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La ricerca find articoli where authors phrase all words ' TIFFT CJ' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. Rosenberg, MJ; Killoran, C; Dziadzio, L; Chang, S; Stone, DL; Meck, J; Aughton, D; Bird, LM; Bodurtha, J; Cassidy, SB; Graham, JM; Grix, A; Guttmacher, AE; Hudgins, L; Kozma, C; Michaelis, RC; Pauli, R; Peters, KF; Rosenbaum, KN; Tifft, CJ; Wargowski, D; Williams, MS; Biesecker, LG
      Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

      HUMAN GENETICS
    2. Jeyakumar, M; Norflus, F; Tifft, CJ; Cortina-Borja, M; Butters, TD; Proia, RL; Perry, VH; Dwek, RA; Platt, FM
      Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation

      BLOOD
    3. Tifft, CJ; Proia, RL
      Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases

      GLYCOBIOLOGY
    4. Lacbawan, F; Tifft, CJ; Luban, NLC; Schmandt, SM; Guerrera, M; Weinstein, S; Pennybacker, M; Wong, LJC
      Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Wada, R; Tifft, CJ; Proia, RL
      Microglial activation precedes acute neurodegeneration in Sandhoff diseaseand is suppressed by bone marrow transplantation

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    6. Rosenberg, MJ; Vaske, D; Killoran, CE; Ning, Y; Wargowski, D; Hudgins, L; Tifft, CJ; Meck, J; Blancato, JK; Rosenbaum, K; Pauli, RM; Weber, J; Biesecker, LG
      Detection of chromosomal aberrations by a whole-genome microsatellite screen

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Oya, Y; Proia, RL; Norflus, F; Tifft, CJ; Langaman, C; Suzuki, K
      Distribution of enzyme-bearing cells in GM(2) gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation

      ACTA NEUROPATHOLOGICA
    8. Glass, RBJ; Tifft, CJ
      Radiologic changes in infancy in McKusick cartilage hair hypoplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Shotelersuk, V; Tifft, CJ; Vacha, S; Peters, KF; Biesecker, LG
      Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. NORFLUS F; TIFFT CJ; MCDONALD MP; GOLDSTEIN G; CRAWLEY JN; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
      BONE-MARROW TRANSPLANTATION PROLONGS LIFE-SPAN AND AMELIORATES NEUROLOGIC MANIFESTATIONS IN SANDHOFF DISEASE MICE

      The Journal of clinical investigation
    11. BECKER JA; VLACH J; RABEN N; NAGARAJU K; ADAMS EM; HERMANS MM; REUSER AJJ; BROOKS SS; TIFFT CJ; HIRSCHHORN R; HUIE ML; NICOLINO M; PLOTZ PH
      THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II

      American journal of human genetics
    12. BEATY TH; MAESTRI NE; HETMANSKI JB; WYSZYNSKI DF; VANDERKOLK CA; SIMPSON JC; MCINTOSH I; SMITH EA; ZEIGER JS; RAYMOND GV; PANNY SR; TIFFT CJ; LEWANDA AF; CRISTION CA; WULFSBERG EA
      TESTING FOR INTERACTION BETWEEN MATERNAL SMOKING AND TGFA GENOTYPE AMONG ORAL CLEFT CASES BORN IN MARYLAND 1992-1996

      The Cleft palate-craniofacial journal
    13. TIFFT CJ; PROIA RL
      THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE

      Annals of medicine
    14. SAMANGOSPROUSE C; VEZINA LG; BRASSEUX C; TILLMAN S; TIFFT CJ
      CRANIAL MAGNETIC-RESONANCE FINDINGS AND THE NEURODEVELOPMENTAL PERFORMANCE IN THE YOUNG-CHILD WITH NEUROFIBROMATOSIS TYPE-1

      American journal of human genetics
    15. GROPMAN AL; SAMANGOSPROUSE C; VEZINA LG; TIFFT CJ
      CONGENITAL BILATERAL PERISYLVIAN SYNDROME (CBPS) IN A CHILD WITH 47,XYY KARYOTYPE

      American journal of human genetics
    16. SANGO K; MCDONALD MP; CRAWLEY JN; MACK ML; TIFFT CJ; SKOP E; STARR CM; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
      MICE LACKING BOTH SUBUNITS OF LYSOSOMAL BETA-HEXOSAMINIDASE DISPLAY GANGLIOSIDOSIS AND MUCOPOLYSACCHARIDOSIS

      Nature genetics
    17. PENNYBACKER M; LIESSEM B; MOCZALL H; TIFFT CJ; SANDHOFF K; PROIA RL
      IDENTIFICATION OF DOMAINS IN HUMAN BETA-HEXOSAMINIDASE THAT DETERMINESUBSTRATE-SPECIFICITY

      The Journal of biological chemistry
    18. COHEN MS; SAMANGOSPROUSE C; STERN HJ; CUSTER DA; VAUGHT DR; SAAL HM; TIFFT CJ; ROSENBAUM KN
      NEURODEVELOPMENTAL PROFILE OF INFANTS AND TODDLERS WITH OCULO-AURICULO-VERTEBRAL SPECTRUM AND THE CORRELATION OF PROGNOSIS WITH PHYSICAL FINDINGS

      American journal of medical genetics
    19. SAAL HM; SCHORRY EK; LOVELL AM; BALL W; EGELHOFF J; KOCH B; SAMANGOSPROUSE A; ROSENBAUM KN; STERN HJ; TIFFT CJ; VEZINA LG
      RACIAL-DIFFERENCES IN THE PREVALENCE OF OPTIC-NERVE GLIOMAS IN NEUROFIBROMATOSIS TYPE

      American journal of human genetics
    20. COHEN MS; SAMANGOSPROUSE CA; STERN HJ; ROSENBAUM KN; TIFFT CJ
      MACROCEPHALY IN NEUROFIBROMATOSIS TYPE-1

      American journal of human genetics
    21. MCLEAN SD; STERN HJ; ROSENBAUM KN; TIFFT CJ; SAAL HM
      THE NATURAL-HISTORY OF CAFE-AU-LAIT SPOTS IN YOUNG-CHILDREN WITH NEUROFIBROMATOSIS-1

      American journal of human genetics
    22. JOHNSON RC; TIFFT CJ; STANLEY W
      A DE-NOVO PARACENTRIC INVERSION, INV(11)(P13P15.5) IN A CHILD WITH ISOLATED ANIRIDIA

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/01/21 alle ore 23:42:56