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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease and QDPR[original query]
Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
BMC medical genetics 2016 17 (1): 65.
Zahra Charmaine, Tabone Christine, Camilleri Graziella, Felice Alex E, Farrugia Rosienne, Bezzina Wettinger Stephan
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
Molecular genetics & genomic medicine 2022 11 10 (12): e2081.
Sadat Fatemi Seyedeh Helia, Eshraghi Peyman, Ghanei Mahmoud, Hamzehloei Tayeb
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
Biomedicines 2023 7 11 (7): .
Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavalla
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