المؤلفون: AlAbdi, L, Maddirevula, S, Shamseldin, HE, Khouj, E, Helaby, R, Hamid, H, Almulhim, A, Hashem, MO, Abdulwahab, F, Abouyousef, O, Alqahtani, M, Altuwaijri, N, Jaafar, A, Alshidi, T, Alzahrani, F, Al-Sagheir, AI, Mansour, AM, Alawaji, A, Aldhilan, A, Alhashem, A, Alhemidan, A, Nabil, A, Khan, AO, Aljohar, A, Alsaleem, B, Tabarki, B, Lourenco, CM, Faqeih, E, AlShail, E, Almesaifri, F, Mutairi, FA, Alzaidan, H, Morsy, H, Alshihry, H, Alkuraya, H, Girisha, KM, Al-Fayez, K, Al-Rubeaan, K, kraoua, L, Alnemer, M, Tulbah, M, Zaki, MS, Alfadhel, M, Abouelhoda, M, Nezarati, MM, Al-Qattan, M, Shboul, M, Abanemai, M, Al-Muhaizea, MA, Al-owain, M, Bafaqeeh, MS, Alshammari, M, Abukhalid, M, Alsahan, N, Derar, N, Meriki, N, Bohlega, SA, Tala, SA, Alhassan, S, Wali, S, Mohamed, S, Coskun, S, Saadeh, S, Tkemaladze, T, Kurdi, W, Alhumaidi, ZA, Rahbeeni, Z, Alkuraya, FS

المصدر: Nature Communications , 14 (1) , Article 5269. (2023)

مصطلحات موضوعية: Alleles, Causality, Exome, Hope, Information Dissemination

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184241/1/s41467-023-40909-3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184241Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10184241/1/s41467-023-40909-3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10184241Test/

المؤلفون: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, BRUSCO, Alfredo, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

المساهمون: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O

مصطلحات موضوعية: sex reversal, XX male, sox3, sox9

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25351776; info:eu-repo/semantics/altIdentifier/wos/WOS:000358006100009; volume:23; issue:8; firstpage:1025; lastpage:1032; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2318/1509053Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937526184; http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014237a.htmlTest

الإتاحة: https://doi.org/10.1038/ejhg.2014.237Test
http://hdl.handle.net/2318/1509053Test
http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014237a.htmlTest

المؤلفون: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O., GRAMMATICO, Paola

المساهمون: Vetro, A, Dehghani, Mr, Kraoua, L, Giorda, R, Beri, S, Cardarelli, L, Merico, M, Manolakos, E, Bustamante, Ap, Castro, A, Radi, O, Camerino, G, Brusco, A, Sabaghian, M, Sofocleous, C, Forzano, F, Palumbo, P, Palumbo, O, Calvano, S, Zelante, L, Grammatico, Paola, Giglio, S, Basly, M, Chaabouni, M, Carella, M, Russo, G, Bonaglia, Mc, Zuffardi, O.

مصطلحات موضوعية: Testis development, SOX9, SOX3

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25351776; info:eu-repo/semantics/altIdentifier/wos/WOS:000358006100009; firstpage:1; lastpage:8; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/617462Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937526184

الإتاحة: https://doi.org/10.1038/ejhg.2014.237Test
http://hdl.handle.net/11573/617462Test

المؤلفون: Kraoua, L, Chaabouni, M, Trabelsi, M, Chelly, I, Maazoul, F, Ben Abdallah, N, Boukthir, S, Barsaoui, S, Chaabouni, H, M’rad, R

المصدر: Clinical Genetics ; volume 77, issue 6, page 601-603 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2010.01389.xTest

المؤلفون: Kharrat, M, Trabelsi, S, Chaabouni, M, Maazoul, F, Kraoua, L, Ben Jemaa, L, Gandoura, N, Barsaoui, S, Morel, Y, M’rad, R, Chaabouni, H

المصدر: Clinical Genetics ; volume 78, issue 4, page 398-401 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2010.01403.xTest

المؤلفون: Abaied, L., Trabelsi, M., Chaabouni, M., Kharrat, M., Kraoua, L., M'rad, R., Tebib, N., Maazoul, F., Chaabouni, H.

المصدر: American Journal of Medical Genetics Part A ; volume 152A, issue 1, page 141-146 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.33179Test

المؤلفون: Kammoun, I., Chaabouni, M., Trabelsi, M., Ouertani, I., Kraoua, L., Chelly, I., M’rad, R., Ben Jemaa, L., Maâzoul, F., Chaabouni, H.

المصدر: Annales d'Endocrinologie ; volume 69, issue 5, page 440-445 ; ISSN 0003-4266

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ando.2008.01.007Test
https://api.elsevier.com/content/article/PII:S0003426608000917?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003426608000917?httpAccept=text/plainTest

المؤلفون: Abaied, L., Trabelsi, M., Chaabouni, M., Kharrat, M., Kraoua, L., M'rad, R., Tebib, N., Maazoul, F., Chaabouni, H.

المصدر: American Journal of Medical Genetics. Part A; January 2010, Vol. 152 Issue: 1 p141-146, 6p