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La ricerca find articoli where authors phrase all words ' Gershoni-Baruch, R' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
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    1. Gershoni-Baruch, R; Shinawi, M; Leah, K; Badarnah, K; Brik, R
      Familial Mediterranean fever: prevalence, penetrance and genetic drift

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. Makhoul, IR; Aviram-Goldring, A; Paperna, T; Sujov, P; Rienstein, S; Smolkin, T; Epelman, M; Gershoni-Baruch, R
      Caudal dysplasia sequence with penile enlargement: Case report and a potential pathogenic hypothesis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Cormand, B; Pihko, H; Bayes, M; Valanne, L; Santavuori, P; Talim, B; Gershoni-Baruch, R; Ahmad, A; van Bokhoven, H; Brunner, HG; Voit, T; Topaloglu, H; Dobyns, WB; Lehesjoki, AE
      Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

      NEUROLOGY
    4. Levy-Lahad, E; Lahad, A; Eisenberg, S; Dagan, E; Paperna, T; Kasinetz, L; Catane, R; Kaufman, B; Beller, U; Renbaum, P; Gershoni-Baruch, R
      A single nucleotide polymorphism in the RAD51 gene modifies cancer risk inBRCA2 but not BRCA1 carriers

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    5. Brik, R; Litmanovitz, D; Berkowitz, D; Shamir, R; Rosenthal, E; Shinawi, M; Gershoni-Baruch, R
      Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain

      JOURNAL OF PEDIATRICS
    6. Dagan, E; Gershoni-Baruch, R
      Hereditary breast/ovarian cancer - pitfalls in genetic counseling

      CLINICAL GENETICS
    7. Brik, R; Shinawi, M; Kasinetz, L; Gershoni-Baruch, R
      The musculoskeletal manifestations of Familial Mediterranean fever in children genetically diagnosed with the disease

      ARTHRITIS AND RHEUMATISM
    8. Janssens, K; Gershoni-Baruch, R; Guanabens, N; Migone, N; Ralston, S; Bonduelle, M; Lissens, W; Van Maldergem, L; Vanhoenacker, F; Verbruggen, L; Van Hul, W
      Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease

      NATURE GENETICS
    9. Gershoni-Baruch, R; Dagan, E; Fried, G; Bar-Sade, RB; Sverdlov-Shiri, R; Zelicksson, G; Friedman, E
      Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer

      EUROPEAN JOURNAL OF CANCER
    10. Gershoni-Baruch, R; Dagan, E; Israeli, D; Kasinetz, L; Kadouri, E; Friedman, E
      Association of the C677T polymorphism in the MTHFR gene with breast and/orovarian cancer risk in Jewish women

      EUROPEAN JOURNAL OF CANCER
    11. Shinawi, M; Brik, R; Berant, M; Kasinetz, L; Gershoni-Baruch, R
      Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli-Arab population

      JOURNAL OF RHEUMATOLOGY
    12. Jayoussi-Assalia, R; Etzioni, A; Notarangelo, LD; Brill-Zamir, R; Kasinetz, L; Kadouri, E; Gershoni-Baruch, R
      Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis

      PRENATAL DIAGNOSIS
    13. Litmanovich, D; Zamir-Brill, R; Jeison, M; Gershoni-Baruch, R
      Is inversion 16 a prerequisite and is trisomy 22 invariably associated with inversion 16 in AML-M4eo?

      CANCER GENETICS AND CYTOGENETICS
    14. Knopf, C; Rod, R; Jaeken, J; Berant, M; Van Schaftingen, E; Fryns, JP; Brill-Zamir, R; Gershoni-Baruch, R; Lischinsky, S; Mandel, H
      Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

      JOURNAL OF INHERITED METABOLIC DISEASE
    15. Veitzman, E; Shenkar, L; Shoshany, G; Kasinetz, L; Gershoni-Baruch, R; Zamir, RB; Baruch, Y
      Detection of transplanted liver cells to the spleen by semiquantitative analysis using PCR for the Sry region on the Y chromosome

      TRANSPLANTATION PROCEEDINGS
    16. Janssens, K; Gershoni-Baruch, R; Van Hul, E; Brik, R; Guanabens, N; Migone, N; Verbruggen, LA; Ralston, SH; Bonduelle, M; Van Maldergem, L; Vanhoenacker, F; Van Hul, W
      Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

      JOURNAL OF MEDICAL GENETICS
    17. Gershoni-Baruch, R; Patael, Y; Dagan; Figer, A; Kasinetz, L; Kadouri, E; Bar Sade, RB; Friedman, E
      Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers

      BRITISH JOURNAL OF CANCER
    18. Tiosano, D; Pannain, S; Vassart, G; Parma, J; Gershoni-Baruch, R; Mandel, H; Lotan, R; Zaharan, Y; Pery, M; Weiss, RE; Refetoff, S; Hochberg, Z
      The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor

      THYROID
    19. Gershoni-Baruch, R; Dagan, E; Fried, G; Kepten, I; Robinson, E
      BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Patael, Y; Figer, A; Gershoni-Baruch, R; Papa, MZ; Risel, S; Shtoyerman-Chen, R; Karasik, A; Theodor, L; Friedman, E
      Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Brik, R; Shinawi, M; Kepten, I; Berant, M; Gershoni-Baruch, R
      Familial Mediterranean fever: Clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients

      PEDIATRICS
    22. Oren, I; Brook, JG; Gershoni-Baruch, R; Kepten, I; Tamir, A; Linn, S; Wolfovitz, E
      The D allele of the angiotensin-converting enzyme gene contributes towardsblood LDL-cholesterol levels and the presence of hypertension

      ATHEROSCLEROSIS
    23. Deligdisch, L; Gil, J; Kerner, H; Wu, HS; Beck, D; Gershoni-Baruch, R
      Ovarian dysplasia in prophylactic oophorectomy specimens - Cytogenetic andmorphometric correlations

      CANCER
    24. Sprecher, E; Bergman, R; Szargel, R; Raz, T; Labay, V; Ramon, M; Baruch-Gershoni, R; Friedman-Birnbaum, R; Cohen, N
      Atrichia with papular lesions maps to 8p in the region containing the human hairless gene

      AMERICAN JOURNAL OF MEDICAL GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 14:40:50