge, M. American Journal of Respiratory and Critical Care Medicine 208 (10): 1075-1087. 15 November 2023

الإتاحة: https://doi.org/10.1164/rccm.202210-1881OCTest
http://edoc.mdc-berlin.de/23729Test/
https://edoc.mdc-berlin.de/23729Test/
http://edoc.mdc-berlin.de/23729/1/23729oa.pdfTest
http://edoc.mdc-berlin.de/23729/2/23729suppl.zipTest

المؤلفون: Johannesen K. M., Iqbal S., Guazzi M., Mohammadi N. A., Perez-Palma E., Schaefer E., De Saint Martin A., Abiwarde M. T., McTague A., Pons R., Piton A., Kurian M. A., Ambegaonkar G., Firth H., Sanchis-Juan A., Deprez M., Jansen K., De Waele L., Briltra E. H., Verbeek N. E., van Kempen M., Fazeli W., Striano P., Zara F., Visser G., Braakman H. M. H., Haeusler M., Elbracht M., Vaher U., Smol T., Lemke J. R., Platzer K., Kennedy J., Klein K. M., Au P. Y. B., Smyth K., Kaplan J., Thomas M., Dewenter M. K., Dinopoulos A., Campbell A. J., Lal D., Lederer D., Liao V. W. Y., Ahring P. K., Moller R. S., Gardella E.

المساهمون: Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., Mctague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., Verbeek, N. E., van Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, T., Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Moller, R. S., Gardella, E.

مصطلحات موضوعية: Epilepsy, GABA, GABRB3, Genetic, Mapping, Genetic Association Studie, Human, Mutation, Phenotype, Receptors, GABA-A, Intellectual Disability

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34906499; info:eu-repo/semantics/altIdentifier/wos/WOS:000797902900012; volume:24; firstpage:681; lastpage:693; numberofpages:13; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11567/1080620Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121571914

الإتاحة: https://doi.org/10.1016/j.gim.2021.11.004Test
http://hdl.handle.net/11567/1080620Test

المؤلفون: Balasubramanian, M., Lee, S., Ochoa, E., Badura-Stronka, M., Donnelly, D., Lederer, D., Lynch, S., Gardham, A., Morton, J., Stewart, H., Docquier, F., Rodger, F., Martin, J., Toribio, A., Maher, E.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/208873/8/53110d3c-f7db-4bbf-a5cb-a480274b1783.pdfTest; Balasubramanian, M., Lee, S., Ochoa, E. et al. (13 more authors) (Submitted: 2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. [Preprint - Research Square Platform LLC] (Submitted)

الإتاحة: https://doi.org/10.21203/rs.3.rs-2653174/v1Test
https://eprints.whiterose.ac.uk/208873Test/
https://eprints.whiterose.ac.uk/208873/8/53110d3c-f7db-4bbf-a5cb-a480274b1783.pdfTest

المؤلفون: Loberti, L. (Lorenzo), Bruno, L. P. (Lucia Pia), Granata, S. (Stefania), Doddato, G. (Gabriella), Resciniti, S. (Sara), Fava, F. (Francesca), Carullo, M. (Michele), Rahikkala, E. (Elisa), Jouret, G. (Guillaume), Menke, L. A. (Leonie A.), Lederer, D. (Damien), Vrielynck, P. (Pascal), Ryba, L. (Lukáš), Brunetti-Pierri, N. (Nicola), Lasa-Aranzasti, A. (Amaia), Cueto-González, A. M. (Anna Maria), Trujillano, L. (Laura), Valenzuela, I. (Irene), Tizzano, E. F. (Eduardo F.), Spinelli, A. M. (Alessandro Mauro), Bruno, I. (Irene), Currò, A. (Aurora), Stanzial, F. (Franco), Benedicenti, F. (Francesco), Lopergolo, D. (Diego), Santorelli, F. M. (Filippo Maria), Aristidou, C. (Constantia), Tanteles, G. A. (George A.), Maystadt, I. (Isabelle), Tkemaladze, T. (Tinatin), Reimand, T. (Tiia), Lokke, H. (Helen), Õunap, K. (Katrin), Haanpää, M. K. (Maria K.), Holubová, A. (Andrea), Zoubková, V. (Veronika), Schwarz, M. (Martin), Žordania, R. (Riina), Muru, K. (Kai), Roht, L. (Laura), Tihveräinen, A. (Annika), Teek, R. (Rita), Thomson, U. (Ulvi), Atallah, I. (Isis), Superti-Furga, A. (Andrea), Buoni, S. (Sabrina), Canitano, R. (Roberto), Scandurra, V. (Valeria), Rossetti, A. (Annalisa), Grosso, S. (Salvatore), Battini, R. (Roberta), Baldassarri, M. (Margherita), Mencarelli, M. A. (Maria Antonietta), Lo Rizzo, C. (Caterina), Bruttini, M. (Mirella), Mari, F. (Francesca), Ariani, F. (Francesca), Renieri, A. (Alessandra), Pinto, A. M. (Anna Maria)

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022102763568Test

المؤلفون: Loberti, L., Bruno, L.P., Granata, S., Doddato, G., Resciniti, S., Fava, F., Carullo, M., Rahikkala, E., Jouret, G., Menke, L.A., Lederer, D., Vrielynck, P., Ryba, L., Brunetti-Pierri, N., Lasa-Aranzasti, A., Cueto-González, A.M., Trujillano, L., Valenzuela, I., Tizzano, E.F., Spinelli, A.M., Bruno, I., Currò, A., Stanzial, F., Benedicenti, F., Lopergolo, D., Santorelli, F.M., Aristidou, C., Tanteles, G.A., Maystadt, I., Tkemaladze, T., Reimand, T., Lokke, H., Õunap, K., Haanpää, M.K., Holubová, A., Zoubková, V., Schwarz, M., Žordania, R., Muru, K., Roht, L., Tihveräinen, A., Teek, R., Thomson, U., Atallah, I., Superti-Furga, A., Buoni, S., Canitano, R., Scandurra, V., Rossetti, A., Grosso, S., Battini, R., Baldassarri, M., Mencarelli, M.A., Rizzo, C.L., Bruttini, M., Mari, F., Ariani, F., Renieri, A., Pinto, A.M.

المصدر: Human molecular genetics, vol. 31, no. 24, pp. 4131-4142

مصطلحات موضوعية: Pregnancy, Female, Humans, Facies, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Comparative Genomic Hybridization, Repressor Proteins/genetics, Phenotype, Dwarfism/genetics, European People

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD40BBEC41D30; https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test

الإتاحة: https://doi.org/10.1093/hmg/ddac167Test
https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test
https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test