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La ricerca find articoli where authors phrase all words ' BUNDEY S' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 35 riferimenti
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    1. Mehta, JS; Good, P; Maharaj, D; Butler, L; Bundey, S; O'Shea, J
      Rufous albinism

      JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
    2. Liu, XZ; Hope, C; Liang, CY; Zou, JM; Xu, LR; Cole, T; Mueller, RF; Bundey, S; Nance, W; Steel, KP; Brown, SDM
      A mutation (2314delG) in the usher syndrome type IIA gene: High prevalenceand phenotypic variation

      AMERICAN JOURNAL OF HUMAN GENETICS
    3. McHale, DP; Mitchell, S; Bundey, S; Moynihan, L; Campbell, DA; Woods, CG; Lench, NJ; Mueller, RF; Markham, AF
      A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

      AMERICAN JOURNAL OF HUMAN GENETICS
    4. HUTCHESSON ACJ; BUNDEY S; PREECE MA; HALL SK; GREEN A
      A COMPARISON OF DISEASE AND GENE-FREQUENCIES OF INBORN-ERRORS OF METABOLISM AMONG DIFFERENT ETHNIC-GROUPS IN THE WEST MIDLANDS, UK

      Journal of Medical Genetics
    5. LIU XZ; HOPE C; WALSH J; NEWTON V; KE XM; LIANG CY; XU LR; ZHOU JM; TRUMP D; STEEL KP; BUNDEY S; BROWN SDM
      MUTATIONS IN THE MYOSIN VIIA GENE CAUSE A WIDE PHENOTYPIC SPECTRUM, INCLUDING ATYPICAL USHER-SYNDROME

      American journal of human genetics
    6. COGAN JD; PRINCE MA; LEKHAKULA S; BUNDEY S; FUTRAKUL A; MCCARTHY EMS; PHILLIPS JA
      A NOVEL MECHANISM OF ABERRANT PRE-MESSENGER-RNA SPLICING IN HUMANS

      Human molecular genetics
    7. BUNDEY S
      FEW PSYCHOLOGICAL CONSEQUENCES OF PRESYMPTOMATIC TESTING FOR HUNTINGTON DISEASE

      Lancet
    8. MORTON JE; BUNDEY S; WEBB TP; MACDONALD F; RINDL PM; BULLOCK S
      FRAGILE-X-SYNDROME IS LESS COMMON THAN PREVIOUSLY ESTIMATED

      Journal of Medical Genetics
    9. BUNDEY S; HUTCHESSON A; DAY A; LANCASHIRE R
      ARE GENETIC-DISEASES LESS COMMON THAN EXPECTED IN AFRO-CARIBBEAN

      Journal of Medical Genetics
    10. BUNDEY S
      PREVALENCE AND TYPE OF CEREBRAL-PALSY

      Developmental Medicine and Child Neurology
    11. MITCHELL S; BUNDEY S
      SYMMETRY OF NEUROLOGICAL SIGNS IN PAKISTANI PATIENTS WITH PROBABLE INHERITED SPASTIC CEREBRAL-PALSY

      Clinical genetics
    12. HOPE CI; BUNDEY S; PROOPS D; FIELDER AR
      USHER-SYNDROME IN THE CITY OF BIRMINGHAM - PREVALENCE AND CLINICAL CLASSIFICATION

      British journal of ophthalmology
    13. TAYLOR TD; HATTORI H; BUNDEY S; MALANDRINI A; VILLANOVA M; FABRIZI GM; MALONE A; LITT M; HAYFLICK SJ
      EVIDENCE FOR LOCUS HETEROGENEITY IN HALLERVORDEN-SPATZ-SYNDROME

      American journal of human genetics
    14. STAVROU P; GOOD PA; BROADHURST EJ; BUNDEY S; FIELDER AR; CREWS SJ
      ERG AND EOG ABNORMALITIES IN CARRIERS OF X-LINKED RETINITIS-PIGMENTOSA

      Eye
    15. ROBERTS A; CULLEN R; BUNDEY S
      THE REPRESENTATION OF ETHNIC-MINORITIES AT GENETIC CLINICS IN BIRMINGHAM

      Journal of Medical Genetics
    16. COLLIER DA; BARRETT TG; CURTIS D; MACLEOD A; ARRANZ JM; MAASSEN JA; BUNDEY S
      LINKAGE OF WOLFRAM-SYNDROME TO CHROMOSOME 4P16.1 AND EVIDENCE FOR HETEROGENEITY

      American journal of human genetics
    17. BARRETT TG; POULTON K; BUNDEY S
      DIDMOAD SYNDROME - FURTHER-STUDIES AND MUSCLE BIOCHEMISTRY

      Journal of inherited metabolic disease
    18. BARRETT TG; BUNDEY S
      DIDMOAD SYNDROME - A DEGENERATIVE DILEMMA

      Journal of Medical Genetics
    19. MORTON JE; RINDL PM; BULLOCK S; BUNDEY S; WEBB T
      FRAGILE-X SYNDROME IS LESS COMMON THAN PREVIOUSLY ESTIMATED

      Journal of Medical Genetics
    20. COLLIER DA; BARRETT T; CURTIS D; MACLEOD A; BUNDEY S
      DIDMOAD SYNDROME - CONFIRMATION OF LINKAGE TO CHROMOSOME-4P, EVIDENCEFOR LOCUS HETEROGENEITY AND A PATIENT WITH UNIPARENTAL ISODISOMY FOR CHROMOSOME-49

      American journal of human genetics
    21. BUNDEY S
      CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA

      International journal of radiation biology
    22. LEE ST; NICHOLLS RD; BUNDEY S; LAXOVA R; MUSARELLA M; SPRITZ RA
      MUTATIONS OF THE P-GENE IN OCULOCUTANEOUS ALBINISM, OCULAR ALBINISM, AND PRADER-WILLI-SYNDROME PLUS ALBINISM

      The New England journal of medicine
    23. WATKISS E; BUNDEY S; WEBB T
      X-INACTIVATION STUDIES IN FEMALE MONOZYGOTIC TWINS

      Journal of Medical Genetics
    24. ALDRED MA; TEAGUE PW; JAY M; BUNDEY S; REDMOND RM; JAY B; BIRD AC; BHATTACHARYA SS; WRIGHT AF
      RETINITIS-PIGMENTOSA FAMILIES SHOWING APPARENT X-LINKED INHERITANCE BUT UNLINKED TO THE RP2 OR RP3 LOCI

      Journal of Medical Genetics
    25. WATKISS E; WEBB T; RYSIECKI G; GIRDLER N; HEWETT E; BUNDEY S
      X-INACTIVATION PATTERNS IN FEMALE MONOZYGOTIC TWINS AND THEIR FAMILIES

      Journal of Medical Genetics
    26. BUNDEY S; HARDY C; VICKERS S; KILPATRICK MW; CORBETT JA
      DUPLICATION OF THE 15Q11-13 REGION IN A PATIENT WITH AUTISM, EPILEPSYAND ATAXIA

      Developmental Medicine and Child Neurology
    27. TEAGUE PW; ALDRED MA; JAY M; DEMPSTER M; HARRISON C; CAROTHERS AD; HARDWICK LJ; EVANS HJ; STRAIN L; BROCK DJH; BUNDEY S; JAY B; BIRD AC; BHATTACHARYA SS; WRIGHT AF
      HETEROGENEITY ANALYSIS IN 40 X-LINKED RETINITIS-PIGMENTOSA FAMILIES

      American journal of human genetics
    28. CHEN ZY; BATTINELLI EM; FIELDER A; BUNDEY S; SIMS K; BREAKEFIELD XO; CRAIG IW
      A MUTATION IN THE NORRIE DISEASE GENE (NDP) ASSOCIATED WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY

      Nature genetics
    29. BUNDEY S; FIELDER A; POULTON K
      WOLFRAM-SYNDROME - MITOCHONDRIAL DISORDER

      Lancet
    30. SWEENEY MG; BUNDEY S; BROCKINGTON M; POULTON KR; WINER JB; HARDING AE
      MITOCHONDRIAL MYOPATHY ASSOCIATED WITH SUDDEN-DEATH IN YOUNG-ADULTS AND A NOVEL MUTATION IN THE MITOCHONDRIAL-DNA LEUCINE TRANSFER RNA(UUR)GENE

      Quarterly Journal of Medicine
    31. WATKISS E; WEBB T; BUNDEY S
      IS SKEWED X-INACTIVATION RESPONSIBLE FOR SYMPTOMS IN FEMALE CARRIERS FOR ADRENOLEUKODYSTROPHY

      Journal of Medical Genetics
    32. BUNDEY S; YOUNG ID
      LOW SEGREGATION RATIOS IN AUTOSOMAL RECESSIVE DISORDERS

      Journal of Medical Genetics
    33. TRIPATHI RK; BUNDEY S; MUSARELLA MA; DROETTO S; STRUNK KM; HOLMES SA; SPRITZ RA
      MUTATIONS OF THE TYROSINASE GENE IN INDO-PAKISTANI PATIENTS WITH TYPE-I (TYROSINASE-DEFICIENT) OCULOCUTANEOUS ALBINISM (OCA)

      American journal of human genetics
    34. CHEN ZY; BATTINELLI EM; FIELDER A; BUNDEY S; SIMS K; BREAKEFIELD XO; CRAIG IW
      IDENTIFICATION OF A MUTATION IN THE NORRIE DISEASE GENE (NDP) IN AFFECTED MEMBERS OF A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY

      American journal of human genetics
    35. FULLWOOD P; BUNDEY S; FIELDER AR; DUDGEON J; KILPATRICK MW
      X-LINKED EXUDATIVE VITREORETINOPATHY - CLINICAL-FEATURES AND LINKAGE ANALYSIS

      Investigative ophthalmology & visual science


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/21 alle ore 14:34:05