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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 14, 2024. (Total: 234352Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Cystinosis and CTNS[original query]
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
Molecular genetics and metabolism 2011 1 102 (3): 339-42.
Wamelink M M C, Struys E A, Jansen E E W, Blom H J, Vilboux T, Gahl W A, Kömhoff M, Jakobs C, Levtchenko E
Common mutation causes cystinosis in the majority of black South African patients.
Pediatric nephrology (Berlin, Germany) 2015 Apr 30 (4): 595-601.
Owen E Patricia, Nandhlal Jenisha, Leisegang Felicity, Van der Watt George, Nourse Peter, Gajjar Pri
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2017 Feb .
Ghazi Farideh, Hosseini Rozita, Akouchekian Mansoureh, Teimourian Shahram, Ataei Kachoei Zohreh, Otukesh Hassan, Gahl William A, Behnam Bab
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Frontiers in pediatrics 2019 4 7 89.
Najafi Maryam, Tamandani Dor Mohammad Kordi, Azarfar Anoush, Bakey Zeineb, Behjati Farkhondeh, Antony Dinu, Schüle Isabel, Sadeghi-Bojd Simin, Karimiani Ehsan Ghayoor, Schmidts Miri
Molecular based newborn screening in Germany: Follow-up for cystinosis.
Molecular genetics and metabolism reports 2019 10 21 100514.
Hohenfellner Katharina, Bergmann Carsten, Fleige Tobias, Janzen Nils, Burggraf Siegfried, Olgemöller Bernd, Gahl William A, Czibere Ludwig, Froschauer Sonja, Röschinger Wulf, Vill Katharina, Harms Erik, Nennstiel U
Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Frontiers in genetics 2022 5 13 863157.
Savostyanov K V, Pushkov A A, Shchagina O A, Maltseva V V, Suleymanov E A, Zhanin I S, Mazanova N N, Fisenko A P, Mishakova P S, Polyakov A V, Balanovska E V, Zinchenko R A, Tsygin A
Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis.
International journal of molecular sciences 2023 2 24 (3): .
Nemutlu Emirhan, Ozaltin Fatih, Yabanoglu-Ciftci Samiye, Gulhan Bora, Eylem Cemil Can, Baysal ?pek, Gök-Topak Elif Damla, Ulubayram Kezban, Sezerman Osman Ugur, Ucar Gulberk, K?r Sedef, Topaloglu Rez
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