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La ricerca find articoli where authors phrase all words ' Llerena, JC' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 31 riferimenti
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    1. Orioli, IM; Castilla, EE; Ming, JE; Nazer, J; de Aguiar, MJB; Llerena, JC; Muenke, M
      Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

      HUMAN GENETICS
    2. Rivero, MB; Olicio, R; Lima, CR; Bonvicino, CR; Moreira, MAM; Llerena, JC; Seuanez, HN
      Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Llerena, JC; de Almeida, JCC; Bastos, E; Crolla, JA
      FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving theWAGR region

      GENETICS AND MOLECULAR BIOLOGY
    4. Mulatinho, MV; Llerena, JC; Pimentel, MMG
      FRAXE mutation in mentally retarded patients using the OxE18 probe

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    5. Mulatinho, MV; Llerena, JC; Pimentel, MMG
      FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

      GENETIC TESTING
    6. Vargas, FR; Schuler-Faccini, L; Brunoni, D; Kim, C; Meloni, VFA; Sugayama, SMM; Albano, L; Llerena, JC; Almeida, JCC; Duarte, A; Cavalcanti, DP; Goloni-Bertollo, E; Conte, A; Koren, G; Addis, A
      Prenatal exposure to misoprostol and vascular disruption defects: A case-control study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. LLERENA JC; DEALMEIDA JCC
      CYTOGENETIC AND MOLECULAR CONTRIBUTIONS TO THE STUDY OF MENTAL-RETARDATION

      GENETICS AND MOLECULAR BIOLOGY
    8. dos Santos, CMC; Correia, PS; Rosa, AAS; Vanazzi, E; Coelho, JC; Burin, MG; Giugliani, R; Fensom, AH; de Oliveira, CPH; de Oliveira, MLC; Llerena, JC
      Early infantile form of galactosialidosis in a female baby with a prenataldiagnosis of fetal ascites - First case in Brazil

      GENETICS AND MOLECULAR BIOLOGY
    9. LLERENA JC
      REGARDING THE SMITH-MAGENIS-SYNDROME MULTIDISCIPLINARY CLINICAL-STUDY

      American journal of medical genetics
    10. SIMONI RE; DEOLIVEIRA CPH; BRAGA MJ; DEMENEZES CRG; LLERENA JC; CORREIA PS; SANTAROSA AA; HOROVITZ DG; CHAVES CRM; DEOLIVEIRA MLC
      HYPERARGININEMIA - A LATE-DIAGNOSED BRAZILIAN CASE WITH INCREASED URINARY-EXCRETION OF HOMOCYSTINE

      Journal of inherited metabolic disease
    11. DEALMEIDA JC; LLERENA JC; SANTAROSA AAP; JOYCE C; CROLLA J
      A COMPLEX CHROMOSOMAL REARRANGEMENT WITH AT LEAST 16 BREAKPOINTS IN AMENTALLY-RETARDED BOY CHARACTERIZED BY FISH

      American journal of human genetics
    12. GIBSON RA; MORGAN NV; GOLDSTEIN LH; PEARSON IC; KESTERTON IP; FOOT NJ; JANSEN S; HAVENGA C; PEARSON T; DERAVEL TJ; COHN RJ; MARQUES IM; DOKAL I; ROBERTS I; MARSH J; BALL S; MILNER RD; LLERENA JC; SAMOCHATOVA E; MOHAN SP; VASUDEVAN P; BIRJANDI F; HAJIANPOUR A; MURERORLANDO M; MATHEW CG
      NOVEL MUTATIONS AND POLYMORPHISMS IN THE FANCONI-ANEMIA GROUP C GENE

      Human mutation
    13. BAUMSTARK A; BARBI G; DJALALI M; GEERKENS C; MITULLA B; MATTFELDT T; DEALMEIDA JCC; VARGAS FR; LLERENA JC; VOGEL W; JUST W
      XP-DUPLICATIONS WITH AND WITHOUT SEX REVERSAL

      Human genetics
    14. HOROVITZ DDG; NETO JGB; BOY R; VARGAS FR; LLERENA JC; DEALMEIDA JCC
      AUTOSOMAL-DOMINANT OSTEOSCLEROSIS TYPE STANESCU - THE 3RD FAMILY

      American journal of medical genetics
    15. VARGAS FR; PONTES RL; LLERENA JC; DEALMEIDA JCC
      ABSENT TIBIAE-POLYDACTYLY TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA -VARIABLE EXPRESSION OF THE WERNER (MCKUSICK 188770) SYNDROME

      American journal of medical genetics
    16. DEALMEIDA JCC; VARGAS FR; BARBOSANETO JG; LLERENA JC
      CODAS SYNDROME - A NEW DISTINCT MCA MR SYNDROME WITH RADIOLOGICAL CHANGES OF SPONDYLOEPIPHYSEAL DYSPLASIA - ANOTHER CASE-REPORT/

      American journal of medical genetics
    17. BOY R; HOROVITZ D; VARGAS FR; NETO JGB; LLERENA JC; ALMEIDA JCC
      FURTHER REPORT OF A PATIENT WITH HUMERORADIOULNAR SYNOSTOSIS AND HYDRONEPHROSIS

      Journal of Medical Genetics
    18. GOLDSCHMIDT B; CABRERA MAA; WEINZETL M; LLERENA JC
      CYTOGENETIC STUDY IN A SPECIMEN OF CEBUS-APELLA WITH AN ATYPICAL PHENOTYPE

      Folia primatologica
    19. LIMA TA; LLERENA JC; VARGAS FR; JUNG M; MARTINS RR; DEALMEIDA JCC
      BOSMA SEQUENCE (HYPOPLASIA OF THE NOSE, EYE COLOBOMA, ANOSMIA AND HYPOGONADOTROPIC HYPOGONADISM)

      American journal of human genetics
    20. VARGAS FR; HOROVITZ DG; LLERENA JC; CUNHA A; DEALMEIDA JCC
      OMPHALOCELE AND RADIAL APLASIA - REPORT OF 2 PATIENTS

      American journal of human genetics
    21. LLERENA JC; VARGAS F; DEALMEIDA JCC
      MILLER-DIEKER AND NORMAN-ROBERTS SYNDROMES - FISH INVESTIGATION IN 2 DISTINCT ENTITIES WITH LISSENCEPHALY TYPE-I

      American journal of human genetics
    22. GIBSON RA; FORD D; JANSEN S; SAVOIA A; HAVENGA C; MILNER RD; DERAVEL TJ; COHN RJ; BALL SE; ROBERTS I; LLERENA JC; VORECHOVSKY I; PEARSON T; BIRJANDI F; HUSSEIN SS; MURERORLANDO M; EASTON DF; MATHEW CG
      GENETIC-MAPPING OF THE FACC GENE AND LINKAGE ANALYSIS IN FANCONI-ANEMIA FAMILIES

      Journal of Medical Genetics
    23. GONZALEZ CH; VARGAS FR; PEREZ ABA; KIM CA; BRUNONI D; MARQUESDIAS MJ; LEONE CR; NETO JC; LLERENA JC; DEALMEIDA JCC
      LIMB DEFICIENCY WITH OR WITHOUT MOBIUS SEQUENCE IN 7 BRAZILIAN CHILDREN ASSOCIATED WITH MISOPROSTOL USE IN THE 1ST TRIMESTER OF PREGNANCY

      American journal of medical genetics
    24. DEALMEIDA JCC; LLERENA JC
      PETERS PLUS SYNDROME

      American journal of medical genetics
    25. LLERENA JC; BOY R; NETO JB; VARGAS F; FONTANA C; DEALMEIDA JCC; DEOLIVEIRA MCB; BOECHAT PR; MUSTACCHI Z
      ABDOMINAL ULTRASOUND SCAN IN DOWN-SYNDROME PATIENTS - HIGH-FREQUENCY OF NONSYMPTOMATIC BILIARY-TRACT DISEASE

      American journal of medical genetics
    26. MURERORLANDO M; LLERENA JC; BIRJANDI F; GIBSON RA; MATHEW CG
      FACC GENE-MUTATIONS AND EARLY PRENATAL-DIAGNOSIS OF FANCONIS ANEMIA

      Lancet
    27. LLERENA JC; DEGRAVE W; DEMIRANDA A; SUFFYS P
      CYSTIC-FIBROSIS AND DEAFNESS

      Journal of Medical Genetics
    28. LLERENA JC; VERMA S; GALO H; DEALMEIDA JCC
      APLASTIC-ANEMIA AS A MAIN REFERRAL FOR FANCONI-ANEMIA SCREENING

      American journal of human genetics
    29. VARGAS FR; LLERENA JC; BARBOSANETO JG; DEALMEIDA JCC
      RADIAL RAY DEFECTS AND ASSOCIATED ANOMALIES

      American journal of human genetics
    30. JUST W; VOGEL W; LLERENA JC; VARGAS FR; MARTINS RR; DEALMEIDA JCC
      XP DUPLICATION (P21-PTER) IN A PATIENT WITH Y-CHROMOSOME, MICROPENIS,CONGENITAL-ANOMALIES BUT AN UNAMBIGUOUS MALE EXTERNAL GENITALIA

      American journal of human genetics
    31. BARBOSANETO JG; OLIVEIRA ML; CARVALHO CMR; ALONSO MR; VARGAS FR; LLERENA JC; DEALMEIDA JCC
      LYSOSOMALSTORAGE DISEASE IN A MALE-PATIENT WITH AN UNUSUAL URINARY OLIGOSACCHARIDE PATTERN

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 08:39:45