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La ricerca find articoli where authors phrase all words ' PUNNETT HH' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. Han, XY; Wu, SS; Conway, DH; Pawel, BR; Punnett, HH; Martin, RA; de Chadarevian, JP
      Truncus arteriosus and other lethal internal anomalies in Goltz syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    2. Punnett, HH; Tomczak, EZ; Pawel, BR; de Chadarevian, JP; Sorensen, PHB
      ETV6-NTRK3 gene fusion in metastasizing congenital fibrosarcoma

      MEDICAL AND PEDIATRIC ONCOLOGY
    3. Johnson, EI; Marinescu, RC; Punnett, HH; Tenenholz, B; Overhauser, J
      5p14 deletion associated with microcephaly and seizures

      JOURNAL OF MEDICAL GENETICS
    4. Coventry, S; Punnett, HH; Tomczak, EZ; Casher, D; Koehler, M; Borowitz, MJ; Griffin, CA; de Chadarevian, JP
      Consistency of isochromosome 7q and trisomy 8 in hepatosplenic gamma deltaT-cell lymphoma: Detection by fluorescence in situ hybridization of a splenic touch-preparation from a pediatric patient

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    5. Punnett, HH; de Chadarevian, JP; Tomczak, EZ
      Consistent aneuploidies in choroid plexus papillomas

      GENES CHROMOSOMES & CANCER
    6. Rogan, PK; Sabol, DW; Punnett, HH
      Maternal uniparental disomy of chromosome 21 in a normal child

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. GUSTAVSSON P; GARELLI E; DRAPTCHINSKAIA N; BALL S; WILLIG TN; TENTLER D; DIANZANI I; PUNNETT HH; SHAFER FE; CARIO H; RAMENGHI U; GLOMSTEIN A; PFEIFFER RA; GORINGE A; OLIVIERI NF; SMIBERT E; TCHERNIA G; ELINDER G; DAHL N
      IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY

      American journal of human genetics
    8. GOTTLIEB S; DRISCOLL DA; PUNNETT HH; SELLINGER B; EMANUEL BS; BUDARF ML
      CHARACTERIZATION OF 10P DELETIONS SUGGESTS 2 NONOVERLAPPING REGIONS CONTRIBUTE TO THE DIGEORGE-SYNDROME PHENOTYPE

      American journal of human genetics
    9. SCHNUR RE; GAO M; WICK PA; KELLER M; BENKE PJ; EDWARDS MJ; GRIX AW; HOCKEY A; JUNG JH; KIDD KK; KISTENMACHER M; LEVIN AV; LEWIS RA; MUSARELLA MA; NOWAKOWSKI RW; ORLOW SJ; PAGON RS; PILLERS DAM; PUNNETT HH; QUINN GE; TEZCAN K; WAGSTAFF J; WELEBER RG
      OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM

      American journal of human genetics
    10. DAVIDSON A; KHANDELWAL M; PUNNETT HH
      PRENATAL-DIAGNOSIS OF THE 22Q11 DELETION SYNDROME

      Prenatal diagnosis
    11. ENGLE JC; PUNNETT HH; FINVER SN
      PCR ANALYSIS OF CHROMOSOMAL-ABNORMALITIES IN REHO-1, A PRE-B LEUKEMIC-CELL LINE

      American journal of human genetics
    12. SCHELL U; WIENBERG J; KOHLER A; BRAYWARD P; WARD DE; WILSON WG; ALLEN WP; LEBEL RR; SAWYER JR; CAMPBELL PL; AUGHTON DJ; PUNNETT HH; LAMMER EJ; KAO FT; WARD DC; MUENKE M
      MOLECULAR CHARACTERIZATION OF BREAKPOINTS IN PATIENTS WITH HOLOPROSENCEPHALY AND DEFINITION OF THE HPE2 CRITICAL REGION 2P21

      Human molecular genetics
    13. 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
    14. DECHADAREVIAN JP; PUNNETT HH; BILLMIRE DF; TOMCZAK EZ
      HYPERDIPLOIDY AND TRISOMY-12 IN THE CYSTIC PARTIALLY DIFFERENTIATED NEPHROBLASTOMA

      Human pathology
    15. SHKOLNY DL; BROWN TR; PUNNETT HH; KAUFMAN M; TRIFIRO MA; PINSKY L
      CHARACTERIZATION OF ALTERNATIVE AMINO-ACID SUBSTITUTIONS AT ARGININE-830 OF THE ANDROGEN RECEPTOR THAT CAUSE COMPLETE ANDROGEN INSENSITIVITY IN 3 FAMILIES

      Human molecular genetics
    16. KWOK C; WELLER PA; GUIOLI S; FOSTER JW; MANSOUR S; ZUFFARDI O; PUNNETT HH; DOMINGUEZSTEGLICH MA; BROOK JD; YOUNG ID; GOODFELLOW PN; SCHAFER AJ
      MUTATIONS IN SOX9, THE GENE RESPONSIBLE FOR CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL

      American journal of human genetics
    17. HANSON IM; FLETCHER JM; JORDAN T; BROWN A; TAYLOR D; ADAMS RJ; PUNNETT HH; VANHEYNINGEN V
      MUTATIONS AT THE PAX6 LOCUS ARE FOUND IN HETEROGENEOUS ANTERIOR SEGMENT MALFORMATIONS INCLUDING PETERS ANOMALY

      Nature genetics
    18. PUNNETT HH; TOMCZAK EW; DECHADAREVIAN JP; KANEV PM
      CYTOGENETIC ANALYSIS OF A CHOROID-PLEXUS PAPILLOMA

      Genes, chromosomes & cancer
    19. ROSE NJ; MACKAY K; DEPAEPE A; STEINMANN B; PUNNETT HH; DALGLEISH R
      3 UNRELATED INDIVIDUALS WITH PERINATALLY LETHAL OSTEOGENESIS-IMPERFECTA RESULTING FROM IDENTICAL GLY502SER SUBSTITUTIONS IN THE ALPHA-2-CHAIN OF TYPE-I COLLAGEN

      Human genetics
    20. PUNNETT HH
      SIMPSON-GOLABI-BEHMEL SYNDROME (SGBS) IN A FEMALE WITH AN X-AUTOSOME TRANSLOCATION

      American journal of medical genetics
    21. LEBO RV; CHANCE PF; DYCK PJ; REDILAFLORES MT; LYNCH ED; GOLBUS MS; BIRD TD; KING MC; ANDERSON LA; HALL J; WIEGANT J; JIANG ZR; DAZIN PF; PUNNETT HH; SCHONBERG SA; MOORE K; SHULL MM; GENDLER S; HURKO O; LOVELACE RE; LATOV N; TROFATTER J; CONNEALLY PM
      CHROMOSOME 1 CHARCOT-MARIE-TOOTH DISEASE (CMT1B) LOCUS IN THE FC-GAMMA RECEPTOR GENE REGION (VOL 88, PG 1, 1991)

      Human genetics
    22. PUNNETT HH
      PERICENTRIC-INVERSION OF CHROMOSOME-11 WITH INFERTILITY IN FEMALE CARRIERS

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/21 alle ore 21:26:21