Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where authors phrase all words ' Tolmie, JL' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 35 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Whiteford, ML; Doig, WB; Raine, PAM; Hollman, AS; Tolmie, JL
      A new case of Myhre syndrome

      CLINICAL DYSMORPHOLOGY
    2. Tobias, ES; Bryce, G; Farmer, G; Barton, J; Colgan, J; Morrison, N; Cooke, A; Tolmie, JL
      Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

      JOURNAL OF MEDICAL GENETICS
    3. Dundar, M; Gordon, TM; Ozyazgan, I; Oguzkaya, F; Ozkul, Y; Cooke, A; Wilkinson, AG; Holloway, S; Goodman, FR; Tolmie, JL
      A novel acropectoral syndrome maps to chromosome 7q36

      JOURNAL OF MEDICAL GENETICS
    4. Crow, YJ; Jackson, AP; Roberts, E; van Beusekom, E; Barth, P; Corry, P; Ferrie, CD; Hamel, BCJ; Jayatunga, R; Karbani, G; Kalmanchey, R; Kelemen, A; King, M; Kumar, R; Livingstone, J; Massey, R; McWilliam, R; Meager, A; Rittey, C; Stephenson, JBP; Tolmie, JL; Verrips, A; Voit, T; van Bokhoven, H; Brunner, HG; Woods, CG
      Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Marsh, DJ; Kum, JB; Lunetta, KL; Bennett, MJ; Gorlin, RJ; Ahmed, SF; Bodurtha, J; Crowe, C; Curtis, MA; Dasouki, M; Dunn, T; Feit, H; Geraghty, MT; Graham, JM; Hodgson, SV; Hunter, A; Korf, BR; Manchester, D; Miesfeldt, S; Murday, VA; Nathanson, KL; Parisi, M; Pober, B; Romano, C; Tolmie, JL; Trembath, R; Winter, RM; Zackai, EH; Zori, RT; Weng, LP; Dahia, PLM; Eng, C
      PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

      HUMAN MOLECULAR GENETICS
    6. Tobias, ES; Morrison, N; Whiteford, ML; Tolmie, JL
      Towards earlier diagnosis of 22q11 deletions

      ARCHIVES OF DISEASE IN CHILDHOOD
    7. FitzPatrick, DR; Hill, A; Tolmie, JL; Thorburn, DR; Christodoulou, L
      The molecular basis of malonyl-CoA decarboxylase deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. CAMERON FM; CAMERON AD; CRAMPIN L; TOLMIE JL; WILKINSON AG; DONALDSON MDC
      2 SISTERS WITH PRENATAL GROWTH FAILURE, DISPROPORTIONATE SHORT STATURE, AND FEEDING DIFFICULTIES

      Clinical dysmorphology
    9. CROW YJ; TOLMIE JL
      RECURRENCE RISKS IN MENTAL-RETARDATION

      Journal of Medical Genetics
    10. GHAFFARI SR; BOYD E; TOLMIE JL; CROW YJ; TRAINER AH; CONNER JM
      A NEW STRATEGY FOR CRYPTIC TELOMERIC TRANSLOCATION SCREENING IN PATIENTS WITH IDIOPATHIC MENTAL-RETARDATION

      Journal of Medical Genetics
    11. CROW YJ; ZUBERI SM; MCWILLIAM R; TOLMIE JL; HOLLMAN A; POHL K; STEPHENSON JBP
      CATAPLEXY AND MUSCLE ULTRASOUND ABNORMALITIES IN COFFIN-LOWRY-SYNDROME

      Journal of Medical Genetics
    12. GHAFFARI SR; BOYD E; CONNOR JM; JONES AM; TOLMIE JL
      MOSAIC SUPERNUMERARY RING CHROMOSOME-19 IDENTIFIED BY COMPARATIVE GENOMIC HYBRIDIZATION

      Journal of Medical Genetics
    13. CROW YJ; TOLMIE JL; RIPPARD K; NAIRN L; WILKINSON AG; TURNER T
      SPONDYLOCOSTAL DYSOSTOSIS ASSOCIATED WITH A 46,XX,-15)(Q25-Q11.2) TRANSLOCATION(15,DIC(6)

      Clinical dysmorphology
    14. RENNIE AC; STEWART G; WHITEFORD M; JOHNSTON T; TOLMIE JL
      EXPECT THE WORSE OR HOPE FOR THE BEST - PRENATAL-DIAGNOSIS OF GELEOPHYSIC DYSPLASIA

      Prenatal diagnosis
    15. CROW YJ; TOLMIE JL; CROSSLEY JA; AITKEN DA
      MATERNAL SERUM ALPHA-FETOPROTEIN LEVELS IN CONGENITAL NEPHROSIS

      Prenatal diagnosis
    16. CROW YJ; TOLMIE JL; HOWATSON AG; PATRICK WJA; STEPHENSON JBP
      BATTEN-DISEASE IN THE WEST OF SCOTLAND 1974-1995 INCLUDING 5 CASES OFTHE JUVENILE FORM WITH GRANULAR OSMIOPHILIC DEPOSITS

      Neuropediatrics
    17. WHITEFORD ML; NARENDRA A; WHITE MP; COOKE A; WILKINSON AG; ROBERTSON KJ; TOLMIE JL
      PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-6 CAUSES TRANSIENT NEONATAL DIABETES

      Journal of Medical Genetics
    18. TOLMIE JL; DAY R; FREDERICKS B; GALEA P; MOFFETT AWG
      DOMINANTLY INHERITED CEREBRAL DYSPLASIA - ARACHNOID CYST ASSOCIATED WITH MILD MENTAL HANDICAP IN A MOTHER AND HER SON

      Journal of Medical Genetics
    19. CROW Y; TOLMIE JL
      MENTAL-RETARDATION RECURRENCE RISKS - WHAT THE PAPERS SAY

      Journal of Medical Genetics
    20. GHAFFARI SR; BOYD E; TOLMIE JL; CONNOR JM
      COMPARATIVE GENOMIC HYBRIDIZATION REVEALS THE ORIGIN OF A MOSAIC, SUPERNUMERARY RING CHROMOSOME-19 IN A 70-YEAR-OLD LADY WITH MENTAL-RETARDATION

      Journal of Medical Genetics
    21. DUNDAR M; DEMIRYILMAZ F; DEMIRYILMAZ I; KUMANDAS S; ERKILIC K; KENDIRCI M; TUNCEL M; OZYAZGAN I; TOLMIE JL
      AN AUTOSOMAL RECESSIVE ADDUCTED THUMB CLUB FOOT SYNDROME OBSERVED IN TURKISH COUSINS

      Clinical genetics
    22. CLARK BJ; LEE WR; DOYLE D; ARNGRIMSSON R; TOLMIE JL; STEPHENSON JBP
      A NOVEL PATTERN OF OCULOCEREBRAL MALFORMATION

      British journal of ophthalmology
    23. HUGHESBENZIE RM; PILIA G; XUAN JY; HUNTER AGW; CHEN E; GOLABI M; HURST JA; KOBORI J; MARYMEE K; PAGON RA; PUNNETT HH; SCHELLEY S; TOLMIE JL; WOHLFERD MM; GROSSMAN T; SCHLESSINGER D; MACKENZIE AE
      SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/

      American journal of medical genetics
    24. AHMED MAS; REID E; COOKE A; ARNGRIMSSON R; TOLMIE JL; STEPHENSON JBP
      FAMILIAL HEMIPLEGIC MIGRAINE IN THE WEST OF SCOTLAND - A CLINICAL ANDGENETIC-STUDY OF 7 FAMILIES

      Journal of Neurology, Neurosurgery and Psychiatry
    25. WHITEFORD ML; TOLMIE JL
      HOLOPROSENCEPHALY IN THE WEST OF SCOTLAND 1975-1994

      Journal of Medical Genetics
    26. REID E; MORRISON N; BARREN L; BOYD E; COOKE A; FIELDING D; TOLMIE JL
      FAMILIAL WOLF-HIRSCHHORN SYNDROME RESULTING FROM A CRYPTIC TRANSLOCATION - A CLINICAL AND MOLECULAR STUDY

      Journal of Medical Genetics
    27. BREWER CM; FREDERICKS BJ; PONT JMW; STEPHENSON JBP; TOLMIE JL
      X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY

      Developmental Medicine and Child Neurology
    28. BREWER CM; FREDERICKS BJ; PONT JMW; STEPHENSON JBP; TOLMIE JL
      X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY

      Developmental Medicine and Child Neurology
    29. BREWER CM; MORRISON N; TOLMIE JL
      CLINICAL AND MOLECULAR CYTOGENETIC (FISH) DIAGNOSIS OF WILLIAMS-SYNDROME

      Archives of Disease in Childhood
    30. WHITEFORD ML; COUTTS J; ALROOMI L; MATHER A; LOWTHER G; COOKE A; VAUGHAN JI; MOORE GE; TOLMIE JL
      UNIPARENTAL ISODISOMY FOR CHROMOSOME-16 IN A GROWTH-RETARDED INFANT WITH CONGENITAL HEART-DISEASE

      Prenatal diagnosis
    31. TOLMIE JL; DAVIDSON HR; MAY HM; MCINTOSH K; PATERSON JS; SMITH B
      THE PRENATAL EXCLUSION TEST FOR HUNTINGTONS-DISEASE - EXPERIENCE IN THE WEST OF SCOTLAND, 1986-1993

      Journal of Medical Genetics
    32. BREWER CM; TOLMIE JL
      FETAL VALPROATE SYNDROME - FOLLOW-UP OF INFANTS DIAGNOSED AT BIRTH

      Journal of Medical Genetics
    33. TOLMIE JL; SHILLITO P; HUGHESBENZIE R; STEPHENSON JBP
      THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS)

      Journal of Medical Genetics
    34. HUGHESBENZIE RM; TOLMIE JL; MCNAY M; PATRICK A
      SIMPSON-GOLABI-BEHMEL SYNDROME - DISPROPORTIONATE FETAL OVERGROWTH AND ELEVATED MATERNAL SERUM - ALPHA-FETOPROTEIN

      Prenatal diagnosis
    35. CHU CE; COOKE A; STEPHENSON JBP; TOLMIE JL; CLARKE B; PARRYJONES WL; CONNOR JM; DONALDSON MDC
      DIAGNOSIS IN PRADER-WILLI-SYNDROME

      Archives of Disease in Childhood


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/08/20 alle ore 14:49:09