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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Nephropathic Cystinosis[original query]
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.
Clinical journal of the American Society of Nephrology : CJASN 2017 8 12 (10): 1634-1641.
Topaloglu Rezan, Gulhan Bora, ?nözü Mihriban, Canpolat Nur, Yilmaz Alev, Noyan Aytül, Dursun ?smail, Gökçe ?brahim, Gürgöze Metin Kaya, Akinci Nurver, Baskin Esra, Serdaro?lu Erkin, Demircio?lu Kiliç Beltinge, Yüksel Selçuk, Övünç Hacihamdio?lu Duygu, Korkmaz Emine, Hayran Mutlu, Ozaltin Fatih,
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
Hierarchical processing of visual stimuli in nephropathic cystinosis.
Journal of inherited metabolic disease 2019 1 42 (3): 545-552.
Sathappan Aakash, Trauner Dor
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
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