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    1. Graber, D; Antignac, C; Deschenes, G; Coulin, A; Hermouet, Y; Pedespan, JM; Fontan, D; Ponsot, G
      Cerebellar vermis hypoplasias with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes

      ARCHIVES DE PEDIATRIE
    2. Desguerre, I; Ponsot, G
      Vaccination against hepatitis-B and neurological manifestations in the child

      ARCHIVES DE PEDIATRIE
    3. Moutard, ML; Lewin, F; Adamsbaum, C; Gelot, A; Rodriguez, D; Ponsot, G
      Place of the neuropediatrician in prenatal diagnostics

      ARCHIVES DE PEDIATRIE
    4. Mikaelloff, Y; Moreau, T; Debouverie, M; Pelletier, J; Lebrun, C; Gout, O; Pedespan, JM; Van Hulle, C; Vermersch, P; Ponsot, G
      Interferon-beta treatment in patients with childhood onset multiple sclerosis

      JOURNAL OF PEDIATRICS
    5. Mikaeloff, Y; Jambaque, I; Mayer, M; Ponsot, G; Kalifa, G; Carel, JC
      Benefit of intravenous immunoglobulin in autoimmune stiff-person syndrome in a child

      JOURNAL OF PEDIATRICS
    6. Rodriguez, D; Gauthier, F; Bertini, E; Bugiani, M; Brenner, M; N'guyen, S; Goizet, C; Gelot, A; Surtees, R; Pedespan, JM; Hernandorena, X; Troncoso, M; Uziel, G; Messing, A; Ponsot, G; Pham-Dinh, D; Dautigny, A; Boespflug-Tanguy, O
      Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Mikaeloff, Y; Plouin, P; Dhondt, JL; Ponsot, G; Dulac, O
      Clinical and EEG video-polygraphic features of epileptic spasms in a childwith dihydropteridine reductase deficiency. Efficiency of hydrocortisone

      EPILEPTIC DISORDERS
    8. Renouil, M; Fourmaintraux, A; Cartault, F; Rodriguez, D; Razafinarivo-Schoreitz, S; Chaurand, G; Wendling, C; Bangui, A; Ponsot, G
      Severe infantile anorexia in the French island of Reunion: a new autosomalrecessive disease?

      ARCHIVES DE PEDIATRIE
    9. Mikaeloff, Y; Pinton, F; Sevin, C; Dhondt, JL; Ponsot, G
      Progressive epileptic encephalopathy revealing a biopterin metabolism deficiency.

      ARCHIVES DE PEDIATRIE
    10. Pinard, JM; Marsac, C; Barkaoui, E; Desguerre, I; Birch-Machin, M; Reinert, P; Ponsot, G
      Riboflavin-response Leigh syndrome and leukodystrophy associated to partial succinate dehydrogenase deficiency.

      ARCHIVES DE PEDIATRIE
    11. Dupont, JM; Le Tessier, D; Rabineau, D; Cuisset, L; Vasseur, C; Jeanpierre, M; Delpech, M; Pinton, F; Ponsot, G; Denavit, MF
      Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome

      JOURNAL OF MEDICAL GENETICS
    12. Faure, S; Bordelais, I; Marquette, C; Rittey, C; Campos-Castello, J; Goutieres, F; Ponsot, G; Weissenbach, J; Lebon, P
      Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

      CLINICAL GENETICS
    13. Lebre, AS; Durr, A; Jedynak, P; Ponsot, G; Vidailhet, M; Agid, Y; Brice, A
      DYT1 mutation in French families with idiopathic torsion dystonia

      BRAIN
    14. Ducros, A; Denier, C; Joutel, A; Vahedi, K; Michel, A; Darcel, F; Madigand, M; Guerouaou, D; Tison, F; Julien, J; Hirsch, E; Chedru, F; Bisgard, C; Lucotte, G; Despres, P; Billard, C; Barthez, MA; Ponsot, G; Bousser, MG; Tournier-Lasserve, E
      Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. Rodriguez, D; Gelot, A; della Gaspera, B; Robain, O; Ponsot, G; Sarlieve, LL; Ghandour, S; Pompidou, A; Dautigny, A; Aubourg, P; Pham-Dinh, D
      Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases

      ACTA NEUROPATHOLOGICA
    16. VITAL A; FONTAN D; JULIEN J; TALON P; HERON B; ROUTON MC; PONSOT G; VITAL C
      CONGENITAL INSENSITIVITY TO PAIN WITH ANHYDROSIS - REPORT OF 2 UNRELATED CASES

      Journal of the peripheral nervous system
    17. LEBBAR A; DUPONT JM; CUISSET L; PINTON F; VASSEUR C; LETESSIER D; DENAVIT MF; PONSOT G; DELPECH M; RABINEAU D
      MARKER CHROMOSOME - ANGELMAN - UNIPARENTAL DISOMY - FISH - CLINICAL-FEATURES OF PRADER-WILLI-SYNDROME IN A GIRL WITH METHYLATION STATUS OF ANGELMAN-SYNDROME

      European journal of human genetics
    18. DESPORTES V; FRANCIS F; PINARD JM; DESGUERRE I; MOUTARD ML; SNOECK I; MEINERS LC; CAPRON F; CUSMAI R; RICCI S; MOTTE J; ECHENNE B; PONSOT G; DULAC O; CHELLY J; BELDJORD C
      DOUBLECORTIN IS THE MAJOR GENE CAUSING X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA (SCLH)

      Human molecular genetics (Print)
    19. GRABER D; ALESSANDRI JL; COMBES JC; PONSOT G
      SEVERE INFANTILE ANOREXIA WITH PROGRESSIV E NEUROLOGICAL CHANGES (8 CASES) - HIGH PREVALENCE OF THIS HEREDITARY DISORDERS ON REUNION ISLAND

      Archives de pediatrie
    20. Cuisset, L; Vasseur, C; Jeanpierre, M; Delpech, M; Noseda, G; Ponsot, G
      Potential pitfall in Prader-Willi syndrome and Angelman syndrome moleculardiagnosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. HARPEY JP; HERON D; PRUDENT M; CHARPENTIER C; RUSTIN P; PONSOT G; CORMIERDAIRE V
      DIFFUSE LEUKODYSTROPHY IN AN INFANT WITH CYTOCHROME-C-OXIDASE DEFICIENCY

      Journal of inherited metabolic disease
    22. RABIER D; DIRY C; ROTIG A; RUSTIN P; HERON B; BARDET J; PARVY P; PONSOT G; MARSAC C; SAUDUBRAY JM; MUNNICH A; KAMOUN P
      PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION

      Journal of inherited metabolic disease
    23. TABARKI B; HERON B; PONSOT G
      CEREBRAL INFARCTION IN PEDIATRIC-PATIENTS - A REVIEW OF 60 CASES

      Annales de pediatrie
    24. BOITIER E; DEGOUL F; DESGUERRE I; CHARPENTIER C; FRANCOIS D; PONSOT G; DIRY M; RUSTIN P; MARSAC C
      A CASE OF MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A MUSCLE COENZYME Q(10) DEFICIENCY

      Journal of the neurological sciences
    25. JAMBAQUE I; MOTTRON L; PONSOT G; CHIRON C
      AUTISM AND VISUAL AGNOSIA IN A CHILD WITH RIGHT OCCIPITAL LOBECTOMY

      Journal of Neurology, Neurosurgery and Psychiatry
    26. DESPORTES V; CARRIE A; BILLUART P; KIEFFER V; BIENVENU T; VINET MC; BELDJORD C; KAHN A; PONSOT G; CHELLY J; MOUTARD ML
      INHERITED MICRODELETION IN XP21.3-22.1 INVOLVED IN NONSPECIFIC MENTAL-RETARDATION

      Clinical genetics
    27. MARSAC C; BENELLI C; DESGUERRE I; DIRY M; FOUQUE F; DEMEIRLEIR L; PONSOT G; SENECA S; POGGI F; SAUDUBRAY JM; ZABOT MT; FONTAN D; LISSENS W
      BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY

      Human genetics
    28. TELVI L; DUPUY O; ION R; FEINGOLD J; PONSOT G
      THE POSSIBLE IMPLICATION OF RARE AUTOSOMAL FRAGILE SITES IN MENTAL-RETARDATION - STUDY OF 9 FAMILIES

      Cytogenetics and cell genetics
    29. SAAD J; ADAMSBAUM C; TERDJMAN P; PONSOT G
      QUID - DEVICS-NEUROMYELITIS-OPTICA

      Journal de radiologie
    30. DESPORTES V; SOUFIR N; CARRIE A; BILLUART P; BIENVENU T; VINET MC; BELDJORD C; PONSOT G; KAHN A; BOUE J; CHELLY J
      GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX-47) IS LOCATED IN XQ22.3-Q24

      American journal of medical genetics
    31. DEGOUL F; FRANCOIS D; DIRY M; PONSOT G; DESGUERRE I; HERON B; MARSAC C; MOUTARD ML
      A NEAR HOMOPLASMIC T8993G MTDNA MUTATION IN A PATIENT WITH ATYPIC LEIGH-SYNDROME NOT PRESENT IN THE MOTHERS TISSUES

      Journal of inherited metabolic disease
    32. RODRIGUEZ D; DESGUERRE I; ADAMSBAUM C; MOUTARD ML; PONSOT G
      ACUTE POSTINFECTIOUS LEUKOENCEPHALITIS IN PEDIATRIC-PATIENTS - A REVIEW OF 5 CASES

      Annales de pediatrie
    33. DESPORTES V; PINARD JM; SMADJA D; MOTTE J; BOESPFLUGTANGUY O; MOUTARD ML; DESGUERRE I; BILLUART P; CARRIE A; BIENVENU T; VINET MC; BACHNER L; BELDJORD C; DULAC O; KAHN A; PONSOT G; CHELLY J
      DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/

      Journal of Medical Genetics
    34. DESPORTES V; BILLUART P; CARRIE A; BACHNER L; BIENVENU T; VINET MC; BELDJORD C; PONSOT G; KAHN A; BOUE J; CHELLY J
      A GENE FOR DOMINANT NONSPECIFIC X-LINKED MENTAL-RETARDATION IS LOCATED IN XQ28

      American journal of human genetics
    35. DROMER F; MATHOULIN S; DUPONT B; LAPORTE A; CHARDON H; GREZE H; HAYETTE MP; CHABASSE D; MARTIN M; PULIK M; HAUTEFORT B; LEPENNEC MP; LARFOUILLOUX J; FALLER JP; BARALE T; BOUGESMICHEL C; DELZANIG G; COUPRIE B; BOUGNOUX ME; MASURE O; LEFORT C; DUHAMEL C; BIDAULT C; ZAEGEL M; ALLARD C; LAURENS E; DORMONT J; BEYTOUT J; MOLLO JL; BOUSSOUGANT Y; CORDIER F; BRETAGNE S; GAILLARD JP; PORTIER H; GRISE G; LEBLANC A; BOUCHARD I; NAUCIEL C; LEBEAU B; BOUREE P; LAGARDE A; VINCENT J; DESAILLYCHANSON MA; ELOY O; GRILLOT ML; GOSSET X; CAPBERN P; DARDE ML; LEMERCIER Y; PIENS MA; JANIN G; TREMOLIERES F; QUILICI M; EME A; PIQUET M; REYNES J; GETTLER V; TREVOUX A; KURES L; MORIN O; KERNBAUM S; GARITOUSSAINT M; DELAGE A; BARTHEZ JP; GIUDICELLI Y; JACQUEMIN JL; BOUVRY M; PATEYRON F; TOUBAS D; GUIGEN C; BRASSEUR C; LAFAYE JMP; SIRONDELLE G; GAUTHRON M; JANVIER M; GODINEAU N; DORCHE G; FEGUEUX S; ROUE R; SIMONEAU M; MALHERBE P; KOENIG H; CAHEN P; MUZELLEC Y; LINAS MD; BAIXENCH MT; DECLOSETS F; VERGER J; SALIBA F; PATEY O; DATRY A; LAVARDE V; DERECONDO J; PONSOT G; LAMER C; HENNEQUIN C; TRAORE F; ARBORIO M; DEMATONS C; ROUX P; CHOCHILLON C; DELUOL AM; POIROT JL; DUPOUYCAMET J; BLANC V; BASSET D
      EPIDEMIOLOGY OF CRYPTOCOCCOSIS IN FRANCE - A 9-YEAR SURVEY (1985-1993)

      Clinical infectious diseases
    36. DROMER F; MATHOULIN S; DUPONT B; LETENNEUR L; RONIN O; CHARDON H; HAYETTE MP; BOUCHARA P; HAUTEFORT B; LEPENNEC MP; LARFOUILLOUX J; FALLER M; REBOUX G; COUPRIE B; BOUGNOUX ME; MASURE O; LEFORT C; DUHAMEL C; ZAEGEL M; CAMBON M; BOUSSOUGANT Y; BRETAGNE S; GESLIN M; BERTHELOT M; CAMERLYNCK P; GRISE G; GAUTHIER M; BOUCHARD I; NAUCIEL C; LEBEAU B; ROMAND S; DESAILLYCHANSON MA; ELOY O; GRILLOT ML; BOYER E; GOSSET X; BOUTEILLE B; PIENS MA; JANIN G; TREMOLIERES F; NGUYEN M; EME A; RASPAIL P; KURES L; MORIN O; FELZ M; LEFICHOUX Y; DELAGE A; BARTHEZ JP; NOUAILHAT F; LACROIX C; BLANCHARD A; TOUBAS D; CHEVRIER S; BRASSEUR C; LAFAYE JMP; GODINEAU N; DORCHE G; ROUE R; WALLER J; CAHEN P; MUZELLEC Y; LINAS MD; BAIXENCH MT; VINOCOUR M; VERGER M; RIOU R; ROMAN S; PATEY O; DATRY A; LAVARDE V; DERECONDO J; PONSOT G; LAMER C; HENNEQUIN C; TRAORE F; ARBORIO M; DEMATONS C; ROUX P; CHOCHILLON C; DELUOL AM; BUOT G; POIROT JL; DUPOUYCAMET J; BLANC V; SEGONDS M
      INDIVIDUAL AND ENVIRONMENTAL-FACTORS ASSOCIATED WITH INFECTION DUE TOCRYPTOCOCCUS-NEOFORMANS SEROTYPE-D

      Clinical infectious diseases
    37. FONTAINE B; NICOLE S; TOPALOGLU H; BENHAMIDA C; BEIGHTON P; SPAANS F; CANTU JMA; BAKOURI S; ROMERO N; RICKER K; BARROSNUNEZ P; PONSOT G; BENHAMIDA M; WEISSENBACH J; HENTATI F; LEHMANNHORN F
      RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL

      Human genetics
    38. STEINER J; ADAMSBAUM C; DESGUERRES I; LALANDE G; RAYNAUD F; PONSOT G; KALIFA G
      HYPOMELANOSIS OF ITO AND BRAIN ABNORMALITIES - MRI FINDINGS AND LITERATURE-REVIEW

      Pediatric radiology
    39. DOFFE L; ADAMSBAUM C; ROLLAND Y; ROBAIN O; PONSOT G; KALIFA G
      CORPUS-CALLOSUM AGENESIS AND PARASAGITTAL INTERHEMISPHERIC CYST

      Journal de radiologie
    40. TELVI L; ION A; CAREL JC; DESGUERRE I; PIRAUD M; BOUTIN AM; FEINGOLD J; PONSOT G; FELLOUS M; MCELREAVEY K
      A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES

      Journal of Medical Genetics
    41. JAMBAQUE I; CHIRON C; PONSOT G; DULAC O
      CENTRAL VISUAL IMPAIRMENT IN CHILDREN WITH EARLY-ONSET OF EPILEPSY

      International journal of psychology
    42. BIRCHMACHIN MA; MARSAC C; PONSOT G; PARFAIT B; TAYLOR RW; RUSTIN P; MUNNICH A
      BIOCHEMICAL INVESTIGATIONS AND IMMUNOBLOT ANALYSES OF 2 UNRELATED PATIENTS WITH AN ISOLATED DEFICIENCY IN COMPLEX-II OF THE MITOCHONDRIAL RESPIRATORY-CHAIN

      Biochemical and biophysical research communications
    43. NICOLE S; BENHAMIDA C; BEIGHTON P; BAKOURI S; BELAL S; ROMERO N; VILJOEN D; PONSOT G; SAMMOUD A; WEISSENBACH J; FARDEAU M; HAMIDA MB; FONTAINE B; HENTATI F
      LOCALIZATION OF THE SCHWARTZ-JAMPEL SYNDROME (SJS) LOCUS TO CHROMOSOME 1P34-P36.1 BY HOMOZYGOSITY MAPPING

      Human molecular genetics
    44. LISSENS W; DESGUERRE I; BENELLI C; MARSAC C; FOUQUE F; HAENGGELI C; PONSOT G; SENECA S; LIEBAERS I; DEMEIRLEIR L
      PYRUVATE-DEHYDROGENASE DEFICIENCY IN A FEMALE DUE TO A 4-BASE-PAIR DELETION IN EXON-10 OF THE E1-ALPHA-GENE

      Human molecular genetics
    45. PINARD JM; DESGUERRE I; MOTTE J; DULAC O; PONSOT G
      SUBCORTICAL LAMINAR HETEROTOPIA AND LISSE NCEPHALY - BRAIN MALFORMATIONS WITH X-LINKED INHERITANCE

      Archives de pediatrie
    46. ROLLAND Y; ADAMSBAUM C; SELLIER N; ROBAIN O; PONSOT G; KALIFA G
      OPERCULAR MALFORMATIONS - CLINICAL AND MRI FEATURES IN 11 CHILDREN

      Pediatric radiology
    47. DEGOUL F; DIRY M; RODRIGUEZ D; ROBAIN O; FRANCOIS D; PONSOT G; MARSAC C; DESGUERRE I
      CLINICAL, BIOCHEMICAL, AND MOLECULAR ANALYSIS OF A MATERNALLY INHERITED CASE OF LEIGH-SYNDROME (MILS) ASSOCIATED WITH THE MTDNA T8993G POINT MUTATION

      Journal of inherited metabolic disease
    48. PINARD JM; DESGUERRE I; MOTTE J; DULAC O; PONSOT G
      SUBCORTICAL LAMINAL HETEROTOPIA AND LISSE NCEPHALIA - X-LINKED INHERITANCE OF BRAIN MALFORMATIONS

      Revue neurologique
    49. PLOUIN P; OLIVEIRA T; DULAC O; PONSOT G
      NEONATAL SEIZURES - ELECTROCLINICAL STUDY

      Epilepsia
    50. GELOT A; DEVILLEMEUR TB; BORDARIER C; RUCHOUX MM; MORAINE C; PONSOT G
      DEVELOPMENTAL ASPECTS OF TYPE-II LISSENCEPHALY - COMPARATIVE-STUDY OFDYSPLASTIC LESIONS IN FETAL AND POSTNATAL BRAINS

      Acta Neuropathologica
    51. TELVI L; LEBOYER M; CHIRON C; FEINGOLD J; PONSOT G
      IS RETT-SYNDROME A CHROMOSOME BREAKAGE SYNDROME

      American journal of medical genetics
    52. DEMEIRLEIR L; LISSENS W; BENELLI C; PONSOT G; DESGUERRE I; MARSAC C; RODRIGUEZ D; SAUDUBRAY JM; POGGI F; LIEBAERS I
      ABERRANT SPLICING OF EXON-6 IN THE PYRUVATE DEHYDROGENASE-E1-ALPHA MESSENGER-RNA LINKED TO A SILENT MUTATION IN A LARGE FAMILY WITH LEIGH ENCEPHALOMYELOPATHY

      Pediatric research
    53. JOUTEL A; BOUSSER MG; BIOUSSE V; LABAUGE P; CHABRIAT H; JULIEN J; GOUTTIERE F; PONSOT G; PINSARD N; NIBBIO A; MACIAZEK J; WEISSENBACH J; LATHROP GM; TOURNIERLASSERVE E
      LINKAGE ANALYSIS IN FAMILIAL HEMIPLEGIC MIGRAINE FAMILIES, WITH CHROMOSOME-19 MARKERS

      Neurology
    54. CHINCHILLA D; DULAC O; ROBAIN O; PLOUIN P; PONSOT G; PINEL JF; GRABER D
      REAPPRAISAL OF RASMUSSENS-SYNDROME WITH SPECIAL EMPHASIS ON TREATMENTWITH HIGH-DOSES OF STEROIDS

      Journal of Neurology, Neurosurgery and Psychiatry
    55. JOUTEL A; DUCROS A; VAHEDI K; LABAUGE P; DELRIEU O; PINSARD N; MANCINI J; PONSOT G; GOUTTIERE F; GASTAUT JL; MAZIACECK J; WEISSENBACH J; BOUSSER MG; TOURNIERLASSERVE E
      GENETIC-HETEROGENEITY OF FAMILIAL HEMIPLEGIC MIGRAINE

      American journal of human genetics
    56. BOESPFLUGTANGUY O; MIMAULT C; MELKI J; CAVAGNA A; GIRAUD G; DINH DP; DASTUGUE B; DAUTIGNY A; AICARDI J; GOUTTIERES F; BAUMANN N; BERTINI E; DAVID A; HENOCQ A; LANDRIEU P; TARDIEU M; LEBERRE C; LEMAREC B; LYON G; MAYER M; PINARD JM; PONSOT G; MATHIEU M; SAINTIVE JP; SAURA R; VALLEE L
      GENETIC HOMOGENEITY OF PELIZAEUS-MERZBACHER-DISEASE - TIGHT LINKAGE TO THE PROTEOLIPOPROTEIN LOCUS IN 16 AFFECTED FAMILIES

      American journal of human genetics
    57. JAMBAQUE I; DELLATOLAS G; DULAC O; PONSOT G; SIGNORET JL
      VERBAL AND VISUAL MEMORY IMPAIRMENT IN CHILDREN WITH EPILEPSY

      Neuropsychologia
    58. DULAC O; FEINGOLD J; PLOUIN P; CHIRON C; PAJOT N; PONSOT G
      GENETIC PREDISPOSITION TO WEST SYNDROME

      Epilepsia
    59. DESGUERRE I; PEDESPAN JM; BUISSONNIERE R; COUVREUR J; PONSOT G
      ACQUIRED CEREBRAL TOXOPLASMOSIS IN AN IMMUNOCOMPETENT CHILD

      Archives francaises de pediatrie
    60. HERON B; GAUTIER A; DULAC O; PONSOT G
      BIOTINIDASE DEFICIENCY - A BIOTIN-RESPONS IVE ENCEPHALOPATHY WITH EPILEPSY

      Archives francaises de pediatrie


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Documento generato il 20/10/20 alle ore 00:36:25