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pro vyhledávání: '"Hend Dridi"'
Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype
Autor:
Soumaya Mougou-Zerelli, Rim Khelifi, Afef Jelloul, Houda Ajmi, Sarra Dimassi, Wafa Slimani, Najla Soyeh, Khouloud Rjiba, Manel Dardour, Hamza Hadj Abdallah, Hend Dridi, Asma Guedria, Molka Kammoun, Hela Ben Khelifa, Hayet Mkadem, Ines Hssairi Guidara, Hayet Ben Hamida, Khaled Ben Helel, Habib Kharrat, Essia Sboui, Elies Naffeti, Naoufel Gaddour, Faouzi Maatouk, Hatem El Ghezal, Ali Saad, Ons Nouira, Afif Zouari
Background Williams Beuren Syndrome is a multisystemic disorder manifested by congenital heart defects associated with dysmorphic features, intellectual delay, and a particular behavioural profile due to a microdeletion in 7q11.2. Methods To establis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9c293816195e7d860f1a839aadd47cd
https://doi.org/10.21203/rs.3.rs-2139963/v1
https://doi.org/10.21203/rs.3.rs-2139963/v1
Autor:
Jürgen Kohlhase, Jonathan Levy, Dan Lipsker, Véronique Lambert, Frédéric Adjimi, Damien Haye, Mohamed Agha, Hend Dridi, Alain Verloes, Maurice Lambert
Publikováno v:
American Journal of Medical Genetics Part A. 170:2750-2755
Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in
Autor:
Damien, Haye, Hend, Dridi, Jonathan, Levy, Véronique, Lambert, Maurice, Lambert, Mohamed, Agha, Frédéric, Adjimi, Jürgen, Kohlhase, Dan, Lipsker, Alain, Verloes
Publikováno v:
American journal of medical genetics. Part A. 170(10)
Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in