المؤلفون: Mackay, Deborah J. G., Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M., Kalish, Jennifer M., Maas, Saskia M., Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H., Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I., Õunap, Katrin, Riccio, Andrea, Perez de Nanclares, Guiomar, Maher, Eamonn R., Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep

المصدر: Clinical epigenetics., London : BMC, 2024, vol. 16, iss. 1, art. no. 99, p. [1-19]. ; ISSN 1868-7075 ; eISSN 1868-7083

مصطلحات موضوعية: differentially methylated regions, DMR, multi-locus imprinting disturbance, MLID, imprinting disorder, clinical diagnosis, molecular diagnosis

وصف الملف: application/pdf

Relation: https://epublications.vu.lt/object/elaba:204048723/204048723.pdf; https://repository.vu.lt/VU:ELABAPDB204048723&prefLang=en_US

الاتاحة: https://repository.vu.lt/VU:ELABAPDB204048723&prefLang=en_US

المؤلفون: Mackay, Deborah JG, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep

مصطلحات موضوعية: Clinical diagnosis, DMR, Differentially methylated regions, Imprinting disorder, MLID, Molecular diagnosis, Multi-locus imprinting disturbance, Humans, Genomic Imprinting, DNA Methylation, Genetic Testing

وصف الملف: application/pdf; application/zip; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/372144

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/372144

المؤلفون: Manero-Azua, Africa, Vado, Yerai, Gonzàlez Morlà, Judith, Mogas, Eduard, Pereda, Arrate, Perez de Nanclares, Guiomar

المصدر: Frontiers in Endocrinology; 2024, p1-8, 8p

مصطلحات موضوعية: GENETIC regulation, SINGLE nucleotide polymorphisms, LOCUS (Genetics), CHROMOSOMES, EPIGENETICS

المؤلفون: Ertl, Diana-Alexandra, de Nanclares, Guiomar Perez, Jüppner, Harald, Hanna, Patrick, Pagnano, Angela, Pereda, Arrate, Rothenbuhler, Anya, Del Sindaco, Giulia, Ruiz-Cuevas, Pilar, Audrain, Christelle, Escribano, Arancha, Berkenou, Jugurtha, Gleiss, Andreas, Mantovani, Giovanna, Linglart, Agnès

المساهمون: European Reference networks Endo-ERN, Ministry of Economy and Competitiveness, European Regional Development Fund, European Society for Paediatric Endocrinology

المصدر: European Journal of Endocrinology ; volume 189, issue 1, page 123-131 ; ISSN 0804-4643 1479-683X

الاتاحة: https://doi.org/10.1093/ejendo/lvad085
https://academic.oup.com/ejendo/advance-article-pdf/doi/10.1093/ejendo/lvad085/50879936/lvad085.pdf
https://academic.oup.com/ejendo/article-pdf/189/1/123/50961875/lvad085.pdf

المؤلفون: Manero-Azua, Africa, Pereda, Arrate, Llano-Rivas, Isabel, Garin, Intza, Perez de Nanclares, Guiomar

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2023.1274056
https://www.frontiersin.org/articles/10.3389/fgene.2023.1274056/full

المؤلفون: Vado, Yerai, Pereda, Arrate, Manero-Azua, Africa, Perez de Nanclares, Guiomar

المساهمون: Instituto de Salud Carlos III, Osasun Saila, Eusko Jaurlaritzako

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الاتاحة: http://dx.doi.org/10.3389/fendo.2022.1055431
https://www.frontiersin.org/articles/10.3389/fendo.2022.1055431/full

المؤلفون: Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea, Cerrato, Flavia

المساهمون: Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea, Cerrato, Flavia

مصطلحات موضوعية: Multi-locus imprinting disturbance Beckwith–Wiedemann syndrome Pseudohypoparathyroidism Genomic imprinting DNA methylation Maternal-effect variants Subcortical maternal complex Recurrent pregnancy loss Infertility

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000801180200001; volume:14; issue:1; journal:CLINICAL EPIGENETICS; http://hdl.handle.net/11588/887191; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130798464

الاتاحة: http://hdl.handle.net/11588/887191
https://doi.org/10.1186/s13148-022-01292-w

المؤلفون: Eraña, Hasier, San Millán, Beatriz, Díaz-Domínguez, Carlos M., Charco, Jorge M., Rodríguez, Rosa, Viéitez, Irene, Pereda, Arrate, Yañez, Rosa, Geijo, Maria V., Navarro, Carmen, Perez de Nanclares, Guiomar, Teijeira, Susana, Castilla, Joaquín

مصطلحات موضوعية: Prion disease, Transmissible spongiform encephalopathy, Gerstmann–Sträussler–Scheinker disease, Neurodegeneration, Inherited prion disease, Neuropathology

Relation: oai:zenodo.org:6382878

الاتاحة: https://doi.org/10.1007/s00415-022-11051-9

المؤلفون: Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A

المساهمون: Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447367

الاتاحة: https://dspace.library.uu.nl/handle/1874/447367

المؤلفون: Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, De Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R., Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, De Nanclares, Guiomar Perez, Temple, I. Karen, Ogata, Tsutomu, Lapunzina, Pablo, Eggermann, Thomas

وصف الملف: text

Relation: https://eprints.soton.ac.uk/472604/1/s13148_022_01358_9.pdf; Mackay, Deborah, Bliek, Jet, Kagami, Masayo and Temple, I. Karen , et al. (2022) First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders. Clinical Epigenetics, 14 (1), [143]. (doi:10.1186/s13148-022-01358-9 ).

الاتاحة: https://eprints.soton.ac.uk/472604/
https://eprints.soton.ac.uk/472604/1/s13148_022_01358_9.pdf

المؤلفون: Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, De Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R., Tümer, Zeynep

وصف الملف: text

Relation: https://eprints.soton.ac.uk/456159/1/MLID_variants_R1.pdf; https://eprints.soton.ac.uk/456159/2/s13148_022_01259_x.pdf; Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, De Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R. and Tümer, Zeynep (2022) Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clinical Epigenetics, 14, [41 (2022)]. (doi:10.1186/s13148-022-01259-x ).

الاتاحة: https://eprints.soton.ac.uk/456159/
https://eprints.soton.ac.uk/456159/1/MLID_variants_R1.pdf
https://eprints.soton.ac.uk/456159/2/s13148_022_01259_x.pdf

المؤلفون: Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R., Tümer, Zeynep

المصدر: Eggermann , T , Yapici , E , Bliek , J , Pereda , A , Begemann , M , Russo , S , Tannorella , P , Calzari , L , de Nanclares , G P , Lombardi , P , Temple , I K , Mackay , D , Riccio , A , Kagami , M , Ogata , T , Lapunzina , P , Monk , D , Maher , E R & Tümer , Z 2022 , ' Trans -acting genetic variants causing multilocus imprinting disturbance (MLID) : common mechanisms and consequences ' , Clinical ....

مصطلحات موضوعية: Beckwith–Wiedemann syndrome spectrum, Differentially methylated regions, Epimutations, Gain of methylation, Growth disturbances, Imprinting disorders, Loss of methylation, Multi locus imprinting disturbance, Silver–Russell syndrome spectrum, Transient neonatal diabetes mellitus, Uniparental disomy

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/transacting-genetic-variants-causing-multilocus-imprinting-disturbance-mlid(a8c5da26-3f3c-4c26-813c-4f90a8aed7d2).html
https://doi.org/10.1186/s13148-022-01259-x
https://curis.ku.dk/ws/files/302377591/s13148_022_01259_x.pdf

المؤلفون: Pereda, Arrate, Elli, Francesca M, Thiele, Suzanne, de Sanctis, Luisa, Rothenbuhler, Anya, Hanna, Patrick, Francou, Bruno, Ertl, Diana Alexandra, Perez de Nanclares, Guiomar, Linglart, Agnès, Mantovani, Giovanna

المساهمون: Pereda, Arrate, Elli, Francesca M, Thiele, Suzanne, de Sanctis, Luisa, Rothenbuhler, Anya, Hanna, Patrick, Francou, Bruno, Ertl, Diana Alexandra, Perez de Nanclares, Guiomar, Linglart, Agnè, Mantovani, Giovanna

Relation: info:eu-repo/semantics/altIdentifier/pmid/33270042; volume:184; issue:2; firstpage:311-320; lastpage:320; numberofpages:10; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/2318/1767409

الاتاحة: http://hdl.handle.net/2318/1767409
https://doi.org/10.1530/EJE-20-0625

المؤلفون: Manero-Azua, Africa, Vado, Yerai, Gonzàlez Morlà, Judith, Mogas, Eduard, Pereda, Arrate, Perez de Nanclares, Guiomar

المصدر: Front Endocrinol (Lausanne) ; ISSN:1664-2392 ; Volume:15

مصطلحات موضوعية: GNAS, MS-MLPA, PHP1B, heterodisomy, iPPSD3, upd(20)pat

Relation: https://doi.org/10.3389/fendo.2024.1505244; https://pubmed.ncbi.nlm.nih.gov/39736869; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11682883/

الاتاحة: https://doi.org/10.3389/fendo.2024.1505244
https://pubmed.ncbi.nlm.nih.gov/39736869
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11682883/

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M, Garcia Ramirez, Aurora, Germain-Lee, Emily L, Groussin, Lionel, Hamdy, Neveen A T, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H, Shore, Eileen M, Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

المساهمون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thoma, Elli, Francesca M, Garcia Ramirez, Aurora, Germain-Lee, Emily L, Groussin, Lionel, Hamdy, Neveen A T, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lar, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H, Shore, Eileen M, Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

مصطلحات موضوعية: Acrodysostosi, Bone disorder, Brachydactyly, Calcium and phosphate metabolism, Consensu, Diagnosi, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment

Relation: info:eu-repo/semantics/altIdentifier/pmid/32756064; info:eu-repo/semantics/altIdentifier/wos/WOS:000570204500006; volume:93; issue:3; firstpage:182-196; lastpage:196; numberofpages:15; journal:HORMONE RESEARCH IN PAEDIATRICS; http://hdl.handle.net/2318/1767394; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089824135

الاتاحة: http://hdl.handle.net/2318/1767394
https://doi.org/10.1159/000508985

المؤلفون: Kortazar-Zubizarreta, Izaro, Ruiz-Onandi, Rebeca, Pereda, Arrate, Vado, Yerai, González-Chinchón, Gonzalo, Eraña, Hasier, Pérez de Nanclares, Guiomar, Castilla, Joaquín

مصطلحات موضوعية: Creutzfeldt-Jakob disease, long survival, neuropathology, sporadic CJD

Relation: https://zenodo.org/communities/cicbiogune_repo; https://doi.org/10.1111/ene.14946; oai:zenodo.org:4896267

الاتاحة: https://doi.org/10.1111/ene.14946

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothee, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A. T., Hanna, Patrick, Hiort, Olaf, Jueppner, Harald, Kamenicky, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Angel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnes

المساهمون: HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, University of Helsinki, Helsinki University Hospital Area

مصطلحات موضوعية: Acrodysostosis, Bone disorders, Brachydactyly, Calcium and phosphate metabolism, Consensus, Diagnosis, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment, ALBRIGHT HEREDITARY OSTEODYSTROPHY, PROGRESSIVE OSSEOUS HETEROPLASIA, IDENTIFIES PDE4D MUTATIONS, HORMONE-RELEASING-HORMONE, STIMULATORY G-PROTEIN, PSEUDO-PSEUDOHYPOPARATHYROIDISM, SKELETAL RESPONSIVENESS, INCREASED PREVALENCE, PARATHYROID-HORMONE, ENERGY-EXPENDITURE, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: The European Network on Pseudohypoparathyroidism (EuroPHPnet), which promoted the consensus, was funded by an ESPE grant to A.L. The consensus statement and the series of consensus meetings were supported by funds from the COST action BM1208 on imprinting disorders (www.imprinting-disorders.eu), the ESPE, and the ESE. Travel costs and housing of the representatives of the APPES and of the PES were supported by their societies. We received no funding from pharmaceutical companies.; Mantovani , G , Bastepe , M , Monk , D , De Sanctis , L , Thiele , S , Ahmed , S F , Bufo , R , Choplin , T , De Filippo , G , Devernois , G , Eggermann , T , Elli , F M , Garcia Ramirez , A , Germain-Lee , E L , Groussin , L , Hamdy , N A T , Hanna , P , Hiort , O , Jueppner , H , Kamenicky , P , Knight , N , Le Norcy , E , Lecumberri , B , Levine , M A , Mäkitie , O , Martin , R , Martos-Moreno , G A , Minagawa , M , Murray , P , Pereda , A , Pignolo , R , Rejnmark , L , Rodado , R , Rothenbuhler , A , Saraff , V , Shoemaker , A H , Shore , E M , Silve , C , Turan , S , Woods , P , Zillikens , M C , Perez de Nanclares , G & Linglart , A 2020 , ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ' , Hormone research in paediatrics , vol. 93 , no. 3 , pp. 182-196 . https://doi.org/10.1159/000508985; ORCID: /0000-0002-4547-001X/work/155651939; http://hdl.handle.net/10138/332839; 44877169-dc8b-4984-96e2-e0ec92220465; 000570204500006

الاتاحة: http://hdl.handle.net/10138/332839

المؤلفون: Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordó�ez-Castillo, Andrés R., Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E., García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel

المساهمون: Osasun Saila, Eusko Jaurlaritzako, Instituto de Salud Carlos III

المصدر: Frontiers in Neurology ; volume 11 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2020.00041
https://www.frontiersin.org/article/10.3389/fneur.2020.00041/full

المؤلفون: Hanna, Patrick, Grybek, Virginie, Perez de Nanclares, Guiomar, Tran, Léa C, de Sanctis, Luisa, Elli, Francesca, Errea, Javier, Francou, Bruno, Kamenicky, Peter, Linglart, Léa, Pereda, Arrate, Rothenbuhler, Anya, Tessaris, Daniele, Thiele, Susanne, Usardi, Alessia, Shoemaker, Ashley H, Kottler, Marie-Laure, Jüppner, Harald, Mantovani, Giovanna, Linglart, Agnès

المساهمون: Hanna, Patrick, Grybek, Virginie, Perez de Nanclares, Guiomar, Tran, Léa C, de Sanctis, Luisa, Elli, Francesca, Errea, Javier, Francou, Bruno, Kamenicky, Peter, Linglart, Léa, Pereda, Arrate, Rothenbuhler, Anya, Tessaris, Daniele, Thiele, Susanne, Usardi, Alessia, Shoemaker, Ashley H, Kottler, Marie-Laure, Jüppner, Harald, Mantovani, Giovanna, Linglart, Agnès

مصطلحات موضوعية: EARLY-ONSET OBESITY, GNAS, GROWTH, PSEUDOHYPOPARATHYROIDISM, PSEUDOPSEUDOHYPOPARATHYROIDISM, Endocrinology, Diabetes and Metabolism, Orthopedics and Sports Medicine

Relation: info:eu-repo/semantics/altIdentifier/pmid/29693731; info:eu-repo/semantics/altIdentifier/wos/WOS:000441130200013; volume:33; issue:8; firstpage:1480; lastpage:1488; numberofpages:9; journal:JOURNAL OF BONE AND MINERAL RESEARCH; http://hdl.handle.net/2318/1680490; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85051282801; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1523-4681

الاتاحة: http://hdl.handle.net/2318/1680490
https://doi.org/10.1002/jbmr.3450
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1523-4681

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Carola Zillikens, M., De Nanclares, Guiomar Perez, Linglart, Agnès

المساهمون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thoma, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lar, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Carola Zillikens, M., De Nanclares, Guiomar Perez, Linglart, Agnès

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

Relation: info:eu-repo/semantics/altIdentifier/pmid/29959430; info:eu-repo/semantics/altIdentifier/wos/WOS:000438414300016; volume:14; issue:8; firstpage:476; lastpage:500; numberofpages:25; journal:NATURE REVIEWS. ENDOCRINOLOGY; http://hdl.handle.net/2318/1680489; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049131329; http://www.nature.com/nrendo/index.html; ncbi.nlm.nih.gov/pmc/articles/PMC6541219/

الاتاحة: http://hdl.handle.net/2318/1680489
https://doi.org/10.1038/s41574-018-0042-0
http://www.nature.com/nrendo/index.html