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La ricerca find articoli where authors phrase all words 'Kambouris, M' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Martignetti, JA; Al Aqeel, A; Al Sewairi, W; Boumah, CE; Kambouris, M; Al Mayouf, S; Sheth, KV; Al Eid, W; Dowling, O; Harris, J; Glucksman, MJ; Bahabri, S; Meyer, BF; Desnick, RJ
      Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

      NATURE GENETICS
    2. Bohlega, S; Al-Tahan, A; Kambouris, M; Divakaran, M
      Neurodegenerative Huntington-like disorder

      MOVEMENT DISORDERS
    3. Wahab, AA; Al Thani, G; Dawod, ST; Kambouris, M; Al Hamed, M
      Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)

      JOURNAL OF TROPICAL PEDIATRICS
    4. Kambouris, M; Banjar, H; Moggari, I; Nazer, H; Al-Hamed, M; Meyer, BF
      Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

      EUROPEAN JOURNAL OF PEDIATRICS
    5. Bohlega, S; Kambouris, M; Shahid, M; Al Homsi, M; Al Sous, W
      Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)

      NEUROLOGY
    6. Kambouris, M; Meyer, BF
      Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3 - Reply

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Kambouris, M; Bohlega, S; Al-Tahan, A; Meyer, BF
      Localization of the gene for a novel autosomal recessive neurodegenerativeHuntington-like disorder to 4p15.3

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. Velegraki, A; Kambouris, M; Kostourou, A; Chalevelakis, G; Legakis, NJ
      Rapid extraction of fungal DNA from clinical samples for PCR amplification

      MEDICAL MYCOLOGY
    9. Al-Tahan, AY; Divakaran, MP; Kambouris, M; Bohlega, S; Salih, M; Ogunniyi, A; Al-Ghanmi, H
      A novel autosomal recessive "Huntington's disease-like" neurodegenerative disorder in a Saudi family

      SAUDI MEDICAL JOURNAL
    10. Banjar, H; Kambouris, M; Meyer, BF; Al-Mehaidib, A; Mogarri, I
      Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

      ANNALS OF TROPICAL PAEDIATRICS
    11. Diaz, GA; Gelb, BD; Ali, F; Sakati, N; Sanjad, S; Meyer, BF; Kambouris, M
      Sanjad-sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Al-Jishi, E; Meyer, BF; Rashed, MS; Al-Essa, M; Al-Hamed, MH; Sakati, N; Sanjad, S; Ozand, PT; Kambouris, M
      Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency

      CLINICAL GENETICS
    13. QARI MH; KHALIL SH; KAMBOURIS M; MEYER BF
      MUTATION OF P16, P21 OR CYCLIN-DEPENDENT KINASE-4 IS RARE IN ACUTE LYMPHOBLASTIC-LEUKEMIA

      British Journal of Haematology
    14. STEPHENS JC; REICH DE; GOLDSTEIN DB; SHIN HD; SMITH MW; CARRINGTON M; WINKLER C; HUTTLEY GA; ALLIKMETS R; SCHRIML L; GERRARD B; MALASKY M; RAMOS MD; MORLOT S; TZETIS M; ODDOUX C; DIGIOVINE FS; NASIOULAS G; CHANDLER D; ASEEV M; HANSON M; KALAYDJIEVA L; GLAVAC D; GASPARINI P; KANAVAKIS E; CLAUSTRES M; KAMBOURIS M; OSTRER H; DUFF G; BARANOV V; SIBUL H; METSPALU A; GOLDMAN D; MARTIN N; DUFFY D; SCHMIDTKE J; ESTIVILL X; OBRIEN SJ; DEAN M
      DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES

      American journal of human genetics
    15. MEYER B; QARI M; KAMBOURIS M; KHALIL S
      SCREENING OF PRIMARY ACUTE LYMPHOBLASTIC-LEUKEMIA SAMPLES FOR THE PRESENCE OF MUTATIONS IN THE P16, P21 AND CDK4 GENES

      Blood
    16. BATAVIA M; GIANUTSOS JG; KAMBOURIS M
      AN AUGMENTED AUDITORY-FEEDBACK DEVICE

      Archives of physical medicine and rehabilitation
    17. ALJISHI E; MEYER BF; RASHED M; ALHAMED MH; SAKATI N; SANJAD S; OZAND PT; KAMBOURIS M
      MOLECULAR ANALYSES OF THE GLUTATHIONE SYNTHETASE (GSS) GENE IN PATIENTS WITH PYROGLUTAMIC ACIDURIA

      American journal of human genetics
    18. KAMBOURIS M; RAHBEENI Z; MEYER BF; ALYAMANI EA; OZAND PT; RAHSED M
      MUTATION SCREENING OF THE MCAD GENE IN PATIENTS WITH BIOCHEMICAL MEDIUM-CHAIN FATTY-ACID OXIDATION DEFECTS (MCFAOD)

      American journal of human genetics
    19. KAMBOURIS M; JACKSON CE; FELDMAN GL
      DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA [MEN] 2A, 2B AND FAMILIAL MEDULLARY-THYROID CANCER [FMTC] BY MULTIPLEX PCR AND HETERODUPLEX ANALYSES OF RET PROTOONCOGENE MUTATIONS

      Human mutation
    20. KAMBOURIS M; SNOW K; THIBODEAU S; BLUHM D; GREEN M; FELDMAN GL
      SEGREGATION OF THE FRAGILE-X MUTATION FROM A MALE WITH A FULL MUTATION - UNUSUAL SOMATIC INSTABILITY IN THE FMR-1 LOCUS

      American journal of medical genetics
    21. DENNEHY PJ; FELDMAN GL; KAMBOURIS M; OMALLEY ER; SANDERS CY; JACKSON CE
      RELATIONSHIP OF FAMILIAL PROMINENT CORNEAL NERVES AND LESIONS OF THE TONGUE RESEMBLING NEUROMAS TO MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B

      American journal of ophthalmology
    22. KAMBOURIS M; JACKSON CE; FELDMAN GL
      DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA [MEN] 2A, 2B AND FAMILIAL MEDULLARY-THYROID CANCER [FMTC] BY MULTIPLEX PCR AND HETERODUPLEX ANALYSES OF RET PROTOONCOGENE MUTATIONS

      American journal of human genetics
    23. KAMBOURIS M; TRIARHOU LC; DLOUHY SR; SANGAMESWARAN L; LUO F; GHETTI B; HODES ME
      NOVEL CDNA CLONES OBTAINED BY ANTIBODY SCREENING OF A MOUSE CEREBELLAR CDNA EXPRESSION LIBRARY

      Molecular brain research
    24. KAMBOURIS M; SANGAMESWARAN L; TRIARHOU LC; KOZAK CA; DLOUHY SR; GHETTI B; HODES ME
      MOLECULAR CHARACTERIZATION OF A NOVEL CDNA FROM MURINE CEREBELLUM, DEVELOPMENTAL EXPRESSION, AND DISTRIBUTION IN BRAIN

      Molecular brain research
    25. GOLDSTEIN DJ; KAMBOURIS M; WARD RE
      FAMILIAL CROSSED POLYSYNDACTYLY

      American journal of medical genetics
    26. FELDMAN GL; KAMBOURIS M; TALPOS GB; MULLIGAN LM; PONDER BAJ; JACKSON CE
      CLINICAL-VALUE OF DIRECT DNA ANALYSIS OF THE RET PROTOONCOGENE IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A

      Surgery
    27. KAMBOURIS M; SANGAMESWARAN L; DLOUHY SR; HODES ME; GHETTI B; TRIARHOU LC
      CELLULAR-DISTRIBUTION OF THE RNA TRANSCRIPTS OF A NEWLY DISCOVERED GENE IN THE BRAIN OF NORMAL, WEAVER, PURKINJE-CELL DEGENERATION AND REELER MUTANT MICE AS EVIDENCED BY INSITU HYBRIDIZATION HISTOCHEMISTRY

      Molecular brain research
    28. KAMBOURIS M; SANGAMESWARAN L; TRIARHOU LC; KOZAK CA; DLOUHY SR; GHETTI B; HODES ME
      MOLECULAR CHARACTERIZATION OF 2 NOVEL CDNAS OBTAINED BY ANTIBODY SCREENING OF A MOUSE CEREBELLAR CDNA EXPRESSION LIBRARY

      Journal of neuropathology and experimental neurology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 01:21:56