المؤلفون: Gosty?ski, A., Diercks, G.F.H., Escamez, M.-J., Chandran, N.S., de Lucas, R., Garcia-Martin, A., Del Rio, M., Bremer, J., Bolling, M.C., Meana, A., Llames, S.G., Schmidt, E., Ludwig, R., Jonkman, M.F., Pas, H.H., Pasmooij, A.M.G.

المساهمون: MEDICINE

المصدر: Scopus OA2021

Relation: Gosty?ski, A., Diercks, G.F.H., Escamez, M.-J., Chandran, N.S., de Lucas, R., Garcia-Martin, A., Del Rio, M., Bremer, J., Bolling, M.C., Meana, A., Llames, S.G., Schmidt, E., Ludwig, R., Jonkman, M.F., Pas, H.H., Pasmooij, A.M.G. (2021-11-01). Natural Occurrence of Autoantibodies against Basement Membrane Proteins in Epidermolysis Bullosa. Journal of Investigative Dermatology. ScholarBank@NUS Repository. https://doi.org/10.1016/j.jid.2021.10.030; https://scholarbank.nus.edu.sg/handle/10635/233328

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/233328

المؤلفون: Has, C., Liu, L., Bolling, M. C., Charlesworth, A. V., El Hachem, M., Escamez, M. J., Fuentes, I., Buechel, S., Hiremagalore, R., Pohla-Gubo, G., van den Akker, P. C., Wertheim-Tysarowska, K., Zambruno, G.

المصدر: Has , C , Liu , L , Bolling , M C , Charlesworth , A V , El Hachem , M , Escamez , M J , Fuentes , I , Buechel , S , Hiremagalore , R , Pohla-Gubo , G , van den Akker , P C , Wertheim-Tysarowska , K & Zambruno , G 2020 , ' Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa ' , British Journal of Dermatology , vol. 182 , no. 3 , pp. 574-592 . https://doi.org/10.1111/bjd.18128

مصطلحات موضوعية: TRANSMISSION ELECTRON-MICROSCOPY, INTERSTITIAL LUNG-DISEASE, CAUSES KINDLER SYNDROME, PRENATAL-DIAGNOSIS, IMMUNOFLUORESCENCE MICROSCOPY, EXTRACUTANEOUS MANIFESTATIONS, GLYCINE SUBSTITUTION, MOLECULAR DIAGNOSIS, SEQUENCE VARIANTS, CHILEAN PATIENTS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/74f5b83b-8e65-4061-be60-de078e033d3c
https://research.rug.nl/en/publications/74f5b83b-8e65-4061-be60-de078e033d3c
https://doi.org/10.1111/bjd.18128
https://pure.rug.nl/ws/files/97448607/Has_et_al_2019_British_Journal_of_Dermatology.pdf

المؤلفون: Chacón-Solano, E, León, C, Díaz, F, García-García, F, García, M, Escámez, M J, Guerrero-Aspizua, S, Conti, C J, Mencía, Á, Martínez-Santamaría, L, Llames, S, Pévida, M, Carbonell-Caballero, J, Puig-Butillé, J A, Maseda, R, Puig, S, de Lucas, R, Baselga, E, Larcher, F, Dopazo, J, Del Río, M

مصطلحات موضوعية: Adolescent, Adult, Biopsy, Blister, Case-Control Studies, Cells, Cultured, Child, Preschool, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica, Extracellular Matrix, Extracellular Matrix Proteins, Female, Fibroblasts, Fibrosis, Gene Expression Regulation, Healthy Volunteers, Humans, Infant, Newborn, Male, Middle Aged, Mutation, Periodontal Diseases, Photosensitivity Disorders, Primary Cell Culture, RNA-Seq, Skin, Xeroderma Pigmentosum

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/13479; PMC6850467; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850467/pdf

الاتاحة: http://hdl.handle.net/10668/13479
https://doi.org/10.1111/bjd.17698
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bjd.17698
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850467/pdf

المؤلفون: Gostynski, A., Llames, S., Garcia, M., Escamez, M. J., Martinez-Santamaria, L., Nijenhuis, Albertine, Meana, A., Pas, H. H., Larcher, F., Pasmooij, A. M. G., Jonkman, M. F., Del Rio, M.

المصدر: Gostynski , A , Llames , S , Garcia , M , Escamez , M J , Martinez-Santamaria , L , Nijenhuis , A , Meana , A , Pas , H H , Larcher , F , Pasmooij , A M G , Jonkman , M F & Del Rio , M 2013 , ' Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy ' , Human Gene Therapy , vol. 24 , no. 12 , pp. A131 . https://doi.org/10.1089/hum.2013.2513

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/dcf96bd6-84a1-406c-ab20-d2030bc1cb7e

الاتاحة: https://hdl.handle.net/11370/dcf96bd6-84a1-406c-ab20-d2030bc1cb7e
https://research.rug.nl/en/publications/dcf96bd6-84a1-406c-ab20-d2030bc1cb7e
https://doi.org/10.1089/hum.2013.2513
https://pure.rug.nl/ws/files/19295915/hum_2E2013_2E2513.pdf

المؤلفون: Castelo, B., Viñal, D., Maseda, R., Ostios, L., Sánchez, D., García-Salvatierra, B., Escámez, M. J., Martínez-Santamaría, L., Del Río, M., Mora-Rillo, M., Vilches, Y., Beato, M. J., López Gutiérrez, J. C., Romero, N., Santos, C., Miranda, J., de Lucas, R.

المصدر: Clinical and Translational Oncology ; volume 21, issue 11, page 1573-1577 ; ISSN 1699-048X 1699-3055

الاتاحة: http://dx.doi.org/10.1007/s12094-019-02073-3
http://link.springer.com/content/pdf/10.1007/s12094-019-02073-3.pdf
http://link.springer.com/article/10.1007/s12094-019-02073-3/fulltext.html

المؤلفون: Pasmooij, A. M. G., Garcia, M., Escamez, M. J., Nijenhuis, A. M., Azon, A., Natividad Cuadrado Corrales, Jonkman, M. F., Del Rio, M.

المصدر: ResearcherID
Publons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7d1b5a42a543265645ce909298a77d47
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000281110100454&KeyUID=WOS:000281110100454

المؤلفون: Garcia, M., Gostynski, A., Sara Llames, Escamez, M. J., Martinez-Santamaria, L., Pasmooij, M., Azon, A., Mir, S., Meana, A., Larcher, F., Jonkman, M., Del Rio, M.

المصدر: Web of Science
ResearcherID

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0fee8e8ed477d944f9447296ee5bac6a
https://publons.com/wos-op/publon/8291372/

المؤلفون: Cuadrado-Corrales, N., Garcia, M., Escamez, M. J., Carrillo, A., Trujillo-Tiebas, M. J., Carmen Ayuso, Del Rio, M.

المصدر: Scopus-Elsevier
ResearcherID
Europe PubMed Central

مصطلحات موضوعية: Family Health, Male, Collagen Type VII, Base Sequence, Nucleotides, DNA Mutational Analysis, Molecular Sequence Data, Infant, Exons, Introns, Epidermolysis Bullosa Dystrophica, Spain, Mutation, Humans, Female, Child, Codon

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::12647ba19361ab8f9f83bcce7e76b913
http://www.scopus.com/inward/record.url?eid=2-s2.0-69849106421&partnerID=MN8TOARS

المؤلفون: Escamez, M. J., Luchetti, M., Svegliati, S., Martinez, J., Duarte, B., Almeida, E., Holguin, A., Retamosa, L., Illera, N., Garcia, E., Pevida, M., Sara Llames, Larcher, F., Meana, A., Avvedimento, E. V., Gabrielli, A., Del Rio, M.

المصدر: ResearcherID
Web of Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bb047d1d129ca76a22d549c9dc4a8209
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000269673100111&KeyUID=WOS:000269673100111

المؤلفون: Natividad Cuadrado Corrales, Garcia, M., Escamez, M. J., Sanchez-Jimeno, C., Illera, N., Lopez-Martinez, M. A., Trujillo-Tieba, M. J., Ayuso, C., Del Rio, M.

المصدر: Scopus-Elsevier
ResearcherID

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::49a9440215c602e872b31aa4d86fcc7e
http://www.scopus.com/inward/record.url?eid=2-s2.0-77449107439&partnerID=MN8TOARS

المؤلفون: Natividad Cuadrado Corrales, Sanchez-Jimeno, C., Murillas, R., Almarza, D., Garcia, M., Escamez, M. J., Illera, N., Trujillo-Tieba, M. J., Ayuso, C., Jorcano, J. L., Meana, A., Larcher, F., Del Rio, M.

المصدر: Publons
ResearcherID

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4407290a4d27db62a2c21865cad0dc94
https://publons.com/publon/9837502/

المؤلفون: Martinez-Santamaria, L., Escamez, M. J., Carretero, M., Sara Llames, Garcia, E., Pevida, M., Duarte, B., Retamosa, L., Holguin, A., Illera, N., Larcher, F., Jorcano, J. L., Meana, A., Del Rio, M.

المصدر: Web of Science
ResearcherID

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::40f326d6b615a79db89370a52ac84a72
https://publons.com/wos-op/publon/8071234/