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    1. Ranganathan, V; Heine, WF; Ciccone, DN; Rudolph, KL; Wu, XH; Chang, S; Hai, H; Ahearn, IM; Livingston, DM; Resnick, I; Rosen, F; Seemanova, E; Jarolim, P; DePinho, RA; Weaver, DT
      Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit

      CURRENT BIOLOGY
    2. Avela, K; Lipsanen-Nyman, M; Idanheimo, N; Seemanova, E; Rosengren, S; Makela, TP; Perheentupa, J; de la Chapelle, A; Lehesjoki, AE
      Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

      NATURE GENETICS
    3. 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
    4. 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
    5. Muller, CR; Fregin, A; Srsen, S; Srsnova, K; Halliger-Keller, B; Felbor, U; Seemanova, E; Kress, W
      Allelic heterogeneity of alkaptonuria in Central Europe

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Bartsch, O; Kress, W; Wagner, A; Seemanova, E
      The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case

      CYTOGENETICS AND CELL GENETICS
    7. Seemanova, E; Bartsch, O
      Mulibrey nanism and Wilms tumor

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Kohlhase, J; Taschner, PEM; Burfeind, P; Pasche, B; Newman, B; Blanck, C; Breuning, MH; ten Kate, LP; Maaswinkel-Mooy, P; Mitulla, B; Seidel, J; Kirkpatrick, SJ; Pauli, RM; Wargowski, DS; Devriendt, K; Proesmans, W; Gabrielli, O; Coppa, GV; Wesby-van Swaay, E; Trembath, RC; Schinzel, AA; Reardon, W; Seemanova, E; Engel, W
      Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. 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
    10. JAROLIM P; SHAYAKUL C; PRABAKARAN D; JIANG LW; STUARTTILLEY A; RUBIN HL; SIMOVA S; ZAVADIL J; HERRIN JT; BROUILLETTE J; SOMERS MJG; SEEMANOVA E; BRUGNARA C; GUAYWOODFORD LM; ALPER SL
      AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS IS ASSOCIATED IN 3 FAMILIES WITH HETEROZYGOSITY FOR THE R589H MUTATION IN THE AE1 (BAND-3)CL- HCO3- EXCHANGER/

      The Journal of biological chemistry
    11. SEDLACEK Z; KODET R; KRIZ V; SEEMANOVA E; VODVARKA P; WILGENBUS P; MARES J; POUSTKA A; GOETZ P
      2 LI-FRAUMENI-SYNDROME FAMILIES WITH NOVEL GERMLINE P53 MUTATIONS - LOSS OF THE WILD-TYPE P53 ALLELE IN ONLY 50-PERCENT OF TUMORS

      British Journal of Cancer
    12. ALPER SL; GUAYWOODFORD LM; PRABAKARAN D; BROUILLETTE J; SOMERS MJG; HERRIN JT; SEEMANOVA E; BRUGNARA C; JAROLIM P
      A HETEROZYGOUS MISSENSE MUTATION IN THE AE1 CL- HCO3- EXCHANGER GENE COSEGREGATES WITH AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IN 2 UNRELATED FAMILIES/

      Journal of the American Society of Nephrology
    13. JAROLIM P; SHAYAKUL C; PRABAKARAN D; JIANG L; STUARTTILLEY A; HERRIN JT; SOMERS MJG; SEEMANOVA E; SIMOVA S; BROUILLETTE J; GUAYWOODFORD LM; BRUGNARA C; ALPER SL
      SUBSTITUTION 589-ARG-]HIS IN ERYTHROID BAND-3 (AE1) CAUSES OR CONTRIBUTES TO AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA)

      Blood
    14. KNEBEL B; KELLNER S; KOTZKA J; SIEMEISTER G; DREYER M; STREICHER R; SCHILLER M; RUDIGER HW; SEEMANOVA E; KRONE W; MULLERWIELAND D
      DEFECTS OF INSULIN AND IGF-1 ACTION AT RECEPTOR AND POSTRECEPTOR LEVEL IN A PATIENT WITH TYPE-A SYNDROME OF INSULIN-RESISTANCE

      Biochemical and biophysical research communications
    15. 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
    16. SEEMANOVA E; LESNY I
      X-LINKED MICROCEPHALY, MICROPHTHALMIA, MICROCORNEA, CONGENITAL CATARACT, HYPOGENITALISM, MENTAL DEFICIENCY, GROWTH-RETARDATION, SPASTICITY - POSSIBLE NEW SYNDROME

      American journal of medical genetics
    17. SEEMANOVA E
      FRAGILE-X SYNDROME IN INCESTUOUS FAMILIES

      American journal of medical genetics
    18. AHLBOM BE; GOETZ P; KORENBERG JR; PETTERSSON U; SEEMANOVA E; WADELIUS C; ZECH L; ANNEREN G
      MOLECULAR ANALYSIS OF CHROMOSOME-21 IN A PATIENT WITH A PHENOTYPE OF DOWN-SYNDROME AND APPARENTLY NORMAL KARYOTYPE

      American journal of medical genetics
    19. AMOS C; STEIN J; MULLIKEN JB; STAL S; MALCOLM S; WINTER R; BLANTON SH; SEEMANOVA E; GASSER DL; HECHT JT
      NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - ERRATUM

      American journal of human genetics
    20. STEIN J; MULLIKEN JB; STAL S; GASSER DL; MALCOLM S; WINTER R; BLANTON SH; AMOS C; SEEMANOVA E; HECHT JT
      BCL3 IS LINKED TO NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE

      American journal of human genetics
    21. 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
    22. STEIN J; MULLIKEN JB; STAL S; GASSER DL; MALCOLM S; WINTER R; BLANTON SH; AMOS C; SEEMANOVA E; HECHT JT
      NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - EVIDENCE OF LINKAGE TO BCL3 IN 17 MULTIGENERATIONAL FAMILIES

      American journal of human genetics
    23. 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
    24. KNEBEL B; SIEMEISTER G; KELTNER S; SCHILLER M; STREICHER R; KRONE W; MAASSEN JA; DREYER M; SEEMANOVA E; MULLERWIELAND D
      SELECTIVE POSTRECEPTOR DEFECT OF INSULIN AND IGF-I ON C-FOS-INDUCTIONIN A PATIENT WITH CONGENITAL LIPOATROPHY

      Diabetologia
    25. MULLERWIELAND D; VANDERVORM ER; STREICHER R; KRONE W; SEEMANOVA E; DREYER M; RUDIGER HW; ROSIPAL SR; MAASSEN JA
      AN IN-FRAME INSERTION IN EXON-3 AND A NONSENSE MUTATION IN EXON-2 OF THE INSULIN-RECEPTOR GENE ASSOCIATED WITH SEVERE INSULIN-RESISTANCE INA PATIENT WITH RABSON-MENDENHALL SYNDROME

      Diabetologia


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 21:21:07