Mild wolf-hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletionTITOMANLIO, L; ROMANO, A; CONTI, A et al.American journal of medical genetics. 2004, Vol 127A, Num 2, pp 197-200, issn 0148-7299, 4 p.Article

Inv dup del (1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qterDE BRASI, D; ROSSI, E; GIGLIO, S et al.American journal of medical genetics. 2001, Vol 104, Num 2, pp 127-130, issn 0148-7299Article

Prise en charge des crises épileptiques chez l'enfant : une analyse d'impact budgétaireBOURGUIGNON, S; MARQUE, S; AUVIN, S et al.Journal de gestion et d'économie médicales. 2013, Vol 31, Num 7-8, pp 445-456, issn 2262-5305, 12 p.Article

Référentiel métier-compétences pour la surspécialité de médecine d'urgence pédiatrique = Syllabus for the subspecialty of Paediatric Emergency MedicineMERCIER, J.-C; MARTINOT, A; PAREZ, N et al.Annales françaises de médecine d'urgence. 2012, Vol 2, Num 2, pp 139-146, issn 2108-6524, 8 p.Article

Case 2 A child with abnormal ocular movementsTITOMANLIO, L; BARGUI, F; GIBERTINI, G. G et al.Acta paediatrica (Oslo). 2007, Vol 96, Num 7, pp 1097-1098, issn 0803-5253, 2 p.Article

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsPASSEMARD, S; TITOMANLIO, L; GUIMIOT, F et al.Neurology. 2009, Vol 73, Num 12, pp 962-969, issn 0028-3878, 8 p.Article

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 geneTITOMANLIO, L; DE BRASI, D; BUONINCONTI, A et al.Clinical genetics. 2004, Vol 65, Num 2, pp 156-157, issn 0009-9163, 2 p.Article

Geleophysic dysplasia : 7-year follow-up study of a patient with an intermediate formTITOMANLIO, L; DELLA CASA, R; LECORA, M et al.American journal of medical genetics. 1999, Vol 86, Num 1, pp 82-85, issn 0148-7299Article

Prise en charge par les parents des convulsions de l'enfant au domicile = Parental management of children's seizures at homeMORETTI, R; JULLIAND, S; HUET, S et al.Annales françaises de médecine d'urgence. 2013, Vol 3, Num 4, pp 205-211, issn 2108-6524, 7 p.Article

Case of Myhre syndrome with autism and peculiar skin histological findingsTITOMANLIO, L; MARZANO, M. G; ROSSI, E et al.American journal of medical genetics. 2001, Vol 103, Num 2, pp 163-165, issn 0148-7299Article

A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibsPARENTI, G; FILOCAMO, M; TITOMANLIO, L et al.Clinical genetics. 1998, Vol 53, Num 4, pp 281-285, issn 0009-9163Article