Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where authors phrase all words ' ADES LC' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 20 riferimenti
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    1. Robertson, SP; Gattas, M; Rogers, M; Ades, LC
      Macrocephaly - cutis marmorata telangiectatica congenita: report of five patients and a review of the literature

      CLINICAL DYSMORPHOLOGY
    2. Villard, L; Fontes, M; Ades, LC; Gecz, J
      Identification of a mutation in the XNP/ATR-X gene in a family reported asSmith-Fineman-Myers syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Ades, LC; Davies, R; Haan, EA; Holman, KJ; Watson, KC; Sreetharan, D; Cao, SN; Milewicz, DM; Bateman, JF; Chiodo, AA; Eccles, M; McNoe, L; Harbord, M
      Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

      CLINICAL DYSMORPHOLOGY
    4. Kirk, EPE; Arbuckle, S; Ramm, PL; Ades, LC
      Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: Cerebro-costo-mandibular syndrome or a new syndrome?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. GIBSON MA; ELLIS SL; ADES LC; HAAN E; CLEARY EG
      PREFERENTIAL PRE-MESSENGER-RNA UTILIZATION OF AN UPSTREAM CRYPTIC 5'-SPLICE-SITE CREATED BY A SINGLE-BASE DELETION MUTATION IN EXON-37 OF THE FBN-1 GENE

      European journal of biochemistry
    6. ADES LC
      SYRINGOHYDROMYELIA WITH VAN-BUCHEM-DISEASE - COMMENT

      American journal of neuroradiology
    7. ADES LC; HOLMAN KJ; WATSON KC; MURRELL M; CLARKE JTR; CHRISTODOULOU J
      CHARACTERIZATION OF AN FBN1 GENE MUTATION, G1013R, IN A CHILD WITH NEONATAL MARFAN-SYNDROME (NMFS) AND MITOCHONDRIAL COMPLEX (CI) DEFICIENCY

      American journal of human genetics
    8. MUENKE M; GRIPP KW; MCDONALDMCGINN DM; GAUDENZ K; WHITAKER LA; BARTLETT SP; MARKOWITZ RI; ROBIN NH; NWOKORO N; MULVIHILL JJ; LOSKEN HW; MULLIKEN JB; GUTTMACHER AE; WILROY RS; CLARKE LA; HOLLWAY G; ADES LC; HAAN EA; MULLEY JC; COHEN MM; BELLUS GA; FRANCOMANO CA; MOLONEY DM; WALL SA; WILKIE AOM; ZACKAI EH
      A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME

      American journal of human genetics
    9. ADES LC; KNIGHT WB; BYARD RW; BATEMAN JF; ESQUIVEL JAD; MEE RBB; HAAN EA; MILEWICZ DM
      CLINICOPATHOLOGICAL FINDINGS IN CONGENITAL ANEURYSMS OF THE GREAT-VESSELS

      American journal of medical genetics
    10. ADES LC
      MARFAN-SYNDROME IN ABORIGINALS

      Medical journal of Australia
    11. ADES LC; HAAN EA; COLLEY AF; RICHARDS RI
      CHARACTERIZATION OF 4 NOVEL FIBRILLIN-1 (FBN1) MUTATIONS IN MARFAN-SYNDROME

      Journal of Medical Genetics
    12. HOLLWAY GE; PHILLIPS HA; ADES LC; HAAN EA; MULLEY JC
      LOCALIZATION OF CRANIOSYNOSTOSIS ADELAIDE TYPE TO 4P16

      Human molecular genetics
    13. ADES LC; MORRIS LL; POWER RC; WILSON M; HAAN EA; BATEMAN JF; MILEWICZ DM; SILLENCE DO
      DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME

      American journal of medical genetics
    14. ADES LC; WALTHAM RD; CHIODO AA; BATEMAN JF
      MYOCARDIAL-INFARCTION RESULTING FROM CORONARY-ARTERY DISSECTION IN ANADOLESCENT WITH EHLERS-DANLOS SYNDROME TYPE-IV DUE TO A TYPE-III COLLAGEN MUTATION

      British Heart Journal
    15. GEDEON AK; KEINANEN M; ADES LC; KAARIAINEN H; GECZ J; BAKER E; SUTHERLAND GR; MULLEY JC
      OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITHDEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE

      American journal of human genetics
    16. ADES LC; MULLAY JC; SENGA IP; MORRIS LL; DAVID DJ; HAAN EA
      JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER

      American journal of medical genetics
    17. ADES LC; MORRIS LL; BURNS R; HAAN EA
      NEUROLOGICAL INVOLVEMENT IN WORTH TYPE ENDOSTEAL HYPEROSTOSIS - REPORT OF A FAMILY

      American journal of medical genetics
    18. ADES LC; CLAPTON WK; MORPHETT A; MORRIS LL; HAAN EA
      POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - ANEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV

      American journal of medical genetics
    19. ADES LC; ROGERS M; SILLENCE DO
      AN X-LINKED RETICULATE PIGMENTARY DISORDER WITH SYSTEMIC MANIFESTATIONS - REPORT OF A 2ND FAMILY

      Pediatric dermatology
    20. ADES LC; MORRIS LL; RICHARDSON M; PEARSON C; HAAN EA
      CONGENITAL HEART MALFORMATION IN YUNIS-VARON SYNDROME

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/08/20 alle ore 18:26:44