Author:
Vianey-Saban Christine,Acquaviva Cécile,Cheillan David,Collardeau-Frachon Sophie,Guibaud Laurent,Pagan Cécile,Pettazzoni Magali,Piraud Monique,Lamazière Antonin,Froissart Roseline
Subject
Genetics (clinical),Genetics
Reference81 articles.
1. Al Kaissi A, Kurz H, Bock W, Pärtan G et al (2014) Agenesis of the corpus callosum and skeletal deformities in two unrelated patients: Analysis via MRI and Radiography. Case Rep Orthop 2014:186973
2. Alfadhel M, Alrifai MT, Trujillano D et al (2015) Asparagine synthetase deficiency: new inborn errors of metabolism. JIMD Rep 22:11–16
3. Anderson G, Smith VV, Malone M, Sebire NJ (2005) Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre. J Clin Pathol 58:1305–1310
4. Andersson HC, Kratz L, Kelley R (2002) Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet 113(4):315–319
5. Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A (2016) Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. Pediatr Radiol 46:357–364
Cited by
27 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献