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La ricerca find articoli where authors phrase all words ' Wegner, RD' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 31 riferimenti
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    1. Nothwang, HG; Kim, HG; Aoki, J; Geisterfer, M; Kubart, S; Wegner, RD; van Moers, A; Ashworth, LK; Haaf, T; Bell, J; Arai, H; Tommerup, N; Ropers, HH; Wirth, J
      Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

      HUMAN MOLECULAR GENETICS
    2. Becker, R; Schmitz, L; Guschmann, M; Wegner, RD; Stiemer, B; Entezami, M
      Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    3. Tonnies, H; Stumm, M; Wegner, RD; Chudoba, I; Kalscheuer, V; Neitzel, H
      Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

      CYTOGENETICS AND CELL GENETICS
    4. Stumm, M; Neubauer, S; Keindorff, S; Wegner, RD; Wieacker, P; Sauer, R
      High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

      CYTOGENETICS AND CELL GENETICS
    5. Becker, R; Wegner, RD; Kunze, J; Runkel, S; Vogel, M; Entezami, M
      Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

      CLINICAL GENETICS
    6. Hiel, JA; Weemaes, CM; van den Heuvel, LP; van Engelen, BG; Gabreels, FJ; Smeets, DF; van der Burgt, I; Chrzanovska, KH; Bernatowska, E; Krajewska-Walasek, M; Bialecka, M; Abramczuk, D; Gregorek, H; Michalkiewicz, I; Perek, D; Midro, AT; Seemanova, E; Belohradsky, BH; Solder, B; Barbi, G; Wegner, RD; Sperling, K; Dixon, J; Maraschio, P; Marseglia, GL; Green, A; Taylor, AM; Der Kaloustian, VM; Komatsu, K; Matsuura, S; Conley, ME; Concannon, P; Gatti, RA
      Nijmegen breakage syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    7. Sandoval, N; Platzer, M; Rosenthal, A; Dork, T; Bendix, R; Skawran, B; Stuhrmann, M; Wegner, RD; Sperling, K; Banin, S; Shiloh, Y; Baumer, A; Bernthaler, U; Sennefelder, H; Brohm, M; Weber, BHF; Schindler, D
      Characterization of ATM gene mutations in 66 ataxia telangiectasia families

      HUMAN MOLECULAR GENETICS
    8. Waisfisz, Q; Saar, K; Morgan, NV; Altay, C; Leegwater, PA; de Winter, JP; Komatsu, K; Evans, GR; Wegner, RD; Reis, A; Joenje, H; Arwert, F; Mathew, CG; Pronk, JC; Digweed, M
      The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. SAAR K; SCHINDLER D; WEGNER RD; REIS A; WIENKER TF; HOEHN H; JOENJE H; SPERLING K; DIGWEED M
      LOCALIZATION OF A FANCONI-ANEMIA GENE TO CHROMOSOME 9P

      European journal of human genetics
    10. SCHINDLER D; BAUMER A; BERNTHALER U; SENNEFELDER H; BROHM M; WEBER BHF; SANDOVAL N; PLATZER M; ROSENTHAL A; SHILOH Y; WEGNER RD; SPERLING K; DOERK T; BENDIX R; SKAWRAN B; STUHRMANNSPANGENBERG M
      MUTATION ANALYSIS IN THE ATM GENE OF 67 ATAXIA-TELANGIECTASIA (A-T) PATIENTS IN GERMANY

      European journal of human genetics
    11. YAMAZAKI V; WEGNER RD; KIRCHGESSNER CU
      CHARACTERIZATION OF CELL-CYCLE CHECKPOINT RESPONSES AFTER IONIZING-RADIATION IN NIJMEGEN BREAKAGE SYNDROME CELLS

      Cancer research
    12. WEGNER RD; BECKER R
      PRENATAL-DIAGNOSIS IN GERMANY

      European journal of human genetics
    13. CHRZANOWSKA K; STUMM M; BIALECKA M; SAAR K; BERNATOWSKAMATUSZKIEWICZ E; MICHALKIEWICZ J; BARSZCZ S; REIS A; WEGNER RD
      LINKAGE STUDIES EXCLUDE THE AT-V GENE(S) FROM THE TRANSLOCATION BREAKPOINTS IN AN AT-V PATIENT

      Clinical genetics
    14. STUMM M; SPERLING K; WEGNER RD
      NONCOMPLEMENTATION OF RADIATION-INDUCED CHROMOSOME-ABERRATIONS IN ATAXIA-TELANGIECTASIA ATAXIA-TELANGIECTASIA-VARIANT HETERODIKARYONS/

      American journal of human genetics
    15. SAAR K; CHRZANOWSKA KH; STUMM M; JUNG M; NURNBERG G; WIENKER TF; SEEMANOVA E; WEGNER RD; REIS A; SPERLING K
      THE GENE FOR THE ATAXIA-TELANGIECTASIA VARIANT, NIJMEGEN BREAKAGE SYNDROME, MAPS TO A 1-CM INTERVAL ON CHROMOSOME 8Q21

      American journal of human genetics
    16. LINSS G; GEBEL E; REIS A; WEGNER RD; PRUTZ D
      LOCALIZATION OF THE GENE DEFECT FOR THE NEVOID BASAL-CELL CARCINOMA SYNDROME (GORLIN-GOLTZ SYNDROME) AND OTHER CYTOLOGICAL INVESTIGATIONS IN ONE FAMILY

      EJD. European journal of dermatology
    17. 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
    18. WEGNER RD; SCHROCK E; OBLADEN M; BECKER R; STUMM M; SPERLING K
      PARTIAL TRISOMY MONOSOMY 6Q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE/

      Prenatal diagnosis
    19. WEGNER RD; HENRICHS I; JOENJE H; SCHROEDERKURTH T
      FANCONI-ANEMIA COMPLEMENTATION GROUP-E - CLINICAL AND CYTOGENETIC DATA OF THE FIRST PATIENT

      Clinical genetics
    20. SCHUFFENHAUER S; BARTSCH O; STUMM M; BUCHHOLZ T; PETROPOULOU T; KRAFT S; BELOHRADSKY B; HINKEL GK; MEITINGER T; WEGNER RD
      DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR

      Human genetics
    21. JOENJE H; TENFOE JRL; OOSTRA AB; VANBERKEL CGN; ROOIMANS MA; SCHROEDERKURTH T; WEGNER RD; GILLE JJP; BUCHWALD M; ARWERT F
      CLASSIFICATION OF FANCONI-ANEMIA PATIENTS BY COMPLEMENTATION ANALYSIS- EVIDENCE FOR A 5TH GENETIC SUBTYPE

      Blood
    22. STUMM M; GATTI RA; REIS A; UDAR N; CHRZANOWSKA K; SEEMANOVA E; SPERLING K; WEGNER RD
      THE ATAXIA-TELANGIECTASIA-VARIANT GENE-1 AND GENE-2 ARE DISTINCT FROMTHE ATAXIA-TELANGIECTASIA GENE ON CHROMOSOME-11Q23.1

      American journal of human genetics
    23. SPERLING K; PELZ J; WEGNER RD; DORRIES A; GRUTERS A; MIKKELSEN M
      FALLOUT FROM CHERNOBYL - AUTHORS STAND BY STUDY THAT CHERNOBYL INCREASED TRISOMY-21 IN BERLIN

      BMJ. British medical journal
    24. SPERLING K; PELZ J; WEGNER RD; DORRIES A; GRUTERS A; MIKKELSEN M
      SIGNIFICANT INCREASE IN TRISOMY-21 IN BERLIN 9 MONTHS AFTER THE CHERNOBYL REACTOR ACCIDENT - TEMPORAL CORRELATION OR CAUSAL RELATION

      BMJ. British medical journal
    25. GATTI RA; LANGE E; ROTMAN G; CHEN X; UHRHAMMER N; LIANG T; CHIPLUNKAR S; YANG L; UDAR N; DANDEKAR S; SHEIKHAVANDI S; WANG Z; YANG HM; POLIKOW J; ELASHOFF M; TELETAR M; SANAL O; CHESSA L; MCCONVILLE C; TAYLOR M; PORRAS O; BORRESEN AL; WEGNER RD; CURRY C; GERKEN S; LANGE K; CONCANNON P; SHILOH Y
      GENETIC HAPLOTYPING OF ATAXIA-TELANGIECTASIA FAMILIES LOCALIZES THE MAJOR GENE TO AN SIMILAR-TO-850 KB REGION ON CHROMOSOME 11Q23.1

      International journal of radiation biology
    26. ZOUBOULIS CC; STRATAKIS CA; RINCK G; WEGNER RD; GOLLNICK H; ORFANOS CE
      ULERYTHEMA-OPHRYOGENES AND KERATOSIS PILARIS IN A CHILD WITH MONOSOMY18P

      Pediatric dermatology
    27. WEGNER HEH; FERSZT A; WEGNER RD; DIECKMANN KP
      PRIMARY INFERTILITY DUE TO MIXED GONADAL- DYSGENESIS - REPORT OF 2 CASES AND REVIEW OF THE LITERATURE

      Der Urologe
    28. OVERBERGSCHMIDT US; WEGNER RD; BAUMGARTEN E; GUNTHER A; EBELL W; STEIN H; VOGEL M; HENZE G
      LOW-GRADE NON-HODGKINS-LYMPHOMA AFTER HIGH-GRADE NON-HODGKINS-LYMPHOMA IN A CHILD WITH ATAXIA TELEANGIECTASIA

      Cancer
    29. BAUMGARTEN E; WEGNER RD; FENGLER R; KOCH H; HENZE G
      PARTIAL TRISOMY 1Q, AN UNCOMMON CHROMOSOMAL ABERRATION IN ERYTHROLEUKEMIA

      Leukemia & lymphoma
    30. TOMMERUP N; MORTENSEN E; NIELSEN MH; WEGNER RD; SCHINDLER D; MIKKELSEN M
      CHROMOSOMAL BREAKAGE, ENDOMITOSIS, ENDOREDUPLICATION, AND HYPERSENSITIVITY TOWARD RADIOMIMETRIC AND ALKYLATING-AGENTS - A POSSIBLE NEW AUTOSOMAL RECESSIVE MUTATION IN A GIRL WITH CRANIOSYNOSTOSIS AND MICROCEPHALY

      Human genetics
    31. WEGNER HEH; KLAN R; WEGNER RD; KNISPEL HH; FERSZT A; DIECKMANN KP
      MIXED GONADAL-DYSGENESIS ASSOCIATED WITH UNILATERAL CAVERNOSAL FIBROSIS AND PRESENTING AS A CYSTIC LOWER ABDOMINAL-MASS

      European urology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 14:57:26