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The Eleventh Robert J. Gorlin Conference on DysmorphologyDONNAI, Dian.American journal of medical genetics. 2002, Vol 112, Num 3, issn 0148-7299, 82 p.Conference Proceedings

Diagnostic anténatal et problèmes éthiques. Discussion = Ethical issues of prenatal diagnosisPAPIERNIK, E; RENE, L; BINET, J.-P et al.Chirurgie (Paris). 1990, Vol 116, Num 6-7, pp 541-545, issn 0001-4001Article

Hyperplasie congénitale des surrénales, aider les parents à trouver leurs repères : L'éducation thérapeutique, spécificités en pédiatrieGAUTHERET, Lydie.Soins. Pédiatrie, puériculture (Print). 2011, Num 259, issn 1259-4792, p. 27Article

Inborn errors of metabolism : the flux from Mendelian to complex diseasesLANPHER, Brendan; BRUNETTI-PIERRI, Nicola; LEE, Brendan et al.Nature reviews. Genetics (Print). 2006, Vol 7, Num 6, pp 449-460, issn 1471-0056, 12 p.Article

Congenital and hereditary nail dystrophies: an embryological approach to classificationTELFER, N. R; BARTH, J. H; DAWBER, R. P. R et al.Clinical and experimental dermatology (Print). 1988, Vol 13, Num 3, pp 160-163, issn 0307-6938Article

Règles de bonnes pratiques en génétique constitutionnelle à des fins médicales (hors diagnostic prénatal)2013, 17 p.Report

Polysplenia syndrome with congenital short pancreasHERMAN, T. E; SIEGEL, M. J.American journal of roentgenology (1976). 1991, Vol 156, Num 4, pp 799-800, issn 0361-803XArticle

Erreurs innées du métabolisme de la lysine = In bron errors of lysine metabolismDIVRY, P; VIANEY-LIAUD, C; MATHIEU, M et al.Annales de biologie clinique (Paris). 1991, Vol 49, Num 1, pp 27-35, issn 0003-3898Conference Paper

Congenital arhiniaCOURTNEY, Julia; MCCABE, John; CRAIG, Stan et al.Archives of disease in childhood. Fetal and neonatal edition. 2014, Vol 99, Num 1, issn 1359-2998, p. F75Article

Fièvre Méditerranéenne Familiale (FMF) Protocole national de diagnostic et de soins2013, 44 p.Report

The fetus as a patient : surgical considerationsHARRISON, M. R; ADZICK, N. S.Annals of surgery. 1991, Vol 213, Num 4, pp 279-291, issn 0003-4932Article

Konnatales Neuroblastom und PlazentametastasenMUTZ, I. D; STERING, R.Monatsschrift für Kinderheilkunde. 1991, Vol 139, Num 3, pp 154-156, issn 0026-9298Article

Lipodystrophia centrifugalis sacralis infantilis: a 15-year follow-up observationCAPUTO, R.Acta dermato-venereologica. 1989, Vol 69, Num 5, pp 442-443, issn 0001-5555Article

Congenital Diaphragmatic HerniaSHAHLAEE, Abtin; SEYED BEHZAD JAZAYERI.Archives of pediatrics & adolescent medicine. 2012, Vol 166, Num 10, pp 959-960, issn 1072-4710, 2 p.Article

Bronchogenic cystDIERCKS, Gillian; HADDAD, Joseph; GRUNSTEIN, Eli et al.Archives of otolaryngology, head & neck surgery. 2009, Vol 135, Num 5, issn 0886-4470, 517-519 [3 p.]Article

Anémie de Diamond-Blackfan : Le côté obscur de la biogenèse des ribosomes = Diamond-Blackfan anemia reveals the dark side of ribosome biogenesisAGUISSA-TOURE, Almass-Houd; DA COSTA, Lydie; LEBLANC, Thierry et al.MS. Médecine sciences. 2009, Vol 25, Num 1, pp 69-76, issn 0767-0974, 8 p.Article

Arthrogryposis multiplex congenita (Amyoplasia) : An orthopaedic perspectiveBEVAN, Wesley P; HALL, Judith G; BAMSHAD, Micheal et al.Journal of pediatric orthopedics. 2007, Vol 27, Num 5, pp 594-600, issn 0271-6798, 7 p.Article

Mucoviscidose : épidémiologie, diagnostic, évolution, pronostic, traitement = Cystic fibrosis. Epidemiology, diagnosis, evolution, prognosis, treatmentBROUARD, J; DUHAMEL, J. F.La Revue du praticien (Paris). 1992, Vol 42, Num 16, pp 2107-2114, issn 0035-2640Article

Detection and management of congenital abnormalities. IICHAMBERLAIN, G.BMJ. British medical journal (International ed.). 1991, Vol 302, Num 6783, pp 1013-1016, issn 0959-8146Article

Observations and current operative management of congenital lumbar hernias during infancyFAKHRY, S. M; AZIZKHAN, R. G.Surgery, gynecology & obstetrics. 1991, Vol 172, Num 6, pp 475-479, issn 0039-6087Article

Declining mortality from Down syndrome : no cause for complacencyLancet (British edition). 1990, Vol 335, Num 8694, pp 888-889, issn 0140-6736Article

Pachyonychia congenita : manisfestations for the otolaryngologistHERSH, S. P.Archives of otolaryngology, head & neck surgery. 1990, Vol 116, Num 6, pp 732-734, issn 0886-4470Article

Bilateral symmetrical epibulbar osseous choristomaBYOUNG JIN KIM; KAZIM, Michael.Ophthalmology (Rochester, MN). 2006, Vol 113, Num 3, pp 456-458, issn 0161-6420, 3 p.Article

Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of Aα proline-18 by leucineYOSHIDA, N; OKUMA, M; HIRATA, H et al.Blood. 1991, Vol 78, Num 1, pp 149-153, issn 0006-4971Article

Étude des anomalies congénitales de la glycosylation = Congenital disorders of glycosylationDURAND, G; DUPRE, Th; VUILLAUMIER-BARROT, S et al.Annales pharmaceutiques françaises. 2003, Vol 61, Num 5, pp 330-339, issn 0003-4509, 10 p.Article

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