المؤلفون: Pinto E Vairo, F, Pichurin, PN, Fervenza, FC, Nasr, SH, Mills, K, Schmitz, CT, Klee, EW, Herrmann, SM

المصدر: BMC Nephrology , 21 (1) , Article 341. (2020)

مصطلحات موضوعية: Fabry disease, Individualized medicine, LMX1B, Nail-patella-like renal disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10108731/1/s12882-020-02012-3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10108731Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10108731/1/s12882-020-02012-3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10108731Test/

المؤلفون: Santiago, K. M., Castro, L. P., Neto, J. P.D., de Nóbrega, A. F., Pinto, C. A.L., Ashton-Prolla, P., Pinto e Vairo, F., de Medeiros, P. F.V., Ribeiro, E. M., Ribeiro, B. F.R., do Valle, F. F., Doriqui, M. J.R., Leite, C. H.B., Rocha, R. M., Moura, L. M.S., Munford, V., Galante, P. A.F., Menck, C. F.M., Rogatto, S. R., Achatz, M. I.

المصدر: Santiago , K M , Castro , L P , Neto , J P D , de Nóbrega , A F , Pinto , C A L , Ashton-Prolla , P , Pinto e Vairo , F , de Medeiros , P F V , Ribeiro , E M , Ribeiro , B F R , do Valle , F F , Doriqui , M J R , Leite , C H B , Rocha , R M , Moura , L M S , Munford , V , Galante , P A F , Menck , C F ....

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/538471cf-e510-4f45-918b-fff77089c2a7Test

الإتاحة: https://doi.org/10.1111/jdv.16405Test
https://portal.findresearcher.sdu.dk/da/publications/538471cf-e510-4f45-918b-fff77089c2a7Test
https://findresearcher.sdu.dk/ws/files/170675195/Comprehensive_germline_mutation_analysis_and_clinical_profile_in.pdfTest

المؤلفون: Marafi, D., Kozar, N., Duan, R., Bradley, S., Yokochi, K., Al Mutairi, F., Saadi, N.W., Whalen, S., Brunet, T., Kotzaeridou, U., Choukair, D., Keren, B., Nava, C., Kato, M., Arai, H., Froukh, T., Faqeih, E.A., AlAsmari, A.M., Saleh, M.M., Pinto E Vairo, F., Pichurin, P.N., Klee, E.W., Schmitz, C.T., Grochowski, C.M., Mitani, T., Herman, I., Calame, D.G., Fatih, J.M., Du, H., Coban-Akdemir, Z., Pehlivan, D., Jhangiani, S.N., Gibbs, R.A., Miyatake, S., Matsumoto, N., Wagstaff, L.J., Posey, J.E., Lupski, J.R., Meijer, D., Wagner, M.

المصدر: Am. J. Hum. Genet. 109, 1713-1723 (2022)

مصطلحات موضوعية: Kcna, Lgi3, Bi-allelic Variation, Facial Myokymia, Gene And Genome Instability, Genomic Rearrangement, Multi-exonic Cnv, Neurobiology Of Disease, Peripheral Nerve Hyperexcitability Syndromes, Potassium Channel Complexes

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35948005; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100012; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66018Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.006Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66018Test

المؤلفون: CARMONA, E., KALRA, S., PINTO E VAIRO, F., KEMPPAINEN, J., PROCHNOW, C.

المصدر: Chest ; volume 161, issue 6, page A245 ; ISSN 0012-3692

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine, Pulmonary and Respiratory Medicine

الإتاحة: https://doi.org/10.1016/j.chest.2021.12.276Test
https://api.elsevier.com/content/article/PII:S001236922104722X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S001236922104722X?httpAccept=text/plainTest

المؤلفون: Santiago, K.M., Castro, L.P., Neto, J.P.D., Nóbrega, A.F., Pinto, C.A.L., Ashton‐Prolla, P., Pinto e Vairo, F., Medeiros, P.F.V., Ribeiro, E.M., Ribeiro, B.F.R., Valle, F.F., Doriqui, M.J.R., Leite, C.H.B., Rocha, R.M., Moura, L.M.S., Munford, V., Galante, P.A.F., Menck, C.F.M., Rogatto, S.R., Achatz, M.I.

المصدر: Journal of the European Academy of Dermatology & Venereology; Oct2020, Vol. 34 Issue 10, p2392-2401, 10p

مصطلحات موضوعية: XERODERMA pigmentosum, ANGIOSARCOMA, GENETIC mutation, SKIN cancer, DNA repair, SYMPTOMS

المؤلفون: Szakszon, K., Lourenco, C.M., Callewaert, B.L., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A.S., Vitobello, A., Patterson, W.G., Louie, R., Pinto E Vairo, F., Klee, E., Kaiwar, C., Gavrilova, R.H., Agre, K.E., Jacquemont, S., Khadijé, J., Giltay, J., van Gassen, K., Merő, G., Gerkes, E., Van Bon, B.W., Rinne, T., Pfundt, R., Brunner, H.G., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T.B., Khelifa, M.M., Bergmann, A.K., Cueto-González, A.M., Martorell, A.C., Ramachandrappa, S., Sawyer, L.B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, S.A., Brennenstuhl, H., Schwaibolf, E.M., Battisti, G., Parmentier, B., Stevens, SJC

المصدر: Journal of medical genetics

مصطلحات موضوعية: Behaviour and Behaviour Mechanisms, Epilepsy, Genetic Counselling, Paediatrics, Psychiatry

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37580113; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; https://serval.unil.ch/notice/serval:BIB_64727C0AA5E2Test; urn:issn:0022-2593

الإتاحة: https://doi.org/10.1136/jmg-2022-109030Test
https://serval.unil.ch/notice/serval:BIB_64727C0AA5E2Test