المؤلفون: Paneque, M., O´Shea, R., Narravula, A., Siglen, E., Ciuca, A., Abulí, A., Serra-Juhé, C.

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01552-8
https://www.nature.com/articles/s41431-024-01552-8.pdf
https://www.nature.com/articles/s41431-024-01552-8

المؤلفون: Paneque, M., O´Shea, R., Narravula, A., Siglen, E., Ciuca, A., Abulí, A., Serra-Juhé, C.

المصدر: European Journal of Human Genetics ; volume 32, issue 11, page 1515-1515 ; ISSN 1018-4813 1476-5438

الاتاحة: https://doi.org/10.1038/s41431-024-01571-5
https://www.nature.com/articles/s41431-024-01571-5.pdf
https://www.nature.com/articles/s41431-024-01571-5

المؤلفون: Serra-Juhé, C., Martos-Moreno, G., Bou de Pieri, F., Flores, R., Chowen, J.A., Pérez-Jurado, L.A., Argente, J.

المصدر: http://dx.doi.org/10.1038/s41366-019-0357-5.

مصطلحات موضوعية: Humans, Cohort Studies, Heterozygote, Mutation, Adolescent, Adult, Child, Preschool, Female, Male, Genetic Variation, Young Adult, Pediatric Obesity

وصف الملف: application/pdf

Relation: International Journal of Obesity, 2020; 44(4):830-841; http://hdl.handle.net/2440/119142

الاتاحة: http://hdl.handle.net/2440/119142
https://doi.org/10.1038/s41366-019-0357-5

المؤلفون: Moldovan, R, McGhee, KA, Coviello, D, Hamang, A, Inglis, A, Ingvoldstad Malmgren, C, Johansson-Soller, M, Laurino, M, Meiser, B, Murphy, L, Paneque, M, Papsuev, O, Pawlak, J, Rovira Moreno, E, Serra-Juhe, C, Shkedi-Rafid, S, Laing, N, Voelckel, MA, Watson, M, Austin, JC

المصدر: urn:ISSN:1552-4841 ; urn:ISSN:1552-485X ; American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 180, 8, 523-532

مصطلحات موضوعية: Clinical Research, 3 Good Health and Well Being, Genetic Counseling, Humans, Mental Disorders, psychiatric disorders, psychiatric genetic counseling, anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences, anzsrc-for: 1109 Neurosciences

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_64555; https://unsworks.unsw.edu.au/bitstreams/3cf94da5-2838-4eab-8fd1-0c24a13b8690/download; https://doi.org/10.1002/ajmg.b.32735

الاتاحة: http://hdl.handle.net/1959.4/unsworks_64555
https://unsworks.unsw.edu.au/bitstreams/3cf94da5-2838-4eab-8fd1-0c24a13b8690/download
https://doi.org/10.1002/ajmg.b.32735

المؤلفون: Pestoff, R., Moldovan, R., Cordier, C., Serra‐Juhé, C., Paneque, M., Ingvoldstad, C. M.

المساهمون: Linköpings Universitet

المصدر: Clinical Genetics ; volume 93, issue 4, page 891-898 ; ISSN 0009-9163 1399-0004

الاتاحة: https://doi.org/10.1111/cge.13197
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13197
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13197

المؤلفون: Serra-Juhé, C., Cuscó, I., Homs, A., Flores, R., Torán, N., Pérez-Jurado, L.A.

المصدر: http://dx.doi.org/10.1080/15592294.2014.998536.

مصطلحات موضوعية: Congenital heart disease, Down syndrome, DNA methylation, epimutation, heart malformation

وصف الملف: application/pdf

Relation: Epigenetics, 2015; 10(2):167-177; http://hdl.handle.net/2440/120913

الاتاحة: http://hdl.handle.net/2440/120913
https://doi.org/10.1080/15592294.2014.998536

المؤلفون: Sailani, M.R., Makrythanasis, P., Valsesia, A., Santoni, F.A., Deutsch, S., Popadin, K., Borel, C., Migliavacca, E., Sharp, A.J., Duriaux Sail, G., Falconnet, E., Rabionet, K., Serra-Juhé, C., Vicari, S., Laux, D., Grattau, Y., Dembour, G., Megarbane, A., Touraine, R., Stora, S., Kitsiou, S., Fryssira, H., Chatzisevastou-Loukidou, C., Kanavakis, E., Merla, G., Bonnet, D., Pérez-Jurado, L.A., Estivill, X., Delabar, J.M., Antonarakis, S.E.

المصدر: Genome Research, vol. 23, no. 9, pp. 1410-1421

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/23783273; info:eu-repo/semantics/altIdentifier/eissn/1549-5469; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F56CAF52E2BB1; https://serval.unil.ch/notice/serval:BIB_F56CAF52E2BB; https://serval.unil.ch/resource/serval:BIB_F56CAF52E2BB.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_F56CAF52E2BB
https://doi.org/10.1101/gr.147991.112
https://serval.unil.ch/resource/serval:BIB_F56CAF52E2BB.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F56CAF52E2BB1

المؤلفون: van Bon, BWM, Mefford, HC, Menten, Björn, Koolen, DA, Sharp, AJ, Nillesen, WM, Innis, JW, de Ravel, TJL, Mercer, CL, Fichera, M, Stewart, H, Connell, LE, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, MA, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, EM, Baker, C, Finnemore, P, Huang, S, Maloney, VK, Crolla, JA, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, JP, Janssens, Sandra, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, Bart, Woods, CG, Oostra, Ann, Speleman, Franki, Pereira, AC, Kurg, A, Willatt, L, Knight, SJL, Vermeesch, JR, Romano, C, Barber, JC, Mortier, Geert, Perez-Jurado, LA, Kooy, F, Brunner, HG, Eichler, EE, Kleefstra, T, de Vries, BBA

المصدر: JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593

مصطلحات موضوعية: LINKAGE DISEQUILIBRIUM, CHROMOSOME 22Q11, PRADER-WILLI, MENTAL-RETARDATION, SEGMENTAL DUPLICATIONS, MOLECULAR CHARACTERIZATION, ARRAY-CGH, ABSENT-RADIUS SYNDROME, HUMAN GENOME, COPY-NUMBER VARIATION

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/839113; http://hdl.handle.net/1854/LU-839113; http://dx.doi.org/10.1136/jmg.2008.063412; https://biblio.ugent.be/publication/839113/file/6825128

الاتاحة: https://biblio.ugent.be/publication/839113
http://hdl.handle.net/1854/LU-839113
https://doi.org/10.1136/jmg.2008.063412
https://biblio.ugent.be/publication/839113/file/6825128

المؤلفون: Rodríguez-Santiago, B, Brunet, A, Sobrino, B, Serra-Juhé, C, Flores, R, Armengol, Ll, Vilella, E, Gabau, E, Guitart, M, Guillamat, R, Martorell, L, Valero, J, Gutiérrez-Zotes, A, Labad, A, Carracedo, A, Estivill, X, Pérez-Jurado, L A

المصدر: Molecular Psychiatry ; volume 15, issue 10, page 1023-1033 ; ISSN 1359-4184 1476-5578

الاتاحة: http://dx.doi.org/10.1038/mp.2009.53
https://www.nature.com/articles/mp200953.pdf
https://www.nature.com/articles/mp200953

المؤلفون: Paneque, M, Moldovan, R, Cordier, C, Serra-Juhé, C, Feroce, I, Pasalodos, S, Haquet, E, Lambert, D, Bjørnevoll, I, Skirton, H

مصطلحات موضوعية: Adult, Attitude, Certification, Counselors, Europe, Female, Genetic Counseling, Humans, Male, Middle Aged, Nurses

وصف الملف: 1075-1077; Print-Electronic; application/pdf

Relation: E-ISSN:1476-5438; http://hdl.handle.net/10026.1/9655

الاتاحة: http://hdl.handle.net/10026.1/9655
https://doi.org/10.1038/ejhg.2017.84

المؤلفون: Paneque, M, Moldovan, R, Cordier, C, Serra-Juhé, C, Feroce, I, Lambert, D, Bjørnevoll, I, Skirton, H

مصطلحات موضوعية: Accreditation, Europe, Genetic Counseling, Health Services, Humans, Nurses, Professional Competence

وصف الملف: 312-314; Print-Electronic; application/pdf

Relation: E-ISSN:1476-5438; http://hdl.handle.net/10026.1/5504

الاتاحة: http://hdl.handle.net/10026.1/5504
https://doi.org/10.1038/ejhg.2015.234

المؤلفون: Martos-Moreno, G. A., Serra-Juhe, C., Perez-Jurado, L. A., Argente, J.

المصدر: Archives of Disease in Childhood ; volume 99, issue 10, page 965-967 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/archdischild-2014-307097
https://syndication.highwire.org/content/doi/10.1136/archdischild-2014-307097

المؤلفون: Skirton, H, Barnoy, S, Ingvoldstad, C, van Kessel, I, Patch, C, O'Connor, A, Serra-Juhe, C, Stayner, B, Voelckel, M-A

مصطلحات موضوعية: education, curriculum, genetic counsellor, Delphi study

وصف الملف: 1060-1066; Print-Electronic; application/pdf

Relation: E-ISSN:1476-5438; http://hdl.handle.net/10026.1/4805

الاتاحة: http://hdl.handle.net/10026.1/4805
https://doi.org/10.1038/ejhg.2012.302

المؤلفون: Sailani, M.R. Makrythanasis, P. Valsesia, A. Santoni, F.A. Deutsch, S. Popadin, K. Borel, C. Migliavacca, E. Sharp, A.J. Sail, G.D. Falconnet, E. Rabionet, K. Serra-Juhé, C. Vicari, S. Laux, D. Grattau, Y. Dembour, G. Megarbane, A. Touraine, R. Stora, S. Kitsiou, S. Fryssira, H. Chatzisevastou-Loukidou, C. Kanavakis, E. Merla, G. Bonnet, D. Pérez-Jurado, L.A. Estivill, X. Delabar, J.M. Antonarakis, S.E.

مصطلحات موضوعية: cardiovascular diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::b5080378da137a91da848305eed6b71a
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087851

المؤلفون: van Bon, B.W., Mefford, H.C., Menten, B., Sharp, A.J., Nillesen, W.M., Innis, J.W., de Ravel, T.J., Mercer, C.L., Fichera, M., Steward, H., Connell, L.E., Ounap, K., Lachlan, K., Castle, B., Van der An, N., van Ravenswaaij, C., Nobrego, M.A., Serra-Juhe, C., Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Jurg, A., Willatt, L., Knight, S.J., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Perez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., de Vries, B.B.

Relation: van Bon, B.W., Mefford, H.C., Menten, B., Sharp, A.J., Nillesen, W.M., Innis, J.W., de Ravel, T.J., Mercer, C.L., Fichera, M., Steward, H., Connell, L.E., Ounap, K., Lachlan, K., Castle, B., Van der An, N., van Ravenswaaij, C., Nobrego, M.A., Serra-Juhe, C., Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Jurg, A., Willatt, L., Knight, S.J., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Perez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T. and de Vries, B.B. (2009) Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics, 46 (8), 511-523. (doi:10.1136/jmg.2008.063412 ).

الاتاحة: https://eprints.soton.ac.uk/69647/

المؤلفون: van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel de l'Argentière, Thomy, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, Jean-Pierre, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, Joris, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Female, Gene Duplication, Humans, Infant, Newborn, Male, Mental Retardation, Oligonucleotide Array Sequence Analysis, Pedigree, Pregnancy, Syndrome

Relation: Journal of Medical Genetics vol:46 issue:8 pages:511-523; https://lirias.kuleuven.be/handle/123456789/270656; http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=19372089; https://lirias.kuleuven.be/bitstream/123456789/270656/3//van+Bon.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/270656
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=19372089
https://lirias.kuleuven.be/bitstream/123456789/270656/3//van+Bon.pdf

المؤلفون: van Bon, B.W.M., Vandeweyer, Geert, Kooy, Frank, Van der Aa, Nathalie, Mefford, H.C., Menten, B., Mortier, Geert, Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., Stewart, H., Connell, L. E., Ounap, K., Lachlan, K., Castle, B., van Ravenswaaij, C., Nobrega, M. A., Serra-Juhe, C., Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E. M., Baker, C., Finnemore, P., Huang, S., Maloney, V. K., Crolla, J. A., van Kalmthout, M., Elia, M., Fryns, J. P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, Bart, Woods, C. G., Oostra, A., Speleman, F., Pereira, A. C., Kurg, A., Willatt, L., Knight, S. J. L., Vermeesch, J. R., Romano, C., Barber, J. C., Perez-Jurado, L. A., Brunner, H. G., Eichler, E. E., Kleefstra, T., de Vries, B. B. A.

المصدر: 0022-2593 ; Journal of medical genetics

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000268541500002

الاتاحة: https://hdl.handle.net/10067/779570151162165141

المؤلفون: Rodríguez-Santiago, B., Brunet, A, Sobrino, B., Serra-Juhé, C., Flores, R., Armengol, Ll, Vilella, E., Gabau, E., Guitart, M., Guillamat, R., Martorell, L., Valero, J, Gutiérrez-Zotes, A., Labad, A., Carracedo, A., Estivill, X., Pérez-Jurado, L. A.

المصدر: Molecular Psychiatry; Oct2010, Vol. 15 Issue 10, p1023-1033, 11p, 1 Color Photograph, 4 Charts

مصطلحات موضوعية: SCHIZOPHRENIA, PSYCHOSES, HEREDITY, MENTAL illness, GENETIC polymorphisms

المؤلفون: Álvaro, Sara, Abreu-Rodríguez, Irene, Abuli Vidal, Anna, Serra Juhe, Clara, Garrido Navas, M. Carmen

المساهمون: Institut Català de la Salut, Álvaro-Sánchez S CONGEN, Genetic Counselling Services, Granada, Spain. Abreu-Rodríguez I Genetics Service, Hospital del Mar Research Institute, IMIM, Barcelona, Spain. Abulí A Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Serra-Juhe C U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain. Garrido-Navas MC CONGEN, Genetic Counselling Services, Granada, Spain. Genetics Department, Faculty of Sciences, Universidad de Granada, Granada, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Malalties rares - Espanya, Assessorament genètic - Espanya, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases, DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Human Genetics::Genetics, Medical::Genetic Counseling, GEOGRAPHICALS::Geographic Locations::Europe::Spain, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras, DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::genética::genética humana::genética médica::consejo genético, DENOMINACIONES GEOGRÁFICAS::localizaciones geográficas::Europa (continente)::España

وصف الملف: application/pdf

Relation: Diagnostics;11(12); https://doi.org/10.3390/diagnostics11122320; Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MC. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics. 2021 Dec 9;11(12):2320.; https://hdl.handle.net/11351/7715; 000736585200001

الاتاحة: https://hdl.handle.net/11351/7715
https://doi.org/10.3390/diagnostics11122320