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La ricerca find articoli where authors phrase all words ' TILLER GE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 36 riferimenti
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    1. Kakkis, ED; Muenzer, J; Tiller, GE; Waber, L; Belmont, J; Passage, M; Izykowski, B; Phillips, J; Doroshow, R; Walot, I; Hoft, R; Yu, KT; Okazaki, S; Lewis, D; Lachman, R; Thompson, JN
      Enzyme-replacement therapy in mucopolysaccharidosis I.

      NEW ENGLAND JOURNAL OF MEDICINE
    2. Gedeon, AK; Tiller, GE; Le Merrer, M; Heuertz, S; Tranebjaerg, L; Chitayat, D; Robertson, S; Glass, IA; Savarirayan, R; Cole, WG; Rimoin, DL; Kousseff, BG; Ohashi, H; Zabel, B; Munnich, A; Gecz, J; Mulley, JC
      The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

      AMERICAN JOURNAL OF HUMAN GENETICS
    3. Tiller, GE; Hannig, VL; Dozier, D; Carrel, L; Trevarthen, KC; Wilcox, WR; Mundlos, S; Haines, JL; Gedeon, AK; Gecz, J
      A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda

      AMERICAN JOURNAL OF HUMAN GENETICS
    4. Agirbasli, M; Hamid, R; Jennings, HS; Tiller, GE
      Situs inversus with hypertrophic cardiomyopathy in identical twins

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Gedeon, AK; Colley, A; Jamieson, R; Thompson, EM; Rogers, J; Sillence, D; Tiller, GE; Mulley, JC; Gecz, J
      Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

      NATURE GENETICS
    6. Chi, HB; Tiller, GE; Dasouki, MJ; Romano, PR; Wang, J; O'Keefe, RJ; Puzas, JE; Rosier, RN; Reynolds, PR
      Multiple inositol polyphosphate phosphatase: Evolution as a distinct groupwithin the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19

      GENOMICS
    7. Zhang, MC; He, L; Giro, M; Yong, SL; Tiller, GE; Davidson, JM
      Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    8. TILLER GE; WARMAN ML; GONG Y; KNOLL JHM; MAYNE R; BREWTON RG
      PHYSICAL AND LINKAGE MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3

      Cytogenetics and cell genetics
    9. TILLER GE; CASSIDY SB; WENSEL C; WENSTRUP RJ
      AORTIC ROOT DILATATION IN EHLERS-DANLOS-SYNDROME TYPE-I, TYPE-II AND TYPE-III - A REPORT OF 5 CASES

      Clinical genetics
    10. WARMAN ML; TILLER GE; GRIFFITH AJ
      MARSHALL-SYNDROME AND A DEFECT AT THE COL11A1 LOCUS - REPLY

      American journal of human genetics
    11. GRIFFITH AJ; SPRUNGER LK; SIRKOOSADSA DA; TILLER GE; MEISLER MH; WARMAN ML
      MARSHALL-SYNDROME ASSOCIATED WITH A SPLICING DEFECT AT THE COL11A1 LOCUS

      American journal of human genetics
    12. CROOP JM; TILLER GE; FLETCHER JA; LUX ML; RAAB E; GOLDENSON D; SON D; ARCINIEGAS S; WU RL
      ISOLATION AND CHARACTERIZATION OF A MAMMALIAN HOMOLOG OF THE DROSOPHILA WHITE GENE

      Gene
    13. GEYER D; RODRIGUEZ IR; HEINZMANN C; KOJIS TL; FLODMAN P; SPENCE MA; TILLER GE; MAZURUK K; HECKENLIVELY JR; CHADER GJ; BATEMAN JB
      MAP REFINEMENT OF REGION 17P13.3 AND EVALUATION OF PIGMENT-EPITHELIUMDERIVED FACTOR (PEDF), A CANDIDATE GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA

      Investigative ophthalmology & visual science
    14. PFOTENHAUER JP; TILLER GE; COHEN MP
      SHORT STATURE, MICROCEPHALY, CATARACTS, DEVELOPMENTAL DELAY, AND HYPERPHOSPHATASIA IN 2 BROTHERS - A NEW SYNDROME

      American journal of human genetics
    15. TILLER GE; WARMAN ML; GONG Y; KNOLL JHM; MAYNE R; BREWTON RG
      PHYSICAL AND LINKAGE MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3

      American journal of human genetics
    16. ZHANG MC; HE L; YONG SL; TILLER GE; DAVIDSON JM
      CUTIS LAXA ARISING FROM A FRAME-SHIFT MUTATION IN THE ELASTIN GENE (ELN)

      American journal of human genetics
    17. TILLER GE; DASOUKI MJ; REYNOLDS SD; OKEEFE RJ; PUZAS JE; ROSIER RN; REYNOLDS PR
      CHARACTERIZATION OF BAND-17, A GROWTH PLATE-SPECIFIC GENE IN CHICK, AND MAPPING OF ITS HUMAN HOMOLOG, GPTP1

      Matrix biology
    18. ARDEHALI H; TILLER GE; PRINTZ RL; MOCHIZUKI H; PROCHAZKA M; GRANNER DK
      A NOVEL (TA)(N) POLYMORPHISM IN THE HEXOKINASE-II GENE - APPLICATION TO NONINSULIN-DEPENDENT DIABETES-MELLITUS IN THE PIMA-INDIANS

      Human genetics
    19. HEINZMANN C; KOJIS TL; FLODMAN P; TILLER GE; HECKENLIVELY JR; RODRIGUEZ IR; CHADER GJ; SPENCE MA; BATEMAN JB
      FINE MAPPING OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP) LOCUS ON CHROMOSOME 17P13.3 AND ANALYSIS OF A CANDIDATE GENE

      Investigative ophthalmology & visual science
    20. TILLER GE; POLUMBO PA; WEIS MA; BOGAERT R; LACHMAN RS; COHN DH; RIMOIN DL; EYRE DR
      DOMINANT MUTATIONS IN THE TYPE-II COLLAGEN GENE, COL2A1, PRODUCE SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

      Nature genetics
    21. BREWTON RG; WOOD BM; REN ZX; GONG YQ; TILLER GE; WARMAN ML; LEE B; HORTON WA; OLSEN BR; BAKER JR; MAYNE R
      MOLECULAR-CLONING OF THE ALPHA-3 CHAIN OF HUMAN TYPE-IX COLLAGEN - LINKAGE OF THE GENE COL9A3 TO CHROMOSOME 20Q13.3

      Genomics
    22. HANNIG VL; TILLER GE
      ALOPECIA MENTAL-RETARDATION SYNDROME

      American journal of medical genetics
    23. TILLER GE; HEINZMANN C; KOJIS TL; GONZALEZ P; BATEMAN JB
      LINKAGE MAPPING OF ZETA-CRYSTALLIN ON HUMAN CHROMOSOME-1P - APPLICATION TO HEREDITARY CATARACTS

      Investigative ophthalmology & visual science
    24. VIKKULA M; MARIMAN ECM; LUI VCH; ZHIDKOVA NI; TILLER GE; GOLDRING MB; VANBEERSUM SEC; MALEFIJT MCD; VANDENHOOGEN FHJ; ROPERS HH; MAYNE R; CHEAH KSE; OLSEN BR; WARMAN ML; BRUNNER HG
      AUTOSOMAL-DOMINANT AND RECESSIVE OSTEOCHONDRODYSPLASIAS ASSOCIATED WITH THE COL11A2 LOCUS

      Cell
    25. CROOP JM; LUX M; FLETCHER JA; TILLER GE
      THE HUMAN HOMOLOG OF THE DROSOPHILA WHITE GENE MAPS NEAR A POTENTIAL LOCUS FOR BIPOLAR AFFECTIVE-DISORDER ON CHROMOSOME 21Q22.3

      American journal of human genetics
    26. HEINZMANN C; KOJIS TL; FLODMAN P; SPENCE MA; TILLER GE
      LINKAGE MAPPING OF ZETA-CRYSTALLIN ON HUMAN-CHROMOSOME 1P - APPLICATION TO HEREDITARY CATARACTS

      American journal of human genetics
    27. TILLER GE; WARMAN ML; GONG Y; KNOLL JHM; MANJUNATH NA; HANSMANN I; BREWTON RG
      MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3

      American journal of human genetics
    28. TILLER GE; WEIS MA; POLUMBO PA; GRUBER HE; RIMOIN DL; COHN DH; EYRE DR
      AN RNA-SPLICING MUTATION (G(-II COLLAGEN GENE (COL2AI) IN A FAMILY WITH SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA(51VS20)) IN THE TYPE)

      American journal of human genetics
    29. TILLER GE; POLUMBO PA; SUMMAR ML
      LINKAGE MAPPING OF THE GENE FOR TYPE-III COLLAGEN (COL3A1) TO HUMAN CHROMOSOME-2Q USING A VNTR POLYMORPHISM

      Genomics
    30. TILLER GE; POLUMBO PA; HEINZMANN C; KOJIS TL; BATEMAN JB
      THE GENE FOR THE BETA-SUBUNIT OF ROD CGMP PHOSPHODIESTERASE (PDEB) ISTIGHTLY LINKED TO THE HUNTINGTON LOCUS ON HUMAN CHROMOSOME-4P16

      Investigative ophthalmology & visual science
    31. WARMAN ML; TILLER GE; POLUMBO PA; SELDIN MF; ROCHELLE JM; KNOLL JHM; CHENG SD; OLSEN BR
      PHYSICAL AND LINKAGE MAPPING OF THE HUMAN AND MURINE GENES FOR THE ALPHA-1-CHAIN OF TYPE-IX COLLAGEN (COL9A1)

      Genomics
    32. COHN DH; SOLSKY MA; POLUMBO PA; RIMOIN DL; TILLER GE
      A GLY817-]VAL SUBSTITUTION IN ALPHA-1(II) COLLAGEN PRODUCES ACHONDROGENESIS TYPE-II

      American journal of human genetics
    33. TILLER GE; WEIS MA; LACHMAN RS; COHN DH; RIMOIN DL; EYRE DR
      A DOMINANT MUTATION IN THE TYPE-II COLLAGEN GENE (COL2A1) PRODUCES SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD), STRUDWICK TYPE

      American journal of human genetics
    34. POLUMBO PA; BATEMAN JB; HEINZMANN C; KOJIS TL; TILLER GE
      LINKAGE RELATIONSHIPS OF THE GENE FOR THE BETA-SUBUNIT OF ROD CGMP PHOSPHODIESTERASE (PDEB) TO MARKERS ON HUMAN CHROMOSOME-4P16

      American journal of human genetics
    35. WHITESIDES LD; POLUMBO PA; DIERWECHTER LM; SUMMAR ML; TILLER GE
      THE HOMOLOGOUS CLOTTING FACTOR-VII AND FACTOR-X ARE TIGHTLY LINKED ONHUMAN CHROMOSOME-13Q34

      American journal of human genetics
    36. TILLER GE; COHN DH; RABINOWITZ YS
      LINKAGE ANALYSIS IN FAMILIAL KERATOCONUS

      Investigative ophthalmology & visual science


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Documento generato il 22/10/20 alle ore 12:05:24