Zobrazeno 1 - 3
of 3
pro vyhledávání: '"MESH: Connexin 26"'
Autor:
Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
International audience; Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a7013bd19b08c22094a168078bf3c5
https://doi.org/10.1007/s11033-022-07245-z
https://doi.org/10.1007/s11033-022-07245-z
Autor:
C Le Marechal, R Birkenhäger, Jill L. Elfenbein, Rachel Fisher, S M Da Silva-Costa, Arti Pandya, Edi Lúcia Sartorato, Karen H. Friderici, H Bolz, Eberhard Schneider, G. Van Camp, Richard J.H. Smith, Christian Kubisch, Hela Azaiez, Ellen Wilch, Hannie Kremer, Alessandra Murgia, Thomas Haaf, L. H. Hoefsloot, I del Castillo, Wim Wuyts
Publikováno v:
Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0
https://doi.org/10.1111/j.1399-0004.2010.01387.x
https://doi.org/10.1111/j.1399-0004.2010.01387.x
Autor:
Isabelle Dreyfus, Christine Chiaverini, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Aude Maza, Nathalie Jonca, Christophe Perrin, Nathalie Cardot-Leccia, Eric Bieth
Publikováno v:
Acta Dermato-Venereologica
Acta Dermato-Venereologica, 2014, 94 (5), pp.591-592. ⟨10.2340/00015555-1818⟩
Acta Dermato-Venereologica, 2014, 94 (5), pp.591-592. ⟨10.2340/00015555-1818⟩
International audience; Keratosis–Ichthyosis–Deafness (KID) syndrome is a rare form of ichthyosis caused by mutations in the gene GJB2 encoding the gap junction protein connexin 26 (Cx26). Connexins are a family of integral membrane proteins form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb91117b6fb3abe9fdd62236951c06a
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03474031
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03474031
