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706 results

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Page 1
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Schiff M, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3. Eur J Med Genet. 2010. PMID: 20599530
Leigh's disease due to a new mutation in the PDHX gene.
Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H. Schiff M, et al. Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818. Ann Neurol. 2006. PMID: 16566017
Early-onset hyperargininaemia: a severe disorder?
Schiff M, Benoist JF, Cardoso ML, Elmaleh-Bergès M, Forey P, Santiago J, Ogier de Baulny H. Schiff M, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S175-8. doi: 10.1007/s10545-009-1137-5. Epub 2009 Apr 20. J Inherit Metab Dis. 2009. PMID: 19381865
Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M. Lambrecht A, et al. Among authors: schiff m. Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937393 Free PMC article.
[Neonatal weight loss with neurological degeneration].
Cardoen L, Schiff M, Lambron J, Rega A, Virlouvet AL, Biran V, Eleni Dit Trolli S, Elmaleh-Bergès M, Alison M. Cardoen L, et al. Among authors: schiff m. Arch Pediatr. 2016 Dec;23(12):1273-1275. doi: 10.1016/j.arcped.2016.09.012. Epub 2016 Nov 2. Arch Pediatr. 2016. PMID: 27816399 French. No abstract available.
[Neonatal presentation of maple syrup urine disease].
Cardoen L, Schiff M, Lambron J, Rega A, Virlouvet AL, Biran V, Eleni Dit Trolli S, Elmaleh-Bergès M, Alison M. Cardoen L, et al. Among authors: schiff m. Arch Pediatr. 2016 Dec;23(12):1291-1294. doi: 10.1016/j.arcped.2016.09.011. Epub 2016 Nov 2. Arch Pediatr. 2016. PMID: 27816400 French. No abstract available.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: schiff m. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
706 results