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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 6, 2024. (Total: 232244Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Nephrocalcinosis and GRHPR[original query]
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
The Journal of urology 2009 May 181 (5): 2146-51.
Levin-Iaina Nomy, Dinour Dganit, Romero Lina, Ron Rotem, Brady R Leo, Cramer Scott D, Holtzman Eli
Etiological Profile of Nephrocalcinosis in Children from Southern India.
Indian pediatrics 2020 3 57 (5): 415-419.
Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisa
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Clinical genetics 2022 10 103 (1): 53-66.
Abid Aiysha, Raza Ali, Khan Abdul Rafay, Firasat Sadaf, Shahid Saba, Hashmi Seema, Zafar Mirza Naqi, Sultan Sajid, Khaliq Shagufta, Rizvi Syed Adib-Ul-Has
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Pediatric nephrology (Berlin, Germany) 2023 6 .
Yukun Liu, Yucheng Ge, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wa
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