Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.

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This database contains published literature on genetic associations and other human genome epidemiology

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• Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.  
  Metabolic brain disease 2017 Jul .
  Razipour Masoumeh, Alavinejad Elaheh, Sajedi Seyede Zahra, Talebi Saeed, Entezam Mona, Mohajer Neda, Kazemi-Sefat Golnaz-Ensieh, Gharesouran Jalal, Setoodeh Aria, Mohaddes Ardebili Seyyed Mojtaba, Keramatipour Mohamm
• [Analysis of clinical phenotype and genotype of unstable Hemoglobin Rush].  
  Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Feb 34 (1): 15-20.
  Ge Shijun, Yang Biqing, Yi Wei, Huang Kai, Liu Hongxian, Huang Xiaoqin, Chu Jiayou, Yang Zhaoqi
• Right sided aortic arch in the age of microarray.  
  Prenatal diagnosis 2017 Feb .
  O'Mahony Edward F, Hutchinson Darren P, McGillivray George, Nisbet Debbie L, Palma-Dias Ricar
• Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.  
  Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan .
  Vilboux Thierry, Doherty Daniel A, Glass Ian A, Parisi Melissa A, Phelps Ian G, Cullinane Andrew R, Zein Wadih, Brooks Brian P, Heller Theo, Soldatos Ariane, Oden Neal L, Yildirimli Deniz, Vemulapalli Meghana, Mullikin James C, Nisc Comparative Sequencing Program , Malicdan May Christine V, Gahl William A, Gunay-Aygun Mer
• Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.  
  Prenatal diagnosis 2016 Nov .
  Finucane Brenda, Lincoln Sharyn, Bailey Lindsay, Martin Christa Le

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