المؤلفون: Unger, S, Gorna, MW, Le Bechec, A, Do Vale-Pereira, S, Bedeschi, MF, Geiberger, S, Grigelioniene, G, Horemuzova, E, Lalatta, F, Lausch, E, Magnan, C, Nampoothiri, S, Nishimura, G, Petrella, D, Rojas-Ringeling, F, Utsunomiya, A, Zabel, B, Pradervand, S, Harshman, K, Campos-Xavier, B, Bonafe, L, Superti-Furga, G, Stevenson, B, Superti-Furga, A

المصدر: American journal of human genetics. 92(6):990-995

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:126853150Test

المؤلفون: Arlabosse, T., Materna, M., Riccio, O., Schnider, C., Angelini, F., Perreau, M., Rochat, I., Superti-Furga, A., Campos-Xavier, B., Héritier, S., Pereira, A., Deswarte, C., Lévy, R., Distefano, M., Bustamante, J., Roelens, M., Borie, R., Le Brun, M., Crestani, B., Casanova, J.L., Puel, A., Hofer, M., Fieschi, C., Theodoropoulou, K., Béziat, V., Candotti, F.

المصدر: Journal of clinical immunology, vol. 43, no. 7, pp. 1674

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37341861; info:eu-repo/semantics/altIdentifier/eissn/1573-2592; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D920DAB3A1253; https://serval.unil.ch/notice/serval:BIB_D920DAB3A125Test; urn:issn:0271-9142; https://serval.unil.ch/resource/serval:BIB_D920DAB3A125.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D920DAB3A1253Test

الإتاحة: https://doi.org/10.1007/s10875-023-01539-yTest
https://serval.unil.ch/notice/serval:BIB_D920DAB3A125Test
https://serval.unil.ch/resource/serval:BIB_D920DAB3A125.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D920DAB3A1253Test

المؤلفون: Botto, LD, Meeths, M, Campos-Xavier, B, Bergamaschi, R, Mazzanti, L, Scarano, E, Finocchi, A, Cancrini, C, Zirn, B, Kuhnle, I, Kramm, CM, Alanay, Y, Jones, WD, Irving, M, Sabir, A, Henter, JI, Borgstrom, B, Nordgren, A, Hammarsjo, A, Putti, C, Mozzato, C, Zuccarello, D, Nishimura, G, Bonafe, L, Grigelioniene, G, Unger, S, Superti-Furga, A

المصدر: American journal of medical genetics. Part A. 185(2):517-527

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145520930Test

المؤلفون: Salgado, JR, Pereira, J, McEntagart, M, Mansour, S, Daubney, P, Power, R, Hall, C, Campos-Xavier, B, Egas, C, Froufe, H, Simoes, MJ, Gomes, C, Saraiva, JM, Sousa, SB

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111970/1/Cardiospondylocarpofacial%20syndrome%20as%20a%20distinct%20hereditary%20connective%20tissue%20disorder.pdfTest; Salgado, JR; Pereira, J; McEntagart, M; Mansour, S; Daubney, P; Power, R; Hall, C; Campos-Xavier, B; Egas, C; Froufe, H; et al. Salgado, JR; Pereira, J; McEntagart, M; Mansour, S; Daubney, P; Power, R; Hall, C; Campos-Xavier, B; Egas, C; Froufe, H; Simoes, MJ; Gomes, C; Saraiva, JM; Sousa, SB (2020) Cardiospondylocarpofacial syndrome as a distinct hereditary connective tissue disorder: novel missense variant in MAP3K7 in two unrelated patients. In: 23rd Annual Meeting of the Portuguese Society of Human Genetics, MEDICINE, 14-16 November 2019, Coimbra. SGUL Authors: Mansour, Sahar

الإتاحة: https://openaccess.sgul.ac.uk/id/eprint/111970Test/
https://openaccess.sgul.ac.uk/id/eprint/111970/1/Cardiospondylocarpofacial%20syndrome%20as%20a%20distinct%20hereditary%20connective%20tissue%20disorder.pdfTest

المؤلفون: Lebon, S., Quinodoz, M., Peter, V.G., Gengler, C., Blanchard, G., Cina, V., Campos-Xavier, B., Rivolta, C., Superti-Furga, A.

المصدر: Genes, vol. 12, no. 9, pp. 1397

مصطلحات موضوعية: Abortion, Eugenic, Agenesis of Corpus Callosum/complications, Agenesis of Corpus Callosum/diagnosis, Agenesis of Corpus Callosum/genetics, Child, Preschool, Developmental Disabilities/complications, Developmental Disabilities/genetics, Facial Asymmetry/complications, Facial Asymmetry/genetics, Family, Female, Fetal Diseases/diagnosis, Fetal Diseases/genetics, Heterozygote, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Jumonji Domain-Containing Histone Demethylases/genetics, Mutation, Missense, Nuclear Proteins/genetics, Pedigree, Pregnancy, Repressor Proteins/genetics, Siblings, Switzerland, KDM5B

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34573379; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_14ADEBC9C07B7; https://serval.unil.ch/notice/serval:BIB_14ADEBC9C07BTest; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_14ADEBC9C07B.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_14ADEBC9C07B7Test

الإتاحة: https://doi.org/10.3390/genes12091397Test
https://serval.unil.ch/notice/serval:BIB_14ADEBC9C07BTest
https://serval.unil.ch/resource/serval:BIB_14ADEBC9C07B.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_14ADEBC9C07B7Test

المؤلفون: Pollazzon, M., Caraffi, S.G., Faccioli, S., Rosato, S., Fodstad, H., Campos-Xavier, B., Soncini, E., Comitini, G., Frattini, D., Grimaldi, T., Marinelli, M., Martorana, D., Percesepe, A., Sassi, S., Fusco, C., Gargano, G., Superti-Furga, A., Garavelli, L.

المصدر: Genes, vol. 13, no. 1, pp. 29

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Adolescent, Adult, Arthrogryposis/genetics, Child, Preschool, Conjunctiva/abnormalities, Female, Genotype, Humans, Loeys-Dietz Syndrome/genetics, Male, Malignant Hyperthermia/genetics, Middle Aged, Mutation/genetics, Pedigree, Phenotype, Pregnancy, Pterygium/genetics, Skin Abnormalities/genetics, Escobar syndrome, amyoplasia, arthrogryposis, differential diagnosis, distal arthrogryposis, genetic testing, multiple pterygium syndrome (MPS), prognosis

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35052370; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9DFD90B994C17; https://serval.unil.ch/notice/serval:BIB_9DFD90B994C1Test; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_9DFD90B994C1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9DFD90B994C17Test

الإتاحة: https://doi.org/10.3390/genes13010029Test
https://serval.unil.ch/notice/serval:BIB_9DFD90B994C1Test
https://serval.unil.ch/resource/serval:BIB_9DFD90B994C1.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9DFD90B994C17Test

المؤلفون: Campos-Xavier, B., Braissant, O., Pedro, R., Superti-Furga, A.

المصدر: Molecular genetics and metabolism reports, vol. 27, pp. 100746

مصطلحات موضوعية: Genetics, Molecular Biology, Endocrinology, Amino acids, Cystathionine β synthase deficiency, Exercise, Homocysteine, Indirect calorimetry, Resting metabolic rate

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33868930; info:eu-repo/semantics/altIdentifier/pissn/2214-4269; info:eu-repo/grantAgreement/UNIL//Pépinière-FBM-UNIL (CT)///; info:eu-repo/grantAgreement/OTHER//Federal Commission for Scholarships for Foreign Students (AT)///; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D434B028D2668; https://serval.unil.ch/notice/serval:BIB_D434B028D266Test; urn:issn:2214-4269; https://serval.unil.ch/resource/serval:BIB_D434B028D266.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D434B028D2668Test

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100746Test
https://serval.unil.ch/notice/serval:BIB_D434B028D266Test
https://serval.unil.ch/resource/serval:BIB_D434B028D266.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D434B028D2668Test

المؤلفون: Touilloux, B., Lu, H., Campos-Xavier, B., Superti-Furga, A., Hauschild, M., Bouthors, T., Tran, C.

المصدر: BMC endocrine disorders, vol. 21, no. 1, pp. 194

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34592990; info:eu-repo/semantics/altIdentifier/eissn/1472-6823; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C20E707E2A265; https://serval.unil.ch/notice/serval:BIB_C20E707E2A26Test; urn:issn:1472-6823; https://serval.unil.ch/resource/serval:BIB_C20E707E2A26.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C20E707E2A265Test

الإتاحة: https://doi.org/10.1186/s12902-021-00858-8Test
https://serval.unil.ch/notice/serval:BIB_C20E707E2A26Test
https://serval.unil.ch/resource/serval:BIB_C20E707E2A26.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C20E707E2A265Test

المؤلفون: Allou, L., Balzano, S., Magg, A., Quinodoz, M., Royer-Bertrand, B., Schöpflin, R., Chan, W., Speck-Martins, C., Rocha Carvalho, D., Farage, L., Marques Lourenço, C., Albuquerque, R., Rajagopal, S., Nampoothiri, S., Campos-Xavier, B., Chiesa, C., Niel-Bütschi, F., Wittler, L., Timmermann, B., Spielmann, M., Robson, M., Ringel, A., Heinrich, V., Cova, G., Andrey , G., Prada-Medina, C., Pescini-Gobert, R., Unger, S., Bonafé, L., Grote, P., Rivolta, C., Mundlos, S., Superti-Furga, A.

المصدر: Nature

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33568816; http://hdl.handle.net/21.11116/0000-0008-1272-3Test; http://hdl.handle.net/21.11116/0000-0008-1274-1Test

الإتاحة: https://doi.org/10.1038/s41586-021-03208-9Test
http://hdl.handle.net/21.11116/0000-0008-1272-3Test
http://hdl.handle.net/21.11116/0000-0008-1274-1Test

المؤلفون: Kumps, C., Campos-Xavier, B., Hilhorst-Hofstee, Y., Marcelis, C., Kraenzlin, M., Fleischer, N., Unger, S., Superti-Furga, A.

المصدر: Genes, vol. 11, no. 4, pp. 420

مصطلحات موضوعية: Adolescent, Adult, Case-Control Studies, Cation Transport Proteins/genetics, Child, Ehlers-Danlos Syndrome/genetics, Ehlers-Danlos Syndrome/pathology, Female, Follow-Up Studies, Humans, Male, Mutation, Osteochondrodysplasias/genetics, Osteochondrodysplasias/pathology, Prognosis, Young Adult, DeepGestalt technology, Ehlers–Danlos syndrome, SLC39A13, connective tissue, dysmorphology, short stature

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32295219; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DA412F996FF00; https://serval.unil.ch/notice/serval:BIB_DA412F996FF0Test; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_DA412F996FF0.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DA412F996FF00Test

الإتاحة: https://doi.org/10.3390/genes11040420Test
https://serval.unil.ch/notice/serval:BIB_DA412F996FF0Test
https://serval.unil.ch/resource/serval:BIB_DA412F996FF0.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DA412F996FF00Test