Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Adnene Mlika"'
Autor:
Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described
Externí odkaz:
https://doaj.org/article/6e8d2af9d0624869a30bede1b6354a49
Autor:
Meriam HADJ AMOR, Sarra Dimassi, Hanen Hannachi, Amel Taj, Adnene Mlika, Khaled Ben Helal, Ali Saad, Soumaya Mougou-Zerelli
Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db66d511c72a0140bb8596415f2d29ba
https://doi.org/10.21203/rs.2.13208/v2
https://doi.org/10.21203/rs.2.13208/v2
Autor:
Meriam HADJ AMOR, Sarra Dimassi, Hanen Hannachi, Amel Taj, Adnene Mlika, Khaled Ben Helal, Ali Saad, Soumaya Mougou-Zerelli
Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8ab5a3fb26bb4dd63f5732fe1bb8161
https://doi.org/10.21203/rs.2.13208/v1
https://doi.org/10.21203/rs.2.13208/v1
Autor:
Amel Taj, Khaled Ben Helel, Ali Saad, Wafa Slimani, Meriam Hadj Amor, Hanene Hannachi, Soumaya Mougou-Zerelli, Adnene Mlika, Sarra Dimassi
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21910608b540b9605a61d07ba8b4fe59
https://pubmed.ncbi.nlm.nih.gov/32028920
https://pubmed.ncbi.nlm.nih.gov/32028920
Autor:
Saber Hamami, F. Amri, Wafa Ben Romdane, Gustavo Pérez de Nanclares, Donia Elhayek, Amel Haj Khelil, Nadia Leban, Mohamed Neji Gueddiche, Slaheddine Chouchane, Samir M'Rabet, Monia Troudi, Jemni Ben Chibani, Gema Ariceta, Luis Castaño, Adnene Mlika
Publikováno v:
BMC Medical Genetics
Addi. Archivo Digital para la Docencia y la Investigación
instname
Addi. Archivo Digital para la Docencia y la Investigación
instname
Background Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + −ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9194b5f2301257c31892f0a0305f02
http://europepmc.org/articles/PMC4225572
http://europepmc.org/articles/PMC4225572