Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Khouloud Rjiba"'
Autor:
Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey
Publikováno v:
Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a
Externí odkaz:
https://doaj.org/article/886ed788882242ce929a902fe1717027
Autor:
Bochra Khadija, Khouloud Rjiba, Sarra Dimassi, Wafa Dahleb, Molka Kammoun, Hanen Hannechi, Najoua Miladi, Neziha Gouider-khouja, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-12 (2022)
Abstract Background Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 dele
Externí odkaz:
https://doaj.org/article/6a112a060de042f39e6cd8ddddc20acb
Autor:
Khouloud Rjiba, Hédia Ayech, Olfa Kraiem, Wafa Slimani, Afef Jelloul, Imen Ben Hadj Hmida, Nabiha Mahdhaoui, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we carried out a molecu
Externí odkaz:
https://doaj.org/article/329170b053014f82af7fa4f13e5faf63
Autor:
Houda Ajmi, Ines Trabelsi, Khouloud Rjiba, Sameh Mabrouk, Noura Zouari, Soumaya Mougou-Zerelli, Alain Verloes, Saoussan Abroug
Publikováno v:
Clinical Dysmorphology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::688c49525808facf6f87f93f3cb1329b
https://doi.org/10.1097/mcd.0000000000000448
https://doi.org/10.1097/mcd.0000000000000448
Autor:
Najla Soyah, Khouloud Rjiba, Ali Saad, Soumaya Mougou-Zerelli, Ken McElreavey, Molka Kammoun, Imen Hadj Hmida
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2021, 64 (9), pp.104285. ⟨10.1016/j.ejmg.2021.104285⟩
European Journal of Medical Genetics, 2021, 64 (9), pp.104285. ⟨10.1016/j.ejmg.2021.104285⟩
International audience; Recently, an autosomal recessive disorder including the triad of microcephaly, infantile epileptic encephalopathy, and permanent neonatal diabetes syndrome (MEDS, OMIM#614231) has emerged as a new distinguishing syndrome. Eigh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94f7517d50961c7572378b7bce179d3
https://doi.org/10.1016/j.ejmg.2021.104285
https://doi.org/10.1016/j.ejmg.2021.104285