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La ricerca find articoli where authors phrase all words ' AALFS CM' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 17 riferimenti
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    1. Aalfs, CM; Salieb-Beugelaar, GB; Wanders, RJA; Mannens, MMAM; Wijburg, FA
      A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis

      HUMAN MUTATION
    2. Kalff-Suske, M; Wild, A; Topp, J; Wessling, M; Jacobsen, EM; Bornholdt, D; Engel, H; Heuer, H; Aalfs, CM; Ausems, MGEM; Barone, R; Herzog, A; Heutink, P; Homfray, T; Gillessen-Kaesbach, G; Konig, R; Kunze, J; Meinecke, P; Muller, D; Rizzo, R; Strenge, S; Superti-Furga, A; Grzeschik, KH
      Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome

      HUMAN MOLECULAR GENETICS
    3. Aalfs, CM; Hoovers, JMN; Wijburg, FA
      Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Bijlsma, EK; Aalfs, CM; Sluijter, S; Luttikhuis, MEMO; Trembath, RC; Hoovers, JMN; Hennekam, RCM
      Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

      JOURNAL OF MEDICAL GENETICS
    5. Knight, SW; Heiss, NS; Vulliamy, TJ; Aalfs, CM; McMahon, C; Richmond, P; Jones, A; Hennekam, RCM; Poustka, A; Mason, PJ; Dokal, I
      Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

      BRITISH JOURNAL OF HAEMATOLOGY
    6. DEUTZTERLOUW PP; LOSEKOOT M; AALFS CM; HENNEKAM RCM; BAKKER E
      ASN540THR SUBSTITUTION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 TYROSINE KINASE DOMAIN CAUSING HYPOCHONDROPLASIA

      Human mutation
    7. AALFS CM; FANTES JA; WENNIGERPRICK LJJM; SLUIJTER S; HENNEKAM RCM; VANHEYNINGEN V; HOOVERS JMN
      TANDEM DUPLICATION OF 11P12-P13 IN A CHILD WITH BORDERLINE DEVELOPMENT DELAY AND EYE ABNORMALITIES - DOSE-EFFECT OF THE PAX6 GENE-PRODUCT

      American journal of medical genetics
    8. PUTNAM EA; PARK ES; AALFS CM; HENNEKAM RCM; MILEWICZ DM
      PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A FBN2 MUTATION AND ANALYSIS OF FBN2 TRANSCRIPT LEVELS IN DERMAL FIBROBLASTS

      American journal of human genetics
    9. AALFS CM; OOSTERWIJK JC; VANSCHOONEVELD MJ; BEGEMAN CJ; WABEKE KB; HENNEKAM RCM
      CATARACTS, RADICULOMEGALY, SEPTAL HEART-DEFECTS AND HEARING-LOSS IN 2UNRELATED ADULT FEMALES WITH NORMAL INTELLIGENCE AND SIMILAR FACIAL APPEARANCE - CONFIRMATION OF A SYNDROME

      Clinical dysmorphology
    10. AALFS CM; VANSCHOONEVELD MJ; VANKEULEN EM; HENNEKAM RCM
      FURTHER DELINEATION OF THE ACRO-RENAL-OCULAR SYNDROME

      American journal of medical genetics
    11. AALFS CM; JACOBS ME; NIESTEOTTER MA; HENNEKAM RCM; HOOVERS JMN
      2 SUPERNUMERARY MARKER CHROMOSOMES, DERIVED FROM CHROMOSOME-6 AND CHROMOSOME-9, IN A BOY WITH MILD DEVELOPMENTAL DELAY

      Clinical genetics
    12. AALFS CM; VANDENBERG H; BARTH PG; HENNEKAM RCM
      THE HOYERAAL-HREIDARSSON SYNDROME - THE 4TH CASE OF A SEPARATE ENTITYWITH PRENATAL GROWTH-RETARDATION, PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA

      European journal of pediatrics
    13. AALFS CM; VANDENBERG H; BARTH PG; HENNEKAM RCM
      THE HOYERAAL-HREIDARSSON SYNDROME - DONT FORGET THE ASSOCIATED IMMUNODEFICIENCY - REPLY

      European journal of pediatrics
    14. AALFS CM; HENNEKAM RCM
      DIFFERENCES BETWEEN THE HOYERAAL-HREIDARSSON SYNDROME AND AN AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

      American journal of medical genetics
    15. AALFS CM; HOOVERS JMN; NIESTEOTTER MA; MANNENS HMAM; HENNEKAM RCM; LESCHOT NJ
      FURTHER DELINEATION OF THE PARTIAL PROXIMAL TRISOMY 10Q SYNDROME

      Journal of Medical Genetics
    16. AALFS CM; KOELMAN JHTM; ARAMIDEH M; BOUR LJ; BRUYN RPM; DEVISSER BWO
      POSTERIOR TIBIAL NERVE SOMATOSENSORY-EVOKED POTENTIALS IN SLOWLY PROGRESSIVE SPASTIC PARAPLEGIA - A COMPARATIVE-STUDY WITH CLINICAL SIGNS

      Journal of neurology
    17. AALFS CM; KOELMAN JHTM; MEYJES FEP; DEVISSER BWO
      POSTERIOR TIBIAL AND SURAL NERVE SOMATOSENSORY-EVOKED POTENTIALS - A STUDY IN SPASTIC PARAPARESIS AND SPINAL-CORD LESIONS

      Electroencephalography and clinical neurophysiology


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Documento generato il 20/10/20 alle ore 09:07:46