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La ricerca find articoli where soggetti phrase all words 'arachnodactyly' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 18 riferimenti
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    1. Lin, CC; Tsai, JD; Lin, SP; Tzen, CY; Shen, EY; Shih, CS
      Galloway-Mowat syndrome: a glomerular basement membrane disorder?

      PEDIATRIC NEPHROLOGY
    2. Rajagopalan, B
      Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Milewicz, DM; Urban, Z; Boyd, C
      Genetic disorders of the elastic fiber system

      MATRIX BIOLOGY
    4. Belleh, S; Zhou, GM; Wang, M; Der Kaloustian, VM; Pagon, RA; Godfrey, M
      Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Rumball, KM; Pang, E; Letts, RM
      Musculoskeletal manifestations of the Antley-Bixler syndrome

      JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
    6. FUJISAWA Y; YAMASHITA K; NAKAMURA Y; KIDA K
      INCREASED URINARY-EXCRETION OF PYRIDINOLINE AND DEOXYPYRIDINOLINE IN A GIRL WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY

      Journal of pediatric endocrinology & metabolism
    7. PARK ES; PUTNAM EA; CHITAYAT D; CHILD A; MILEWICZ DM
      CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY INDICATES AN IMPORTANT ROLE OF THE DOMAINS ENCODED BY EXONS 24 THROUGH 34 DURING HUMAN-DEVELOPMENT

      American journal of medical genetics
    8. COURTENS W; TJALMA W; MESSIAEN L; VAMOS E; MARTIN JJ; VANBOGAERT E; KEERSMAEKERS G; MEULYZER P; WAUTERS J
      PRENATAL-DIAGNOSIS OF A CONSTITUTIONAL INTERSTITIAL DELETION OF CHROMOSOME-5 (Q15Q31.1) PRESENTING WITH FEATURES OF CONGENITAL CONTRACTURALARACHNODACTYLY

      American journal of medical genetics
    9. PHADKE SR; GULATI R; AGARWAL SS
      FURTHER DELINEATION OF A NEW (VAN-DEN-ENDE-GUPTA) SYNDROME OF BLEPHAROPHIMOSIS, CONTRACTURAL ARACHNODACTYLY, AND CHARACTERISTIC FACE

      American journal of medical genetics
    10. SOUA H; METHEMMEM N; AYADI A; BOUGHAMOURA L; SFAR MT
      ARACHNODACTYLY WITH CONTRACTURES - SEVERE NEONATAL MARFANS-SYNDROME

      Annales de pediatrie
    11. FARAH S; SABRY MA; ALSHUBAILI AFK; ANIM JT; HUSSAIN JM; MONTASER MA; SHARFUDDIN KM
      HEREDITARY SPASTIC PARAPARESIS WITH DISTAL MUSCLE WASTING, MICROCEPHALY, MENTAL-RETARDATION, ARACHNODACTYLY AND TREMORS - NEW ENTITY

      Clinical neurology and neurosurgery
    12. HASSED S; SHEWMAKE K; TEO C; CURTIS M; CUNNIFF C
      SHPRINTZEN-GOLDBERG SYNDROME WITH OSTEOPENIA AND PROGRESSIVE HYDROCEPHALUS

      American journal of medical genetics
    13. JURENKA SB; VANALLEN MI
      ADDITIONAL CASE OF CRANIOFACIAL AND DIGITAL ANOMALIES AS REPORTED BY HARROD ET-AL

      American journal of medical genetics
    14. KOSZTOLANYI G; WEISENBACH J; MEHES K
      SYNDROME OF ARACHNODACTYLY, DISTURBANCE OF CRANIAL OSSIFICATION, PROTRUDING EYES, FEEDING DIFFICULTIES, AND MENTAL-RETARDATION

      American journal of medical genetics
    15. HOU JW; WANG TR
      GALLOWAY-MOWAT SYNDROME IN TAIWAN

      American journal of medical genetics
    16. VANBEVER Y; HENNEKAM RCM
      HASPESLAGH SYNDROME WITHOUT SEVERE MENTAL-RETARDATION AND PTERYGIA

      Clinical genetics
    17. HAYWARD C; PORTEOUS MEM; BROCK DJH
      A NOVEL MUTATION IN THE FIBRILLIN GENE (FBN1) IN FAMILIAL ARACHNODACTYLY

      Molecular and cellular probes
    18. BISTRITZER T; FRIED K; LAHAT E; DVIR M; GOLDBERG M
      CONGENITAL CONTRACTURAL ARACHNODACTYLY IN 2 DOUBLE 2ND COUSINS - POSSIBLE HOMOZYGOSITY

      Clinical genetics


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Documento generato il 20/01/21 alle ore 02:54:09