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The Case: Hypocalcemia, chronic renal failure and dysmorphism.
Burtey S, Dussol B, Philip N, Berland Y. Burtey S, et al. Among authors: philip n. Kidney Int. 2008 Dec;74(11):1495-6. doi: 10.1038/ki.2008.430. Kidney Int. 2008. PMID: 19008915 Free article. No abstract available.
[Hypocalcemia and microdeletion 22q11.2].
Philip N, Reynaud R. Philip N, et al. Arch Pediatr. 2008 Jun;15(5):648-9. doi: 10.1016/S0929-693X(08)71862-1. Arch Pediatr. 2008. PMID: 18582701 French. No abstract available.
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. Among authors: philip n. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
Hypokalaemia and dysmorphia, is there a link?
Burtey S, Sternberg D, Nguyen K, Philip N, Berland Y, Dussol B. Burtey S, et al. Among authors: philip n. NDT Plus. 2009 Jun;2(3):222-4. doi: 10.1093/ndtplus/sfp009. Epub 2009 Feb 4. NDT Plus. 2009. PMID: 25983995 Free PMC article.
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.
Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N. Bretelle F, et al. Among authors: philip n. Eur J Med Genet. 2010 Nov-Dec;53(6):367-70. doi: 10.1016/j.ejmg.2010.07.008. Epub 2010 Jul 24. Eur J Med Genet. 2010. PMID: 20659598
Prenatal diagnosis of 22q11 microdeletion.
Levy-Mozziconacci A, Piquet C, Heurtevin PC, Philip N. Levy-Mozziconacci A, et al. Among authors: philip n. Prenat Diagn. 1997 Nov;17(11):1033-7. Prenat Diagn. 1997. PMID: 9399351 Clinical Trial.
587 results