Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'WITHOUT-TELANGIECTASIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 10 riferimenti
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    1. Khumalo, NP; Joss, DV; Huson, SM; Burge, S
      Pigmentary anomalies in ataxia-telangiectasia: a clue to diagnosis and an example of twin spotting

      BRITISH JOURNAL OF DERMATOLOGY
    2. Hassin-Baer, S; Bar-Shira, A; Gilad, S; Galanty, Y; Khosravi, R; Lossos, A; Giladi, N; Weitz, R; Ben-Zeev, B; Goldhammer, Y; Shiloh, Y
      Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

      JOURNAL OF NEUROLOGY
    3. TOYOSHIMA M; HARA T; ZHANG HD; YAMAMOTO T; AKABOSHI S; NANBA E; OHNO K; HORI N; SATO K; TAKESHITA K
      ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY - NOVEL POINT MUTATIONS WITHIN AND ADJACENT TO THE PHOSPHATIDYLINOSITOL 3-KINASE-LIKE DOMAIN

      American journal of medical genetics
    4. GILAD S; CHESSA L; KHOSRAVI R; RUSSELL P; GALANTY Y; PIANE M; GATTI RA; JORGENSEN TJ; SHILOH Y; BARSHIRA A
      GENOTYPE-PHENOTYPE RELATIONSHIPS IN ATAXIA-TELANGIECTASIA AND VARIANTS

      American journal of human genetics
    5. GILAD S; KHOSRAVI R; SHKEDY D; UZIEL T; ZIV Y; SAVITSKY K; ROTMAN G; SMITH S; CHESSA L; JORGENSEN TJ; HARNIK R; FRYDMAN M; SANAL O; PORTNOI S; GOLDWICZ Z; JASPERS NGJ; GATTI RA; LENOIR G; LAVIN MF; TATSUMI K; WEGNER RD; SHILOH Y; BARSHIRA A
      PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA

      Human molecular genetics
    6. DERKALOUSTIAN VM; KLEIJER W; BOOTH A; AUERBACH AD; MAZER B; ELLIOTT AM; ABISH S; USHER R; WATTERS G; VEKEMANS M; EYDOUX P
      POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME

      American journal of medical genetics
    7. DEGRAAF AS; DEJONG G; KLEIJER WJ
      AN EARLY-ONSET RECESSIVE CEREBELLAR DISORDER WITH DISTAL AMYOTROPHY AND, IN 2 PATIENTS, GROSS MYOCLONIA - A PROBABLE ATAXIA-TELANGIECTASIA VARIANT

      Clinical neurology and neurosurgery
    8. BUNDEY S
      CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA

      International journal of radiation biology
    9. CHUNG EO; BODENSTEINER JB; NOORANI PA; SCHOCHET SS
      CEREBRAL WHITE-MATTER CHANGES SUGGESTING LEUKODYSTROPHY IN ATAXIA-TELANGIECTASIA

      Journal of child neurology
    10. ZIV Y; FRYDMAN M; LANGE E; ZELNIK N; ROTMAN G; JULIER C; JASPERS NGJ; DAGAN Y; ABELIOVICZ D; DAR H; BOROCHOWITZ Z; LATHROP M; GATTI RA; SHILOH Y
      ATAXIA-TELANGIECTASIA - LINKAGE ANALYSIS IN HIGHLY INBRED ARAB AND DRUZE FAMILIES AND DIFFERENTIATION FROM AN ATAXIA-MICROCEPHALY-CATARACT SYNDROME

      Human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/21 alle ore 19:36:48