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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
JIMD Rep. 2019 Jul 1;49(1):70-79. doi: 10.1002/jmd2.12055. eCollection 2019 Sep.
JIMD Rep. 2019.
PMID: 31497484
Free PMC article.
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.
Scalais E, et al. Among authors: chafai r.
Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28.
Eur J Paediatr Neurol. 2013.
PMID: 23816342
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The European Society for Paediatric Nephrology study of pediatric renal care in Europe: comparative analysis 1998-2017.
Prikhodina L, Ehrich J, Shroff R, Topaloglu R, Levtchenko E; European Society for Paediatric Nephrology.
Prikhodina L, et al.
Pediatr Nephrol. 2020 Jan;35(1):103-111. doi: 10.1007/s00467-019-04378-5. Epub 2019 Oct 29.
Pediatr Nephrol. 2020.
PMID: 31664556
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Clinicopathological study of primary gastric lymphomas in the central region of Tunisia, with survival analysis.
Belaid I, Chabchoub I, Mejri N, Zaghouani H, Chafai R, Ezairi F, Hochlaf M, Gharbi O, Fatma LB, Ahmed SB.
Belaid I, et al. Among authors: chafai r.
Eur J Gastroenterol Hepatol. 2013 Sep;25(9):1060-7. doi: 10.1097/MEG.0b013e3283636233.
Eur J Gastroenterol Hepatol. 2013.
PMID: 23778310
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[Granulocytic sarcoma in the mandibular gingiva of an HIV+ patient].
Chafai R, Gharbi O, Trabelsi A, Chabchoub I, Lettaif O, Ben Ahmed S.
Chafai R, et al.
Rev Stomatol Chir Maxillofac. 2010 Jun;111(3):172-4. doi: 10.1016/j.stomax.2009.09.012. Epub 2010 Jan 12.
Rev Stomatol Chir Maxillofac. 2010.
PMID: 20060990
French.
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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J.
Botzenhart EM, et al. Among authors: chafai r.
Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9362.
Hum Mutat. 2005.
PMID: 16088922
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Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22.
de Beaufort C, Schneider F, Chafai R, Colette JM, Delneste D, Pierquin G.
de Beaufort C, et al. Among authors: chafai r.
Genet Couns. 2000;11(2):181-2.
Genet Couns. 2000.
PMID: 10893671
No abstract available.
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