Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'ATR-X SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 18 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Fichera, M; Silengo, M; Spalletta, A; Lo Giudice, M; Romano, C; Ragusa, A
      Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene

      PRENATAL DIAGNOSIS
    2. Lazzaro, MA; Picketts, DJ
      Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf21

      JOURNAL OF NEUROCHEMISTRY
    3. Pask, A; Renfree, MB
      Sex determining genes and sexual differentiation in a marsupial

      JOURNAL OF EXPERIMENTAL ZOOLOGY
    4. Gibbons, RJ; Higgs, DR
      Molecular-clinical spectrum of the ATR-X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Stevenson, RE; Abidi, F; Schwartz, CE; Lubs, HA; Holmes, LB
      Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Bachoo, S; Gibbons, RJ
      Germline and gonosomal mosaicism in the ATR-X syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Neri, G; Opitz, J
      Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Abidi, F; Schwartz, CE; Carpenter, NJ; Villard, L; Fontes, M; Curtis, M
      Carpenter-Waziri syndrome results from a mutation in XNP

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. LACOMBE D
      DYSMORPHIC SYNDROMES AND REGULATOR GENES

      Archives de pediatrie
    10. HASHIDA H; GOTO J; ZHAO ND; TAKAHASHI N; HIRAI M; KANAZAWA I; SAKAKI Y
      CLONING AND MAPPING OF ZNF231, A NOVEL BRAIN-SPECIFIC GENE ENCODING NEURONAL DOUBLE ZINC-FINGER PROTEIN WHOSE EXPRESSION IS ENHANCED IN A NEURODEGENERATIVE DISORDER, MULTIPLE SYSTEM ATROPHY (MSA)

      Genomics (San Diego, Calif.)
    11. GASPERINI D; PERSEU L; MELIS MA; MACCIONI L; SOLLAINO MC; PAGLIETTI E; CAO A; GALANELLO R
      HETEROZYGOUS BETA-THALASSEMIA WITH THALASSEMIA-INTERMEDIA PHENOTYPE

      American journal of hematology
    12. CAPEL B
      SEX IN THE 90S - SRY AND THE SWITCH TO THE MALE PATHWAY

      Annual review of physiology
    13. LOPEZLOPEZ M; ZENTENO JC; MENDEZ JP; KOFMANALFARO S
      GENETIC-HETEROGENEITY AND PHENOTYPIC VARI ABILITY IN 46,XY SEX REVERSAL

      Revista de Investigacion Clinica
    14. MALLERY DL; TANGANELLI B; COLELLA S; STEINGRIMSDOTTIR H; VANGOOL AJ; TROELSTRA C; STEFANINI M; LEHMANN AR
      MOLECULAR ANALYSIS OF MUTATIONS IN THE CSB (ERCC6) GENE IN PATIENTS WITH COCKAYNE-SYNDROME

      American journal of human genetics
    15. WEATHERALL DJ
      MECHANISMS FOR THE HETEROGENEITY OF THE THALASSEMIAS

      International journal of pediatric hematology/oncology
    16. MCELREAVEY K; FELLOUS M
      SEX-DETERMINING GENES

      Trends in endocrinology and metabolism
    17. VILLARD L; LACOMBE D; FONTES M
      A POINT MUTATION IN THE XNP GENE, ASSOCIATED WITH AN ATR-X PHONOTYPE WITHOUT ALPHA-THALASSEMIA

      European journal of human genetics
    18. KUROSAWA K; ASOH M; AKATSUKA A; MATSUO T; OCHIAI Y; MAEKAWA K
      A JAPANESE PATIENT WITH X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATIONSYNDROME - AN ADDITIONAL CASE-REPORT

      Japanese journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 02:16:27