Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Mental Retardation and PAH[original query] |
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[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007 Apr 24 (2): 210-2. Ye Jun, Liu Xiao-qing, Qiu Wen-juan, Han Lian-shu, Zhou Jian-de, Zhang Ya-fen, Gu Xue-f |
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations. Metabolic brain disease 2014 Mar 29 (1): 131-8. Alibakhshi Reza, Moradi Keyvan, Mohebbi Zahra, Ghadiri Keyghob |
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Journal of medical genetics 2013 Aug 50 (8): 500-6. Kerstjens-Frederikse Wilhelmina S, Bongers Ernie M H F, Roofthooft Marcus T R, Leter Edward M, Douwes J Menno, Van Dijk Arie, Vonk-Noordegraaf Anton, Dijk-Bos Krista K, Hoefsloot Lies H, Hoendermis Elke S, Gille Johan J P, Sikkema-Raddatz Birgit, Hofstra Robert M W, Berger Rolf M |
Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran. International journal of preventive medicine 2017 8 89. Zamanfar Daniel, Jalali Hossein, Mahdavi Mohammad Reza, Maadanisani Morteza, Zaeri Hossein, Asadpoor Eynoll |
Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran. Clinical laboratory 2022 1 68 (1): . Hosseini Elaheh, Mousavi Seyed S, Zamanfar Daniel, Hashemi-Soteh S M Bagh |
Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria. Iranian biomedical journal 2023 1 27 (1): 46-57. Namdar Aligoodarzi Pegah, Rostami Golale, Kazemi Nezhad Seyed Reza, Hamid Mohamm |
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