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158 results

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Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Arıkan-Ayyıldız Z, Caglayan-Sozmen S, Isık S, Deterding R, Dishop MK, Couderc R, Epaud R, Louha M, Uzuner N. Arıkan-Ayyıldız Z, et al. Among authors: couderc r. Pediatr Pulmonol. 2014 Mar;49(3):E112-5. doi: 10.1002/ppul.22976. Epub 2013 Dec 17. Pediatr Pulmonol. 2014. PMID: 24347240
A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress.
Takcı Ş, Anuk-İnce D, Louha M, Couderc R, Çakar N, Köseoğlu RD, Ateş Ö. Takcı Ş, et al. Among authors: couderc r. Turk J Pediatr. 2017;59(4):483-486. doi: 10.24953/turkjped.2017.04.018. Turk J Pediatr. 2017. PMID: 29624232 Free article.
Takci S, Anuk-Ince D, Louha M, Couderc R, Cakar N, Koseoglu RD, Ates O. A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress. ...
Takci S, Anuk-Ince D, Louha M, Couderc R, Cakar N, Koseoglu RD, Ates O. A rare large mutation involving two exons of the SP-B …
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R. Nattes E, et al. Among authors: couderc r. Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26. Respir Med. 2017. PMID: 28732825 Free article. Clinical Trial.
New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D. Guillot L, et al. Among authors: couderc r. J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13. J Med Genet. 2009. PMID: 19443464 Free article.
Discovery of a large deletion of KAL1 in 2 deaf brothers.
Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, Bonnet C, Louha M, Gherbi S, Garabedian EN, Couderc R, Denoyelle F. Marlin S, et al. Among authors: couderc r. Otol Neurotol. 2013 Dec;34(9):1590-4. doi: 10.1097/MAO.0000000000000228. Otol Neurotol. 2013. PMID: 24232061
Molecular diagnosis of genetic deafness.
Jonard L, Marlin S, Louha M, Bonnet C, Couderc R, Garabedian N, Denoyelle F; all the team of Centre de Référence des Surdités Génétiques, Hôpital Trousseau, APHP, Paris, France. Jonard L, et al. Among authors: couderc r. Clin Biochem. 2011 May;44(7):510-511. doi: 10.1016/j.clinbiochem.2011.02.031. Clin Biochem. 2011. PMID: 22036352 No abstract available.
158 results