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La ricerca find articoli where soggetti phrase all words 'SIEMENS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 52 riferimenti
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    1. Glavina, D; Majstorovic, M; Lulic-Dukic, O; Juric, H
      Hypohidrotic ectodermal dysplasia: Dental features and carriers detection

      COLLEGIUM ANTROPOLOGICUM
    2. Whittock, NV; Ashton, GHS; Griffiths, WAD; Eady, RAJ; McGrath, JA
      New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

      BRITISH JOURNAL OF DERMATOLOGY
    3. Virtanen, M; Gedde-Dahl, T; Mork, NJ; Leigh, I; Bowden, PE; Vahlquist, A
      Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression

      ACTA DERMATO-VENEREOLOGICA
    4. Weber, F; Bauer, JW; Sepp, N; Hogler, W; Salmhofer, W; Hintner, H; Fritsch, P
      Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa

      ACTA DERMATO-VENEREOLOGICA
    5. Suga, Y; Arin, MJ; Scott, G; Goldsmith, LA; Magro, CM; Baden, LA; Baden, HP; Roop, DR
      Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

      EXPERIMENTAL DERMATOLOGY
    6. Candau, C; Saussine, C; Lang, H; Roy, C; Faure, F; Jacqmin, D
      Natural history of residual renal stone fragments after ESWL

      EUROPEAN UROLOGY
    7. Teichman, JMH; Portis, AJ; Cecconi, PP; Bub, WL; Endicott, RC; Denes, B; Pearle, MS; Clayman, RV
      In vitro comparison of shock wave lithotripsy machines

      JOURNAL OF UROLOGY
    8. Cambiaghi, S; Restano, L; Paakkonen, K; Caputo, R; Kere, J
      Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia

      ARCHIVES OF DERMATOLOGY
    9. Horev, L; Glaser, B; Ben-Amitai, D; Vardy, D; Zlotogorski, A
      Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6

      HUMAN HEREDITY
    10. Oetting, WS; Fryer, JP; Wyman, Z; Shtorch, A; Cordoba, M; Lazarov, A; Reish, O
      Molecular analysis of an extended Palestinian family from Israel with monilethrix

      GENETICS IN MEDICINE
    11. Gardella, R; Zoppi, N; Ferraboli, S; Marini, D; Tadini, G; Barlati, S; Colombi, M
      Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

      HUMAN MUTATION
    12. Shimizu, H; Suzumori, K
      Prenatal diagnosis as a test for genodermatoses: its past, present and future

      JOURNAL OF DERMATOLOGICAL SCIENCE
    13. Robert, M; Lanfrey, P; Rey, G; Guiter, J; Navratil, H
      Analgesia in piezoelectric SWL: Comparative study of kidney and upper ureter treatments

      JOURNAL OF ENDOUROLOGY
    14. Tailly, GG
      Consecutive experience with four Dornier lithotripters: HM4, MPL 9000, Compact, and U/50

      JOURNAL OF ENDOUROLOGY
    15. Hendrikx, AJM; Strijbos, WEM; De Knijff, DW; Kums, JJM; Doesburg, WH; Lemmens, WAJG
      Treatment for extended-mid and distal ureteral stones: SWL or ureteroscopy? Results of a multicenter study

      JOURNAL OF ENDOUROLOGY
    16. Sontag, MR; Steinberg, TH
      Performance and beam characteristics of the Siemens Primus linear accelerator

      MEDICAL PHYSICS
    17. Sternberg, R; Tamasy, C
      Munich as Germany's no. 1 high technology region: Empirical evidence, theoretical explanations and the role of small firm/large firm relationships

      REGIONAL STUDIES
    18. Korge, BP; Hamm, H; Jury, CS; Traupe, H; Irvine, AD; Healy, E; Birch-Machin, M; Rees, JL; Messenger, AG; Holmes, SC; Parry, DAD; Munro, CS
      Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    19. Muller, FB; Anton-Lamprecht, I; Kuster, W; Korge, BP
      A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    20. Arin, MJ; Longley, MA; Epstein, EH; Scott, G; Goldsmith, LA; Rothnagel, JA; Roop, DR
      A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    21. Smith, LT; Underwood, RA; McLean, WHI
      Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development

      BRITISH JOURNAL OF DERMATOLOGY
    22. Basarab, T; Smith, FJD; Jolliffe, VML; McLean, WHI; Neill, S; Rustin, MHA; Eady, RAJ
      Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

      BRITISH JOURNAL OF DERMATOLOGY
    23. Sybert, VP; Francis, JS; Corden, LD; Smith, LT; Weaver, M; Stephens, K; McLean, WHI
      Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. TAILLY GG
      THE DORNIER LITHOTRIPTER U 15/50 - A MULTIFUNCTIONAL AND MULTIDISCIPLINARY WORKSTATION/

      Journal of endourology
    25. Okano, A
      Digital image in cardiology now and for the future

      INTERNATIONAL JOURNAL OF CARDIAC IMAGING
    26. FINKBEINER AE; FOWLER JE; KAHNOSKI RJ; KLEIN FA
      CLINICAL-EXPERIENCE WITH THE STORZ-MODULITH SL-20 LITHOTRIPTOR

      Southern medical journal
    27. KORGE BP; HEALY E; MUNRO CS; PUNTER C; BIRCHMACHIN M; HOLMES SC; DARLINGTON S; HAMM H; MESSENGER AG; REES JL; TRAUPE H
      A MUTATIONAL HOTSPOT IN THE 2B DOMAIN OF HUMAN HAIR BASIC KERATIN-6 (HHB6) IN MONILETHRIX PATIENTS

      Journal of investigative dermatology
    28. MERCIER M; WINTER H; LABREZE C; CHAPALAIN V; SURLEVEBAZEILLE JE; TAIEB A; ROGERS MA; SCHWEITZER J
      A VARIABLE MONILETHRIX PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION, GLU402LYS, IN THE HELIX TERMINATION MOTIF OF THE TYPE-II HAIR KERATIN HHB1

      Journal of investigative dermatology
    29. Suga, Y; Duncan, KO; Heald, PW; Roop, DR
      A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    30. Kremer, H; Lavrijsen, APM; McLean, WHI; Lane, EB; Melchers, D; Ruiter, DJ; Mariman, ECM; Steijlen, PM
      An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    31. SHIMIZU H; HORIGUCHI Y; SUZUMORI K; WATANABE I; OWARIBE K; NISHIKAWA T
      SUCCESSFUL PRENATAL EXCLUSION OF AN UNSPECIFIED SUBTYPE OF SEVERE EPIDERMOLYSIS-BULLOSA

      International journal of dermatology
    32. YANG JM; LEE ES; KANG HJ; CHOI GS; YONEDA K; JUNG SY; PARK KB; STEINERT PM; LEE ES
      A GLUTAMATE TO LYSINE MUTATION AT THE END OF 2B ROD DOMAIN OF KERATIN2E GENE IN ICHTHYOSIS BULLOSA OF SIEMENS

      Acta dermato-venereologica
    33. WINTER H; ROGERS MA; LANGBEIN L; STEVENS HP; LEIGH IM; LABREZE C; ROUL S; TAIEB A; KRIEG T; SCHWEIZER J
      MUTATIONS IN THE HAIR CORTEX KERATIN HHB6 CAUSE THE INHERITED HAIR DISEASE MONILETHRIX

      Nature genetics
    34. HOHL D
      STEATOCYSTOMA MULTIPLEX AND OLIGOSYMPTOMATIC PACHYONYCHIA-CONGENITA OF THE JACKSON-SERTOLI TYPE

      Dermatology
    35. WINTER H; ROGERS MA; GEBHARDT M; WOLLINA U; BOXALL L; CHITAYAT D; BABULHIRJI R; STEVENS HP; ZLOTOGORSKI A; SCHWEIZER J
      A NEW MUTATION IN THE TYPE-II HAIR CORTEX KERATIN HHB1 INVOLVED IN THE INHERITED HAIR DISORDER MONILETHRIX

      Human genetics
    36. ROBERT M; MAROTTA J; RAKOTOMALALA E; MUIR G; GRASSET D
      PIEZOELECTRIC EXTRACORPOREAL SHOCK-WAVE LITHOTRIPSY OF LOWER POLE NEPHROLITHIASIS

      European urology
    37. JOH GY; TRAUPE H; METZE D; NASHAN D; HUBER M; HOHL D; LONGLEY MA; ROTHNAGEL JA; ROOP DR
      A NOVEL DINUCLEOTIDE MUTATION IN KERATIN-10 IN THE ANNULAR EPIDERMOLYTIC ICHTHYOSIS VARIANT OF BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA

      Journal of investigative dermatology
    38. MUNOZ F; LESTRINGANT G; SYBERT V; FRYDMAN M; ALSWAINI A; FROSSARD PM; JORGENSON R; ZONANA J
      DEFINITIVE EVIDENCE FOR AN AUTOSOMAL RECESSIVE FORM OF HYPOHIDROTIC ECTODERMAL DYSPLASIA CLINICALLY INDISTINGUISHABLE FROM THE MORE COMMON X-LINKED DISORDER

      American journal of human genetics
    39. LENZNER U; HAPPLE R; KREMER H; MENSING H; REINEL D; STEIJLEN PM; ULRICH R
      ICHTHYOSIS BULLOSA OF SIEMENS - A DISTINCT TYPE OF EPIDERMOLYTIC HYPERKERATOSIS

      EJD. European journal of dermatology
    40. SHIMIZU H; SUZUMORI K; NISHIKAWA T
      HETEROGENEOUS REACTIVITY WITH LH7.2 AND THE FIRST PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AMONG JAPANESE PATIENTS

      Dermatology
    41. KORGE BP; KRIEG T
      THE MOLECULAR-BASIS FOR INHERITED BULLOUS DISEASES

      Journal of molecular medicine
    42. ELABBADY A; MATHES G; MOREHOUSE DD; HONEY J; PAHIRA J; ZEMAN R; PAQUIN JM; FAUCHER R; ELHILALI MM
      SAFETY AND EFFECTIVENESS OF LITHOSTAR SHOCK-TUBE-C IN THE TREATMENT OF URINARY CALCULI

      Journal of endourology
    43. LONGO JA; NETTO NR
      EXTRACORPOREAL SHOCK-WAVE LITHOTRIPSY IN CHILDREN

      Urology
    44. GRASSO M; LOISIDES P; BEAGHLER M; BAGLEY D
      THE CASE FOR PRIMARY ENDOSCOPIC MANAGEMENT OF UPPER URINARY-TRACT CALCULI .1. A CRITICAL-REVIEW OF 121 EXTRACORPOREAL SHOCK-WAVE LITHOTRIPSY FAILURES

      Urology
    45. GRASSO M; BEAGHLER M; LOISIDES P
      THE CASE FOR PRIMARY ENDOSCOPIC MANAGEMENT OF UPPER URINARY-TRACT CALCULI .2. COST AND OUTCOME ASSESSMENT OF 112 PRIMARY URETERAL CALCULI

      Urology
    46. LEHTORANTA K
      COST AND EFFECTIVENESS OF DIFFERENT TREATMENT ALTERNATIVES IN URINARYSTONE PRACTICE

      Scandinavian journal of urology and nephrology
    47. HOVNANIAN A; HILAL L; BLANCHETBARDON C; BODEMER C; DEPROST Y; STARK CA; CHRISTIANO AM; DOMMERGUES M; TERWILLIGER JD; IZQUIERDO L; CONTEVILLE P; DUMEZ Y; UITTO J; GOOSSENS M
      DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE

      Journal of investigative dermatology
    48. HOVNANIAN A; DEPROST Y
      INHERITED EPIDERMOLYSIS-BULLOSA - TOWARDS CLASSIFICATION AND GENETICSCOUNSELING BASED UPON IDENTIFICATION OF MOLECULAR DEFECTS

      Archives de pediatrie
    49. BURTON JL
      KERATIN GENES AND EPIDERMOLYTIC HYPERKERATOSIS

      Lancet
    50. SUGIURA M; FUWA A
      KINETIC-STUDY OF SILICON PRECIPITATION FR OM SIHCL3

      Nippon Kinzoku Gakkaishi
    51. BARTSTRA HLJ; HULSMANS RFHJ; STEIJLEN PM; RUIGE M; DEDIESMULDERS CEM; CASSIMAN JJ
      MOSAIC EXPRESSION OF HYPOHIDROTIC ECTODERMAL DYSPLASIA IN AN ISOLATEDAFFECTED FEMALE CHILD

      Archives of dermatology
    52. MOBLEY TB; MYERS DA; GRINE WB; JENKINS JM; JORDAN WR
      LOW-ENERGY LITHOTRIPSY WITH THE LITHOSTAR - TREATMENT RESULTS WITH 19,962 RENAL AND URETERAL CALCULI

      The Journal of urology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/21 alle ore 13:41:05