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La ricerca find articoli where soggetti phrase all words 'CARTILAGE-HAIR HYPOPLASIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Fischer, A
      Primary T-lymphocyte immunodeficiencies

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    2. Makitie, OM; Tapanainen, PJ; Dunkel, L; Siimes, MA
      Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia

      ANNALS OF MEDICINE
    3. Castriota-Scanderbeg, A; Dallapiccola, B; Mingarelli, R; Kozlowski, K
      Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Edery, P; Le Deist, F; Briard, ML; Debre, M; Munnich, A; Griscelli, C; Fischer, A; Lyonnet, S
      B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

      JOURNAL OF MEDICAL GENETICS
    5. Balint, G; Szebenyi, B
      Hereditary disorders mimicking and/or causing premature osteoarthritis

      BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
    6. Boerkoel, CF; O'Neill, S; Andre, JL; Benke, PJ; Bogdanovic, R; Bulla, M; Burguet, A; Cockfield, S; Cordeiro, I; Ehrich, JHH; Frund, S; Geary, DF; Ieshima, A; Illies, F; Joseph, MW; Kaitila, I; Lama, G; Leheup, B; Ludman, MD; McLeod, DR; Medeira, A; Milford, DV; Ormala, T; Rener-Primec, Z; Santava, A; Santos, HG; Schmidt, B; Smith, GC; Spranger, J; Zupancic, N; Weksberg, R
      Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

      EUROPEAN JOURNAL OF PEDIATRICS
    7. Bailly, JL; Chambon, M; Henquell, C; Icart, J; Peigue-Lafeuille, H
      Genomic variations in echovirus 30 persistent isolates recovered from a chronically infected immunodeficient child and comparison with the reference strain

      JOURNAL OF CLINICAL MICROBIOLOGY
    8. Horwitz, ME
      Stem-cell transplantation for inherited immunodeficiency disorders

      PEDIATRIC CLINICS OF NORTH AMERICA
    9. Slaney, SF; Hall, CM; Atherton, DJ; Winter, RM
      A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia

      CLINICAL DYSMORPHOLOGY
    10. Ben-Yosef, T; Francomano, CA
      Characterization of the human Talin (TLN) gene: Genomic structure, chromosomal localization, and expression pattern

      GENOMICS
    11. Vakkilainen, T; Kivipensas, P; Kaitila, I; de le Chapelle, A; Ridanpaa, M
      Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13

      GENOMICS
    12. Alter, BP
      Bone marrow failure syndromes

      CLINICS IN LABORATORY MEDICINE
    13. Yel, L; Aggarwal, S; Gupta, S
      Cartilage-hair hypoplasia syndrome: Increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax,and Bcl(2)

      JOURNAL OF CLINICAL IMMUNOLOGY
    14. Cario, H; Bode, H; Gustavsson, P; Dahl, N; Kohne, E
      A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

      CLINICAL GENETICS
    15. SCHMIDT RE
      CLINICAL IMMUNOLOGY ARE THERE NEW RESULTS - DEFECT OF THE IMMUNE-SYSTEM(II) - CLINICS, DIAGNOSIS, THERAPY

      Allergologie
    16. MAKITIE O; KAITILA I; SAVILAHTI E
      SUSCEPTIBILITY TO INFECTIONS AND IN-VITRO IMMUNE FUNCTIONS IN CARTILAGE-HAIR HYPOPLASIA

      European journal of pediatrics
    17. SULISALO T; MAKITIE O; SISTONEN P; RIDANPAA M; ELRIFAI W; RUUSKANAEN O; DELACHAPELLE A; KAITILA I
      UNIPARENTAL DISOMY IN CARTILAGE-HAIR HYPOPLASIA

      European journal of human genetics
    18. MAKITIE O; KAITILA I
      GROWTH IN DIASTROPHIC DYSPLASIA

      The Journal of pediatrics
    19. DUNGAN JS; EMERSON DS; PHILLIPS OP; SHULMAN LP
      CARTILAGE-HAIR HYPOPLASIA SYNDROME - IMPLICATIONS FOR PRENATAL-DIAGNOSIS

      Fetal diagnosis and therapy
    20. TAKAYAMA S; KOCHEL K; IRIE S; INAZAWA J; ABE J; SATO T; DRUCK T; HUEBNER K; REED JC
      CLONING OF CDNAS ENCODING THE HUMAN BAG1 PROTEIN AND LOCALIZATION OF THE HUMAN BAG1 GENE TO CHROMOSOME 9P12

      Genomics
    21. DIANZANI I; GARELLI E; RAMENGHI U
      DIAMOND-BLACKFAN ANEMIA - A CONGENITAL DEFECT IN ERYTHROPOIESIS

      Haematologica
    22. HAGENAS L
      AUXOLOGICAL STANDARDS IN BONE DYSPLASIAS

      Hormone research
    23. MING JE; STIEHM ER; GRAHAM JM
      IMMUNODEFICIENCY AS A COMPONENT OF RECOGNIZABLE SYNDROMES

      American journal of medical genetics
    24. KOOIJMAN R; RIJKERS GT; ZEGERS BJM
      IGF-I POTENTIATES INTERLEUKIN-2 PRODUCTION IN HUMAN PERIPHERAL T-CELLS

      Journal of Endocrinology
    25. JUVONEN E; MAKITIE O; MAKIPERNAA A; RUUTU T; KAITILA I; RAJANTIE J
      DEFECTIVE IN-VITRO COLONY FORMATION OF HEMATOPOIETIC PROGENITORS IN PATIENTS WITH CARTILAGE-HAIR HYPOPLASIA AND HISTORY OF ANEMIA

      European journal of pediatrics
    26. SULISALO T; SILLENCE D; WILSON M; RYYNANEN M; KAITILA I
      EARLY PRENATAL-DIAGNOSIS OF CARTILAGE-HAIR HYPOPLASIA (CHH) WITH POLYMORPHIC DNA MARKERS

      Prenatal diagnosis
    27. CASTIGLI E; IRANI AM; GEHA RS; CHATILA T
      DEFECTIVE EXPRESSION OF EARLY ACTIVATION GENES IN CARTILAGE-HAIR HYPOPLASIA (CHH) WITH SEVERE COMBINED IMMUNODEFICIENCY (SCID)

      Clinical and experimental immunology
    28. OOSTERWIJK JC
      LOW SEGREGATION RATIOS IN AUTOSOMAL RECESSIVE DISORDERS

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/10/20 alle ore 01:05:53