Zobrazeno 1 - 4
of 4
pro vyhledávání: '"MARIAM GHUGHUNISHVILI"'
Autor:
Tinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili, Irakli Rtskhiladze, Zurab Zaalishvili, Nata Nakaidze, Michael J Lentze, Elene Abzianidze, Volha Skrahina, Arndt Rolfs
Publikováno v:
SAGE Open Medical Case Reports, Vol 11 (2023)
Cystic fibrosis is the most common, life-threatening, autosomal recessive disease in the Caucasian population. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, which encodes a chloride ion channel expressed o
Externí odkaz:
https://doaj.org/article/97e44f9c089640dca60d1850eb010678
Autor:
Tinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili, Michael J. Lentze, Elene Abzianidze, Volha Skrahina, Arndt Rolfs
Publikováno v:
Respiratory Medicine Case Reports, Vol 40, Iss , Pp 101750- (2022)
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combination of I1234V and 1677delTA variants with classic CF features, the third child with a combination of I1234V and L997F variants with atypical CF, and th
Externí odkaz:
https://doaj.org/article/c5d0b793b46f498ea1473ef90b49595c
Publikováno v:
EXPERIMENTAL & CLINICAL MEDICINE GEORGIA.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ee847e9b3476c692822ca214cc2b3a3
https://doi.org/10.52340/jecm.2023.01.15
https://doi.org/10.52340/jecm.2023.01.15
Autor:
Holger Thiele, Mariam Ghughunishvili, Maria Wehner, Cristina Has, Axel Schmidt, Daisy Axt, Nicole Cesarato, Matthias Geyer, Regina C. Betz, Fitnat Buket Basmanav, Michael J. Lentze
Publikováno v:
American Journal of Medical Genetics Part A. 185:3900-3904
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac29a07f11c63a31063a1e90428d546a
https://doi.org/10.1002/ajmg.a.62438
https://doi.org/10.1002/ajmg.a.62438