المؤلفون: Ali, SR, Bryce, J, Cools, M, Korbonits, M, Beun, JG, Taruscio, D, Danne, T, Dattani, M, Dekkers, OM, Linglart, A, Netchine, I, Nordenstrom, A, Patocs, A, Persani, L, Reisch, N, Smythe, A, Sumnik, Z, Visser, WE, Hiort, O, Pereira, AM, Ahmed, SF

المصدر: European journal of endocrinology. 180(1):89-98

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140076331

المؤلفون: Pham, A.^{Aff1, Aff2}, Selenou, C., Giabicani, E.^{Aff1, Aff3}, Fontaine, V., Marteau, S., Brioude, F.^{Aff1, Aff3}, David, L.^{Aff5, Aff6}, Mitanchez, D.^{Aff1, Aff7}, Sobrier, M. L., Netchine, I.^{Aff1, Aff3, IDs13148022014108_cor10}

المصدر: Clinical Epigenetics. 14(1)

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المؤلفون: Gicquel, C.^Aff3, Azzi, S.^{Aff4, Aff5, Aff6}, Rossignol, S.^{Aff4, Aff5, Aff6}, Demars, J.^Aff3, Brioude, F.^{Aff4, Aff5, Aff6}, Netchine, I.^{Aff4, Aff5, Aff6}, Le Bouc, Y.^{Aff4, Aff5, Aff6}

المساهمون: Seckl, Jonathan R, editor^Aff1, Christen, Yves, editor^Aff2

المصدر: Hormones, Intrauterine Health and Programming. 12:101-129

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المؤلفون: David, A, Hwa, V, Metherell, LA, Netchine, I, Camacho-Hubner, C, Clark, AJL, Rosenfeld, RG, Savage, MO

المصدر: Endocrine reviews. 32(4):472-497

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123038100

المؤلفون: Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T. H., Netchine I., Mastorakos G., Johannsson G., Musholt T. J., Zenker M., Prawitt D., Pereira A. M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

المساهمون: Eggermann, T., Elbracht, M., Kurth, I., Juul, A., Johannsen, T. H., Netchine, I., Mastorakos, G., Johannsson, G., Musholt, T. J., Zenker, M., Prawitt, D., Pereira, A. M., Hiort, O, Salerno, M, Clinical sciences, Growth and Development, Pediatrics, Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T.H., Netchine I., Mastorakos G., Johannsson G., Musholt T.J., Zenker M., Prawitt D., Pereira A.M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Eggermann, T, Elbracht, M, Kurth, I, Juul, A, Johannsen, T H, Netchine, I, Mastorakos, G, Johannsson, G, Musholt, T J, Zenker, M, Prawitt, D, Pereira, A M, Hiort, O & European Reference Network on Rare Endocrine Conditions (ENDO-ERN 2020, ' Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) ', Orphanet Journal of Rare Diseases, vol. 15, 144 . https://doi.org/10.1186/s13023-020-01420-w

مصطلحات موضوعية: 0301 basic medicine, Genetic testing, disorders of sex development, PREDICTION, lcsh:Medicine, CHILDREN, Review, VARIANTS, Hypogonadotropic hypogonadism, Imprinting disorder, 0302 clinical medicine, Pharmacology (medical), Genetics (clinical), Imprinting disorders, Rare endocrine conditions, Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development, Medicine(all), RISK, medicine.diagnostic_test, CHALLENGES, differences, High-Throughput Nucleotide Sequencing, General Medicine, genetic testing, Imprinting disorders, Rare endocrine conditions, Short stature, glucose and insulin homeostasis, Hypogonadotropic hypogonadism, disorders of sex development, Mutation (genetic algorithm), Rare endocrine condition, Identification (biology), Genetic counseling, 030209 endocrinology & metabolism, Computational biology, DIAGNOSIS, Endocrine System Diseases, differences/disorders of sex development, 03 medical and health sciences, Rare Diseases, BECKWITH-WIEDEMANN SYNDROME, medicine, MANAGEMENT, Endocrine system, Humans, business.industry, Network on, lcsh:R, glucose and insulin homeostasis, Human genetics, Short stature, 030104 developmental biology, Mutation, Position paper, business, Short stature - glucose and insulin homeostasis

وصف الملف: text; application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bcdab9c1079b70ef2ccebfd8d9b677

المؤلفون: van der Kaay, D. C. M., Rochtus, A., Binder, G., Kurth, I., Prawitt, D., Netchine, I., Johannsson, Gudmundur, 1960, Hokken-Koelega, A. C. S., Elbracht, M., Eggermann, T.

المصدر: Endocrine Connections. 11(11)

مصطلحات موضوعية: Endocrinology and Diabetes, Endokrinologi och diabetes, genetic testing, growth disturbances, growth retardation, overgrowth, genome medicine, interdisciplinary clinical management

URL الوصول: https://gup.ub.gu.se/publication/326098

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