Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tinatin Davitaia"'
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes. The phenotypes can
Externí odkaz:
https://doaj.org/article/d85c872c614c4b75a0c729d479e670a6
Autor:
Ana Perdomo-Ramirez, Gema Ariceta, Mireia Aguirre, Felix Claverie-Martin, Tinatin Davitaia, Elena Ramos-Trujillo
Publikováno v:
Gene. 689
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b53822643204f80111f50d4a4cb005b6
https://pubmed.ncbi.nlm.nih.gov/30576809
https://pubmed.ncbi.nlm.nih.gov/30576809
Autor:
Radovan Bogdanovic, Maria Szczepańska, Alaleh Gheissari, Bassam Saeed, Nikoleta Printza, Irena Bałasz-Chmielewska, Dorota Drozdz, Francesco Emma, Agnieszka Firszt-Adamczyk, Caterina Mele, Lina Maria Serna Higuita, Salim Caliskan, Jutta Gellermann, Marcin Tkaczyk, Sevinç Emre, Rafael T. Krmar, Paraskevas Iatropoulos, Ipek Akil, Gianluca Caridi, Ali Anarat, Anna Wasilewska, Jiri Dusek, Ozan Ozkaya, Michel Fischbach, Giacomo D. Simonetti, Franz Schaefer, Ozlem Erdogan, Gianluigi Ardissino, Marta Azocar, Oguz Soylemezoglu, Esra Baskin, Sevgi Mir, Gian Marco Ghiggeri, Faysal Gok, Anna Medyńska, Eva Simkova, Fatih Ozaltin, Augustina Jankauskiene, Ayse Balat, Ramona Maranta, Bruno Ranchin, Anette Melk, Elisa Benetti, Tinatin Davitaia, Tomasz Jarmoliński, Elzbieta Kuzma-Mroczkowska, Pelin Ertan, Amira Peco-Antic, Beata S. Lipska, Helena Jardim, Agnes Trautmann
Publikováno v:
Kidney International; Vol 84
KIDNEY INTERNATIONAL
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
KIDNEY INTERNATIONAL
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
WOS: 000321044400026
PubMed ID: 23515051
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyze
PubMed ID: 23515051
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyze
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b81d3971dd80d8461ed9f587576afbe7
https://ruj.uj.edu.pl/xmlui/handle/item/108966
https://ruj.uj.edu.pl/xmlui/handle/item/108966
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.