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La ricerca find articoli where authors phrase all words ' GOODMAN BK' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Tuck-Muller, CM; Goodman, BK; Li, SB; Martinez, JE; Chen, XN; Wertelecki, W; Korenberg, JR; Stetten, G
      Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel

      GENETICS IN MEDICINE
    2. Praphanphoj, V; Goodman, BK; Thomas, GH; Niel, KM; Toomes, C; Dixon, MJ; Geraghty, MT
      Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

      GENOMICS
    3. Cargile, CB; McIntosh, I; Clough, MV; Rutberg, J; Yaghmai, R; Goodman, BK; Chen, XN; Korenberg, JR; Thomas, GH; Geraghty, MT
      Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Goodman, BK; Rutberg, J; Lin, WW; Pulver, AE; Thomas, GH; Geraghty, MT
      Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

      JOURNAL OF INHERITED METABOLIC DISEASE
    5. Crawford, TO; Mandir, AS; Lefton-Greif, MA; Goodman, SN; Goodman, BK; Sengul, H; Lederman, HM
      Quantitative neurologic assessment of ataxia-telangiectasia

      NEUROLOGY
    6. Praphanphoj, V; Goodman, BK; Thomas, GH; Raymond, GV
      Cryptic subtelomeric translocations in the 22q13 deletion syndrome

      JOURNAL OF MEDICAL GENETICS
    7. Sacksteder, KA; Biery, BJ; Morrell, JC; Goodman, BK; Geisbrecht, BV; Cox, RP; Gould, SJ; Geraghty, MT
      Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. Camacho, JA; Obie, C; Biery, B; Goodman, BK; Hu, CA; Almashanu, S; Steel, G; Casey, R; Lambert, M; Mitchell, GA; Valle, D
      Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter

      NATURE GENETICS
    9. Goodman, BK; Stone, K; Coddett, JM; Cargile, CB; Gurewitsch, ED; Blakemore, KJ; Stetten, G
      Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat

      PRENATAL DIAGNOSIS
    10. Sigurdardottir, S; Goodman, BK; Rutberg, J; Thomas, GH; Jabs, EW; Geraghty, MT
      Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ''complete ring" syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. TRONCHE C; GOODMAN BK; GREENBERG MM
      DNA-DAMAGE INDUCED VIA INDEPENDENT GENERATION OF THE RADICAL RESULTING FROM FORMAL HYDROGEN-ATOM ABSTRACTION FROM THE C1'-POSITION OF A NUCLEOTIDE

      Chemistry & biology
    12. Goodman, BK; Shaffer, LG; Rutberg, J; Leppert, M; Harum, K; Gagos, S; Ray, JH; Bialer, MG; Zhou, XT; Pletcher, BA; Shapira, SK; Geraghty, MT
      Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. STETTEN G; GOODMAN BK; FOX HE
      NEW CYTOGENETIC TECHNOLOGY AND ITS APPLICATION IN MATERNAL-FETAL MEDICINE

      Journal of maternal-fetal investigation
    14. GREENBERG MM; YOO DJ; GOODMAN BK
      C1' ACYLATED DERIVATIVES OF 2'-DEOXYURIDINE - PHOTOLABILE PRECURSORS OF 2'-DEOXYURIDIN-1'-YL

      Nucleosides & nucleotides
    15. GOODMAN BK; CAPONE GT; HENNESSEY J; THOMAS GH
      FAMILIAL TANDEM DUPLICATION OF BANDS Q31.1 TO Q32.3 ON CHROMOSOME-4 WITH MILD PHENOTYPIC EFFECT

      American journal of medical genetics
    16. ARCH EM; GOODMAN BK; VANWESEP RA; LIAW D; CLARKE K; PARSONS R; MCKUSICK VA; GERAGHTY MT
      DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE

      American journal of medical genetics
    17. CAMACHO JA; GOODMAN BK; HAMOSH A; HURKO O; THOMAS GH
      MIDAS SYNDROME IN A 46,XX NEWBORN WITH AMBIGUOUS GENITALIA AND A CRYPTIC, DE-NOVO X-Y TRANSLOCATION

      American journal of human genetics
    18. ARCH EM; GOODMAN BK; LIAW D; PARSONS R; VANWESEP RA; CLARKE K; MCKUSICK VA; GERAGHTY MT
      DELETION OF 10Q23.2-Q24.1 INCLUDING PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE

      American journal of human genetics
    19. GOODMAN BK; LEPPERT M; HARUM K; RUTBERG J; THOMAS GH; GERAGHTY MT
      DUPLICATION XQ27-QTER AT XP22.3 IN A SEVERELY AFFECTED CHILD AND HIS PHENOTYPICALLY NORMAL MOTHER

      American journal of human genetics
    20. GREENBERG MM; BARVIAN MR; COOK GP; GOODMAN BK; MATRAY TJ; TRONCHE C; VENKATESAN H
      DNA-DAMAGE INDUCED VIA 5,6-DIHYDROTHYMID-5-YL IN SINGLE-STRANDED OLIGONUCLEOTIDES

      Journal of the American Chemical Society
    21. VOCKLEY JG; GOODMAN BK; TABOR DE; KERN RM; JENKINSON CP; GRODY WW; CEDERBAUM SD
      LOSS OF FUNCTION MUTATIONS IN CONSERVED REGIONS OF THE HUMAN ARGINASE-I GENE

      Biochemical and molecular medicine
    22. WISSMANN PB; GOODMAN BK; VOCKLEY JG; KERN RM; CEDERBAUM SD; GRODY WW
      DELIVERY OF CYTOSOLIC LIVER ARGINASE INTO THE MITOCHONDRIAL MATRIX SPACE - A POSSIBLE NOVEL SITE FOR GENE REPLACEMENT THERAPY

      Somatic cell and molecular genetics
    23. GOODMAN BK; GREENBERG MM
      INDEPENDENT GENERATION AND REACTIVITY OF 2'-DEOXYURID-1'-YL

      Journal of organic chemistry
    24. GOODMAN BK; GREEN ED; LEWANDA AF; ROSENGREN S; JABS EW
      MOLECULAR CYTOGENETIC ANALYSIS OF CHROMOSOME 7P ANOMALIES AND CLINICAL CORRELATION WITH SAETHRE-CHOTZEN SYNDROME

      American journal of human genetics
    25. VOCKLEY JG; TABOR DE; KERN RM; GOODMAN BK; WISSMANN PB; KANG DS; GRODY WW; CEDERBAUM SD
      IDENTIFICATION OF MUTATIONS (D128G, H141L) IN THE LIVER ARGINASE GENEOF PATIENTS WITH HYPERARGININEMIA

      Human mutation
    26. GOODMAN BK; KLEIN D; TABOR DE; VOCKLEY JG; CEDERBAUM SD; GRODY WW
      FUNCTIONAL AND MOLECULAR ANALYSIS OF LIVER ARGINASE PROMOTER SEQUENCES FROM MAN AND MACACA-FASCICULARIS

      Somatic cell and molecular genetics
    27. GOODMAN BK; KLEIN D; TABOR DE; KERN RM; VOCKLEY JG; CEDERBAUM SD; GRODY WW
      FUNCTIONAL-ANALYSIS OF THE LIVER ARGINASE PROMOTER

      American journal of human genetics
    28. TABOR DE; VOCKLEY JG; KERN RM; GOODMAN BK; WISSMAN PW; GRODY WW; CEDERBAUM SD
      PCR-SSCP MUTATION DETECTION ANALYSIS OF HUMAN LIVER-ARGINASE - IDENTIFICATION OF A POINT MUTATION IN 2 UNRELATED ASKRENAZI JEWISH FAMILIES

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/10/20 alle ore 01:06:57