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La ricerca find articoli where authors phrase all words ' Journel, H' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 14 riferimenti
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    1. Giraudeau, F; Taine, L; Biancalana, V; Delobel, B; Journel, H; Missirian, C; Lacombe, D; Bonneau, D; Parent, P; Aubert, D; Hauck, Y; Croquette, MF; Toutain, A; Mattei, MG; Loiseau, HA; David, A; Vergnaud, G
      Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

      JOURNAL OF MEDICAL GENETICS
    2. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    3. Verloes, A; Lesenfants, S; Barr, M; Grange, DK; Journel, H; Lombet, J; Mortier, G; Roeder, E
      Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Scotet, V; de Braekeleer, M; Roussey, M; Rault, G; Parent, P; Dagorne, M; Journel, H; Lemoigne, A; Codet, JP; Catheline, M; David, V; Chaventre, A; Dugueperoux, I; Verlingue, C; Quere, I; Mercier, B; Audrezet, MP; Ferec, C
      Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

      LANCET
    5. CORMIERDAIRE V; WOLF C; LEMERRER M; NIVELON A; BONNEAU D; JOURNEL H; FELLMANN F; MUNNICH A; ROUX C
      ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES

      American journal of medical genetics
    6. MATHIEU M; PIUSSAN C; THEPOT F; GOUGET A; LACOMBE D; PEDESPAN JM; SERVILLE F; FONTAN D; RUFFIE M; NIVELONCHEVALLIER A; AMBLARD F; CHAUVEAU P; MOIROT H; CHABROLLE JP; CROQUETTE MF; TEYSSIER M; PLAUCHU H; PELISSIER MC; GILGENKRANTZ S; TURCCAREL C; TURLEAU C; PRIEUR M; LEMERRER M; GONZALES M; JOYE N; TAILLEMITE JL; BOUILLIE J; ESCHARD C; MOTTE J; JOURNEL H
      COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN)

      Annales de genetique
    7. CORMIERDAIRE V; WOLF C; MUNNICH A; LEMERRER M; NIVELON A; BONNEAU D; JOURNEL H; FELLMANN F; CHEVY F; ROUX C
      ABNORMAL CHOLESTEROL-BIOSYNTHESIS IN THE SMITH-LEMLI-OPITZ AND THE LETHAL ACRODYSGENITAL SYNDROMES

      European journal of pediatrics
    8. FEREC C; VERLINGUE C; PARENT P; MORIN JF; CODET JP; RAULT G; DAGORNE M; LEMOIGNE A; JOURNEL H; ROUSSEY M; LEMAREC B; CATHELINE M; AUDREZET MP; MERCIER B
      NEONATAL SCREENING FOR CYSTIC-FIBROSIS - RESULT OF A PILOT-STUDY USING BOTH IMMUNOREACTIVE TRYPSINOGEN AND CYSTIC-FIBROSIS GENE MUTATION ANALYSES

      Human genetics
    9. BONNEAU D; SOUIED E; GERBER S; ROZET JM; DHAENS E; JOURNEL H; PLESSIS G; WEISSENBACH J; MUNNICH A; KAPLAN J
      NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY

      Journal of Medical Genetics
    10. MATHIEU M; PIUSSAN C; THEPOT F; SERVILLE F; FONTA D; RUFFLER M; NIVELONCHEVALLIER A; TURCCAREL C; CHAUVEAU P; MOIROT H; CHABROLLE JP; MOTTE J; ESCHARD C; CROQUETTE MF; JOURNEL H; TURLEAU C; GOUGET A; PELISSIER MC; TEYSSIER M; PLAUCHU H; AMBLARD F; GILGENKRANZ S; LEMERRER M; PRIEUR M
      IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P

      American journal of human genetics
    11. SCHRANDERSTUMPEL C; MEINECKE P; WILSON G; GILLESSENKAESBACH G; TINSCHERT S; KONIG R; PHILIP N; RIZZO R; SCHRANDER J; PFEIFFER L; MAATKIEVIT A; VANDERBURGT I; VANESSEN T; LATTA E; HILLIG U; VERLOES A; JOURNEL H; FRYNS JP
      THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS

      European journal of pediatrics
    12. LEBRIS MJ; GIOVANGRANDI Y; AUDREZET MP; JOURNEL H; FEREC C
      CONFINED PLACENTAL TRISOMY-7 - PITFALL FOR CYSTIC-FIBROSIS PRENATAL-DIAGNOSIS

      Lancet
    13. EDERY P; PELET A; MULLIGAN LM; ABEL L; ATTIE T; DOW E; BONNEAU D; DAVID A; FLINTOFF W; JAN D; JOURNEL H; LACOMBE D; LEMERRER M; MEIJERS C; PARENT P; PHILIP N; PLAUCHU H; SARDA P; VERLOES A; NIHOULFEKETE C; WILLIAMSON R; PONDER BAJ; MUNNICH A; LYONNET S
      LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS

      Journal of Medical Genetics
    14. DORVAL I; ODENT S; JEZEQUEL P; JOURNEL H; CHAUVEL B; DABADIE A; ROUSSEY M; LEGALL JY; LEMAREC B; DAVID V; BLAYAU M
      ANALYSIS OF 160-CF CHROMOSOMES - DETECTION OF A NOVEL MUTATION IN EXON-20

      Human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/21 alle ore 14:57:21