المؤلفون: Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd, Cools, Martine, Ahmed, S. Faisal, Flück, Christa E., Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, next study group, SF1

المصدر: EBIOMEDICINE ; ISSN: 2352-3964

مصطلحات موضوعية: Medicine and Health Sciences, General Biochemistry, Genetics and Molecular Biology, General Medicine, Intersex, Genetics of sex determination and differentiation, Broad phenotype, Differences of sex development (DSD)

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HNCPZCJZ3KBEFX9FRCPDMBXNTest; http://hdl.handle.net/1854/LU-01HNCPZCJZ3KBEFX9FRCPDMBXNTest; http://doi.org/10.1016/j.ebiom.2023.104941Test; https://biblio.ugent.be/publication/01HNCPZCJZ3KBEFX9FRCPDMBXN/file/01HNCQ3RJ93X17ZM92FF9A279FTest

الإتاحة: https://doi.org/10.1016/j.ebiom.2023.104941Test
https://biblio.ugent.be/publication/01HNCPZCJZ3KBEFX9FRCPDMBXNTest
http://hdl.handle.net/1854/LU-01HNCPZCJZ3KBEFX9FRCPDMBXNTest
https://biblio.ugent.be/publication/01HNCPZCJZ3KBEFX9FRCPDMBXN/file/01HNCQ3RJ93X17ZM92FF9A279FTest

المؤلفون: Mönig, Isabel, Schneidewind, Julia, Johannsen, Trine H., Juul, Anders, Werner, Ralf, Lünstedt, Ralf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Hiort, Olaf

المصدر: Mönig , I , Schneidewind , J , Johannsen , T H , Juul , A , Werner , R , Lünstedt , R , Birnbaum , W , Marshall , L , Wünsch , L & Hiort , O 2022 , ' Pubertal development in 46,XY patients with NR5A1 mutations ' , Endocrine , vol. 75 , no. 2 , pp. 601-613 . https://doi.org/10.1007/s12020-021-02883-yTest

مصطلحات موضوعية: Differences of sex development, NR5A1 mutation, Pubertal development, Virilization

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s12020-021-02883-yTest
https://curis.ku.dk/portal/da/publications/pubertal-development-in-46xy-patients-with-nr5a1-mutationsTest(d4b1e6c3-5b16-4191-8d32-4aa656cb815f).html
https://curis.ku.dk/ws/files/313866977/Pubertal.pdfTest

المؤلفون: Mönig, Isabel, Steenvoorden, Danielle, de Graaf, Johan P., Ahmed, S. Faisal, Taruscio, Domenica, BEUN, Johan, Johannsen, Trine Holm, Juul, Anders, Hiort, Olaf, Pereira, Alberto M.

المصدر: http://lobid.org/resources/99370673530106441Test#!, 71(3):549-554.

مصطلحات موضوعية: Europe [MeSH], European Reference Network on Rare Endocrine Conditions (Endo-ERN), Patient Care [MeSH], Virtual consultation, Endocrine System Diseases [MeSH], Humans [MeSH], Review, Health care inequalities, Disease Management [MeSH], Clinical Patient Management System (CPMS), Rare Diseases [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6444302Test; https://doi.org/10.1007/s12020-021-02628-xTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851636Test/

الإتاحة: https://doi.org/10.1007/s12020-021-02628-xTest
https://repository.publisso.de/resource/frl:6444302Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851636Test/

المؤلفون: Mönig, Isabel, Hoppmann, Julia, Johannsen, Trine Holm, Juul, Anders, Werner, Ralf, Lünstedt, Ralf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Hiort, Olaf

المصدر: http://lobid.org/resources/99370673530106441Test#!, 75(2):601-613.

مصطلحات موضوعية: Steroidogenic Factor 1/genetics [MeSH], Female [MeSH], Mutation [MeSH], Humans [MeSH], Retrospective Studies [MeSH], Differences of sex development, Original Article, Pubertal development, Puberty/genetics [MeSH], Disorder of Sex Development, 46,XY/genetics [MeSH], Sexual Development [MeSH], Virilization, Phenotype [MeSH], NR5A1 mutation

العلاقة: https://repository.publisso.de/resource/frl:6444294Test; https://doi.org/10.1007/s12020-021-02883-yTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816419Test/

الإتاحة: https://doi.org/10.1007/s12020-021-02883-yTest
https://repository.publisso.de/resource/frl:6444294Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816419Test/

المؤلفون: Mönig, Isabel, Döhnert, Ulla, Hiort, Olaf

المصدر: Monatsschrift Kinderheilkunde ; volume 171, issue S2, page 159-164 ; ISSN 0026-9298 1433-0474

مصطلحات موضوعية: Surgery, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00112-023-01727-5Test

العنوان البديل: Newborn child with ambiguous genitals: Preparation for the medical specialist examination: part 122. (English)

المؤلفون: Mönig, Isabel, Döhnert, Ulla, Hiort, Olaf

المصدر: Monatsschrift Kinderheilkunde; 2023 Suppl 2, Vol. 171, p159-164, 6p

المؤلفون: Werner, Ralf, Mönig, Isabel, Lünstedt, Ralf, Wünsch, Lutz, Thorns, Christoph, Reiz, Benedikt, Krause, Alexandra, Schwab, Karl Otfried, Binder, Gerhard, Holterhus, Paul-Martin, Hiort, Olaf

المصدر: PLOS ONE. - 12, 5 (2017) , e0176720, ISSN: 1932-6203

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/142274Test

الإتاحة: https://doi.org/10.1371/journal.pone.0176720Test
https://freidok.uni-freiburg.de/data/142274Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-1422746Test
https://freidok.uni-freiburg.de/dnb/download/142274Test

المؤلفون: Kouri, Chrysanthi, Sommer, Grit, Ahmed, Faisal, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Camats, Nuria, Cetinkaya, Semra, Claahsen-van der Grinten, Hedi L., Cools, Martine, Darendeliler, Fatma Feyza, Davies, Justin H., Fabbri-Scallet, Helena, Globa, Evgenia, Guerra-Junior, Gil, Guran, Tulay, Hannema, Sabine, Hiort, Olaf, Janner, Marco, Kalinchenko, Natalia, Lachlan, Katherine, Kolesinska, Zofia, l'Allemand, Dagmar, Lang-Muritano, Mariarosaria, Lucas-Herald, Angela, de Lapiscina Martin, Idoia Martinez, Mazen, Inas, Moenig, Isabel, Muhrer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burce, Poyrazoglu, Sukran, Tack, Lloyd, Tadokoro-Cuccaro, Rieko, Wasniewska, Malgorzata, Yavas, Zehra, Zelinska, Nataliya, Fluck, Christa E.

المصدر: Kouri , C , Sommer , G , Ahmed , F , Balsamo , A , Baronio , F , Bryce , J , Camats , N , Cetinkaya , S , Claahsen-van der Grinten , H L , Cools , M , Darendeliler , F F , Davies , J H , Fabbri-Scallet , H , Globa , E , Guerra-Junior , G , Guran , T , Hannema , S , Hiort , O , Janner , M , Kalinchenko , N , Lachlan , K , Kolesinska , Z , l'Allemand , D , Lang-Muritano , ....

العلاقة: https://research.vumc.nl/en/publications/d84d0ddd-e2a3-4879-af3a-0fb774b2b9e5Test

الإتاحة: https://research.vumc.nl/en/publications/d84d0ddd-e2a3-4879-af3a-0fb774b2b9e5Test

المؤلفون: Camats, Nuria, Tack, Lloyd, Cetinkaya, Semra, Bryce, Jillian, Poyrazoglu, Sukran, Kouri, Chrysanthi, Sommer, Grit, Ahmed, Faisal, Balsamo, Antonio, Baronio, Federico, Tadokoro-Cuccaro, Rieko, Wasniewska, Malgorzata, Yavas, Zehra, Zelinska, Nataliya, Fluck, Christa E., Orman, Burce, Nordenstrom, Anna, Niedziela, Marek, Muhrer, Julia, Moenig, Isabel, Mazen, Inas, de Lapiscina Martin, Idoia Martinez, Lucas-Herald, Angela, Lang-Muritano, Mariarosaria, l'Allemand, Dagmar, Kolesinska, Zofia, Lachlan, Katherine, Kalinchenko, Natalia, Janner, Marco, Hiort, Olaf, Hannema, Sabine, GÜRAN, TÜLAY, Guerra-Junior, Gil, Globa, Evgenia, Fabbri-Scallet, Helena, Davies, Justin H., Darendeliler, Fatma Feyza, Cools, Martine, Claahsen-van der Grinten, Hedi L.

المساهمون: Univ Bern ,, 2740455

مصطلحات موضوعية: Endokrinoloji ve Metabolizma Hastalıkları, İç Hastalıkları, Çocuk Sağlığı ve Hastalıkları, Dahili Tıp Bilimleri, Sağlık Bilimleri, Tıp, PEDİATRİ, Klinik Tıp (MED), Klinik Tıp, ENDOKRİNOLOJİ VE METABOLİZMA, Health Sciences, Life Sciences, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Endocrine and Autonomic Systems

العلاقة: HORMONE RESEARCH IN PAEDIATRICS; Kouri C., Sommer G., Ahmed F., Balsamo A., Baronio F., Bryce J., Camats N., Cetinkaya S., Claahsen-van der Grinten H. L. , Cools M., et al., "Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants", HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.87-89, 2021; vv_1032021; av_246230fa-cf2f-43f8-9b44-9d4889210c56; http://hdl.handle.net/20.500.12627/169066Test; 94; SUPPL 1; 87; 89

الإتاحة: https://doi.org/20.500.12627/169066Test
https://hdl.handle.net/20.500.12627/169066Test

المؤلفون: Mönig, Isabel, Schneidewind, Julia, Johannsen, Trine H., Juul, Anders, Werner, Ralf, Lünstedt, Ralf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Hiort, Olaf

المصدر: Endocrine; February 2022, Vol. 75 Issue: 2 p601-613, 13p