Records 1 - 4
| 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
| 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
| [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