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La ricerca find articoli where authors phrase all words ' Sperling, K' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 52 riferimenti
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    1. Sperling, K
      From proteomics to genomics

      ELECTROPHORESIS
    2. Vanita; Sarhadi, V; Reis, A; Jung, M; Singh, D; Sperling, K; Singh, JR; Burger, J
      A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

      JOURNAL OF MEDICAL GENETICS
    3. Varon, R; Reis, A; Henze, G; Von Einsiedel, HG; Sperling, K; Seeger, K
      Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acutelymphoblastic leukemia (ALL)

      CANCER RESEARCH
    4. Vanita; Singh, JR; Sarhadi, VK; Singh, D; Reis, A; Rueschendorf, F; Becker-Follmann, J; Jung, M; Sperling, K
      A novel form of "central pouchlike" cataract, with sutural opacities, mapsto chromosome 15q21-22

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Demuth, I; Wlodarski, M; Tipping, AJ; Morgan, NV; de Winter, JP; Thiel, M; Grasl, S; Schindler, D; D'Andrea, AD; Altay, C; Kayserili, H; Zatterale, A; Kunze, J; Ebell, W; Mathew, CG; Joenje, H; Sperling, K; Digweed, M
      Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Varon, R; Seemanova, E; Chrzanowska, K; Hnateyko, O; Piekutowska-Abramczuk, D; Krajewska-Walasek, M; Sykut-Cegielska, J; Sperling, K; Reis, A
      Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Wilda, M; Demuth, I; Concannon, P; Sperling, K; Hameister, H
      Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development

      HUMAN MOLECULAR GENETICS
    8. Singh, AP; Henschel, S; Sperling, K; Kalscheuer, V; Neitzel, H
      Differences in the meiotic pairing behavior of gonosomal heterochromatin between female and male Microtus agrestis: implications for the mechanism ofheterochromatin amplification on the X and Y

      CYTOGENETICS AND CELL GENETICS
    9. Yeo, TC; Xia, D; Hassouneh, S; Yang, XO; Sabath, DE; Sperling, K; Gatti, RA; Concannon, P; Willerford, DM
      V(D)J rearrangement in Nijmegen breakage syndrome

      MOLECULAR IMMUNOLOGY
    10. Hiel, JA; Weemaes, CM; van den Heuvel, LP; van Engelen, BG; Gabreels, FJ; Smeets, DF; van der Burgt, I; Chrzanovska, KH; Bernatowska, E; Krajewska-Walasek, M; Bialecka, M; Abramczuk, D; Gregorek, H; Michalkiewicz, I; Perek, D; Midro, AT; Seemanova, E; Belohradsky, BH; Solder, B; Barbi, G; Wegner, RD; Sperling, K; Dixon, J; Maraschio, P; Marseglia, GL; Green, A; Taylor, AM; Der Kaloustian, VM; Komatsu, K; Matsuura, S; Conley, ME; Concannon, P; Gatti, RA
      Nijmegen breakage syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    11. Sperling, K
      The human genome project: Medicine and evolution

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    12. Sandoval, N; Platzer, M; Rosenthal, A; Dork, T; Bendix, R; Skawran, B; Stuhrmann, M; Wegner, RD; Sperling, K; Banin, S; Shiloh, Y; Baumer, A; Bernthaler, U; Sennefelder, H; Brohm, M; Weber, BHF; Schindler, D
      Characterization of ATM gene mutations in 66 ataxia telangiectasia families

      HUMAN MOLECULAR GENETICS
    13. Digweed, M; Reis, A; Sperling, K
      Nijmegen Breakage Syndrome: consequences of defective DNA double strand break repair

      BIOESSAYS
    14. Sperling-Ischinsky, K; Veeman, WS
      Xe-129-NMR of carbon black filled elastomers

      JOURNAL OF THE BRAZILIAN CHEMICAL SOCIETY
    15. SAAR K; SCHINDLER D; WEGNER RD; REIS A; WIENKER TF; HOEHN H; JOENJE H; SPERLING K; DIGWEED M
      LOCALIZATION OF A FANCONI-ANEMIA GENE TO CHROMOSOME 9P

      European journal of human genetics
    16. TOENNIES H; MULLER D; HUMMEL S; HERRMANN H; SPERLING K; NEITZEL H
      CHROMOSOME ANALYSIS OF A 262 YEARS PRESERVED FETUS WITH MULTIPLE CONGENITAL-MALFORMATIONS - FIRST APPLICATION OF COMPARATIVE GENOMIC HYBRIDIZATION TO ANCIENT DNA

      European journal of human genetics
    17. BUERGER J; HENNIES HC; SPERLING K; REIS A
      UBE3A GENE-EXPRESSION IN ANGELMAN SYNDROME PATIENTS WITH IMPRINTING DEFECTS

      European journal of human genetics
    18. SCHINDLER D; BAUMER A; BERNTHALER U; SENNEFELDER H; BROHM M; WEBER BHF; SANDOVAL N; PLATZER M; ROSENTHAL A; SHILOH Y; WEGNER RD; SPERLING K; DOERK T; BENDIX R; SKAWRAN B; STUHRMANNSPANGENBERG M
      MUTATION ANALYSIS IN THE ATM GENE OF 67 ATAXIA-TELANGIECTASIA (A-T) PATIENTS IN GERMANY

      European journal of human genetics
    19. NEITZEL H; KALSCHEUER V; HENSCHEL S; DIGWEED M; SPERLING K
      BETA-HETEROCHROMATIN IN MAMMALS - EVIDENCE FROM STUDIES IN MICROTUS-AGRESTIS BASED ON THE EXTENSIVE ACCUMULATION OF L1 AND NON-L1 RETROPOSONS IN THE HETEROCHROMATIN

      Cytogenetics and cell genetics
    20. VARON R; VISSINGA C; PLATZER M; CEROSALETTI KM; CHRZANOWSKA KH; SAAR K; BECKMANN G; SEEMANOVA E; COOPER PR; NOWAK NJ; STUMM M; WEEMAES CMR; GATTI RA; WILSON RK; DIGWEED M; ROSENTHAL A; SPERLING K; CONCANNON P; REIS A
      NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME

      Cell
    21. CLARKE DJ; GIMENEZABIAN JF; TONNIES H; NEITZEL E; SPERLING K; DOWNES CS; JOHNSON RT
      CREATION OF MONOSOMIC DERIVATIVES OF HUMAN CULTURED-CELL LINES

      Proceedings of the National Academy of Sciences of the United Statesof America
    22. THIES C; SPERLING K; REIS A; HANDROCK M
      SMALL MALFORMATIONS OF THE MIDDLE-EAR - A HEREDITARY DEFECT

      HNO. Hals-, Nasen-, Ohrenarzte
    23. JUNGBLUT PR; OTTO A; FAVOR J; LOWE M; MULLER EC; KASTNER M; SPERLING K; KLOSE J
      IDENTIFICATION OF MOUSE CRYSTALLINS IN 2D PROTEIN-PATTERNS BY SEQUENCING AND MASS-SPECTROMETRY - APPLICATION TO CATARACT MUTANTS

      FEBS letters
    24. SPERLING K; VEEMAN WS; LITVINOV VM
      (129)XENON NMR-STUDY OF CARBON-BLACK-FILLED-EPDM

      Kautschuk und Gummi, Kunststoffe
    25. MACEK M; MACEK M; KREBSOVA A; NASH E; HAMOSH A; REIS A; VARONMATEEVA R; SCHMIDTKE J; MAESTRI NE; SPERLING K; KRAWCZAK M; CUTTING GR
      POSSIBLE ASSOCIATION OF THE ALLELE STATUS OF THE CS.7 HHAI POLYMORPHISM-5' OF THE CFTR GENE WITH POSTNATAL FEMALE SURVIVAL/

      Human genetics
    26. NANDA I; PETERS MA; TAPAROWSKY EJ; SPERLING K; SCHMID M
      ASSIGNMENT OF THE CHICKEN MAXGENE TO CHROMOSOME HE BY FLUORESCENCE IN-SITU HYBRIDIZATION

      Cytogenetics and cell genetics
    27. WIM JM; VUILLAUME M; CHRZANOWSKA K; SMEETS D; SPERLING K; HALL J
      NIJMEGEN BREAKAGE SYNDROME CELLS FAIL TO INDUCE THE P53-MEDIATED DNA-DAMAGE RESPONSE FOLLOWING EXPOSURE TO IONIZING-RADIATION

      Molecular and cellular biology
    28. MAGUSIN PCMM; BOLZ A; SPERLING K; VEEMAN WS
      THE USE OF XE-129 NMR-SPECTROSCOPY FOR STUDYING SOILS - A PILOT-STUDY

      Geoderma
    29. WIEBE V; HENNIES HC; ANTONLAMPRECHT I; HAMMERSEN G; ROTT HD; SPERLING K; REIS A
      PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS (ARLI) AND IDENTIFICATION OF NEW MUTATIONS IN TGM1

      American journal of human genetics
    30. BURGER J; HENNIES HC; WESSEL T; BURKHARDGOTTGES E; SPERLING K; REIS A
      AN INTEGRATED TRANSCRIPT, STS, AND RESTRICTION-SIZE BASED BAC PAC CONTIG MAP FROM THE ANGELMAN-SYNDROME REGION ON HUMAN-CHROMOSOME 15Q11-Q13/

      American journal of human genetics
    31. BURGER J; BUITING K; DITTRICH B; GROSS S; LICH C; SPERLING K; HORSTHEMKE B; REIS A
      DIFFERENT MECHANISMS AND RECURRENCE RISKS OF IMPRINTING DEFECTS IN ANGELMAN-SYNDROME

      American journal of human genetics
    32. STUMM M; SPERLING K; WEGNER RD
      NONCOMPLEMENTATION OF RADIATION-INDUCED CHROMOSOME-ABERRATIONS IN ATAXIA-TELANGIECTASIA ATAXIA-TELANGIECTASIA-VARIANT HETERODIKARYONS/

      American journal of human genetics
    33. SAAR K; CHRZANOWSKA KH; STUMM M; JUNG M; NURNBERG G; WIENKER TF; SEEMANOVA E; WEGNER RD; REIS A; SPERLING K
      THE GENE FOR THE ATAXIA-TELANGIECTASIA VARIANT, NIJMEGEN BREAKAGE SYNDROME, MAPS TO A 1-CM INTERVAL ON CHROMOSOME 8Q21

      American journal of human genetics
    34. BENDER O; JONES NJ; SPERLING K; DIGWEED M
      IDENTIFICATION OF A HELA MESSENGER-RNA FRACTION WHICH CORRECTS THE MITOMYCIN-C SENSITIVITY OF IRS1 CELLS

      Mutation research. DNA repair
    35. KALSCHEUER V; SINGH AP; NANDA I; SPERLING K; NEITZEL H
      EVOLUTION OF THE GONOSOMAL HETEROCHROMATIN OF MICROTUS-AGRESTIS - RAPID AMPLIFICATION OF A LARGE, MULTIMERIC, REPEAT UNIT CONTAINING A 3.0-KB (GATA)(11)-POSITIVE, MIDDLE REPETITIVE ELEMENT

      Cytogenetics and cell genetics
    36. DIGWEED M; SPERLING K
      MOLECULAR ANALYSIS OF FANCONI-ANEMIA

      BioEssays
    37. WEGNER RD; SCHROCK E; OBLADEN M; BECKER R; STUMM M; SPERLING K
      PARTIAL TRISOMY MONOSOMY 6Q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE/

      Prenatal diagnosis
    38. BURGER J; KUNZE J; SPERLING K; REIS A
      PHENOTYPIC DIFFERENCES IN ANGELMAN SYNDROME PATIENTS - IMPRINTING MUTATIONS SHOW LESS FREQUENTLY MICROCEPHALY AND HYPOPIGMENTATION THAN DELETIONS

      American journal of medical genetics
    39. THIES C; HANDROCK M; SPERLING K; REIS A
      POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE OF PROGRESSIVE HEARING-LOSS WITH STAPES FIXATION

      Journal of Medical Genetics
    40. VARON R; MAGDORF K; STAAB D; WAHN HU; KRAWCZAK M; SPERLING K; REIS A
      RECURRENT NASAL POLYPS AS A MONOSYMPTOMATIC FORM OF CYSTIC-FIBROSIS ASSOCIATED WITH A NOVEL IN-FRAME DELETION (591DEL18) IN THE CFTR GENE

      Human molecular genetics
    41. DIGWEED M; GUNTHERT U; SCHNEIDER R; SEYSCHAB H; FRIEDL R; SPERLING K
      IRREVERSIBLE REPRESSION OF DNA-SYNTHESIS IN FANCONI-ANEMIA CELLS IS ALLEVIATED BY THE PRODUCT OF A NOVEL CYCLIN-RELATED GENE

      Molecular and cellular biology
    42. STUMM M; GATTI RA; REIS A; UDAR N; CHRZANOWSKA K; SEEMANOVA E; SPERLING K; WEGNER RD
      THE ATAXIA-TELANGIECTASIA-VARIANT GENE-1 AND GENE-2 ARE DISTINCT FROMTHE ATAXIA-TELANGIECTASIA GENE ON CHROMOSOME-11Q23.1

      American journal of human genetics
    43. CASCORBI I; DRAKOULIS N; BROCKMOLLER J; MAURER A; SPERLING K; ROOTS I
      ARYLAMINE N-ACETYLTRANSFERASE (NAT2) MUTATIONS AND THEIR ALLELIC LINKAGE IN UNRELATED CAUCASIAN INDIVIDUALS - CORRELATION WITH PHENOTYPIC ACTIVITY

      American journal of human genetics
    44. REIS A; HENNIES HC; LANGBEIN L; DIGWEED M; MISCHKE D; DRECHSLER M; SCHROCK E; ROYERPOKORA B; FRANKE WW; SPERLING K; KUSTER W
      KERATIN-9 GENE-MUTATIONS IN EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (EPPK)

      Nature genetics
    45. TASSABEHJI M; NEWTON VE; LEVERTON K; TURNBULL K; SEEMANOVA E; KUNZE J; SPERLING K; STRACHAN T; READ AP
      PAX3 GENE STRUCTURE AND MUTATIONS - CLOSE ANALOGIES BETWEEN WAARDENBURG SYNDROME AND THE SPLOTCH MOUSE

      Human molecular genetics
    46. SPERLING K; PELZ J; WEGNER RD; DORRIES A; GRUTERS A; MIKKELSEN M
      FALLOUT FROM CHERNOBYL - AUTHORS STAND BY STUDY THAT CHERNOBYL INCREASED TRISOMY-21 IN BERLIN

      BMJ. British medical journal
    47. SPERLING K; PELZ J; WEGNER RD; DORRIES A; GRUTERS A; MIKKELSEN M
      SIGNIFICANT INCREASE IN TRISOMY-21 IN BERLIN 9 MONTHS AFTER THE CHERNOBYL REACTOR ACCIDENT - TEMPORAL CORRELATION OR CAUSAL RELATION

      BMJ. British medical journal
    48. BROENG L; HANSEN LB; SPERLING K; KANSTRUP IL
      POSTOPERATIVE TC-SCINTIMETRY IN FEMORAL-NECK FRACTURE - A PROSPECTIVE-STUDY OF 46 CASES

      Acta orthopaedica Scandinavica
    49. BARTHOLDY J; SPERLING K; IBSEN M; ELIASEN K; MOGENSEN T
      PREOPERATIVE INFILTRATION OF THE SURGICAL AREA ENHANCES POSTOPERATIVEANALGESIA OF A COMBINED LOW-DOSE EPIDURAL BUPIVACAINE AND MORPHINE REGIMEN AFTER UPPER ABDOMINAL-SURGERY

      Acta anaesthesiologica Scandinavica
    50. HENNIES HC; KUSTER W; LANGBEIN L; DIGWEED M; MISCHKE D; FRANKE WW; SPERLING K; REIS A
      KERATIN-9 GENE-MUTATIONS IN EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (EPPK)

      American journal of human genetics
    51. REIS A; GREGER V; LALANDE M; SPERLING K
      IMPRINTING MUTATIONS SUGGESTED BY ABNORMAL DNA METHYLATION PATTERNS IN ANGELMAN SYNDROME

      American journal of human genetics
    52. MORRIS DJ; SCHMITT J; CLAUSSEN U; GOUDIE D; SPERLING K; REIS A
      REFINED MAPPING OF THE GENE FOR NEVOID BASAL-CELL CARCINOMA SYNDROME (NBCCS) - CONSTRUCTION OF A MICRODISSECTION LIBRARY FROM CHROMOSOME-9Q22-Q31

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 19:52:41