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The European Respiratory Journal|August 6, 2004
Interstitial lung disease in a baby with a de novo mutation in the SFTPC geneF Brasch, M Griese, M Tredano, et al.
Blood|March 15, 1993
In vitro infection of human macrophages with human T-cell leukemia virus type 1T de Revel, A Mabondzo, G Gras, et al.
Revue Neurologique|September 10, 2013
[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)]A Drouet, F Zagnoli, T Fassier, et al.
American Journal of Medical Genetics|December 18, 2001
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)C Houdayer, C Bonaïti-Pellié, C Erguy, et al.
American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.
Journal of Clinical Pathology|December 24, 2008
Neonatal screening for sickle cell disease in FranceJ Bardakdjian-Michau, M Bahuau, D Hurtrel, et al.
Annales De Genetique|January 1, 1997
Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour pronenessM Bahuau, D Vidaud, M Kujas, et al.
American Journal of Medical Genetics|December 18, 1996
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis associationM Bahuau, W Flintoff, B Assouline, et al.
Annales De Genetique|August 6, 1999
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease traitC Houdayer, V Soupre, M Rosenberg-Bourgin, et al.
Human Mutation|November 26, 1999
Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiencyM Tredano, R M van Elburg, A G Kaspers, et al.
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