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La ricerca find articoli where authors phrase all words ' PAGON RA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 43 riferimenti
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    1. Pagon, RA; Pinsky, L; Beahler, CC
      Online medical genetics resources: a US perspective

      BRITISH MEDICAL JOURNAL
    2. Hanna, JAS; Ball, S; Pagon, RA; Donlan, M
      Mother to son transmission of del(1) (q42.1q42.3)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Pagon, RA; Hanson, NB; Neufeld-Kaiser, W; Covington, ML
      Genetic consultation

      WESTERN JOURNAL OF MEDICINE
    4. Pagon, RA; Pinsky, L
      The helix and health: applying genetics to primary care

      WESTERN JOURNAL OF MEDICINE
    5. Pagon, RA; Hanson, NB; Neufeld-Kaiser, W; Covington, ML
      Genetic testing

      WESTERN JOURNAL OF MEDICINE
    6. Tarczy-Hornoch, P; Shannon, P; Baskin, P; Espeseth, M; Pagon, RA
      GeneClinics: A hybrid text/data electronic publishing model using XML applied to clinical genetic testing

      JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
    7. Belleh, S; Zhou, GM; Wang, M; Der Kaloustian, VM; Pagon, RA; Godfrey, M
      Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Pagon, RA; Tarczy-Hornoch, P
      The virtues of the virtual world

      GENETICS IN MEDICINE
    9. Smith, W; Ji, HLP; Mouradian, W; Pagon, RA
      Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Presentation in two unrelated patients in the United States

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Dinulos, MB; Pagon, RA
      Autosomal dominant inheritance of Barber-Say syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Kawame, H; Hannibal, MC; Hudgins, L; Pagon, RA
      Phenotypic spectrum and management issues in Kabuki syndrome

      JOURNAL OF PEDIATRICS
    12. CAROLAN HM; PAGON RA; HUDGINS L
      NATURAL-HISTORY OF CANAVAN-DISEASE IN US PATIENTS

      Journal of investigative medicine
    13. RAFF ML; LEPPIG KA; RUTLEDGE JC; WEINBERGER E; PAGON RA
      BRACHYDACTYLY TYPE A1 WITH ABNORMAL MENISCI AND SCOLIOSIS IN 3 GENERATIONS

      Clinical dysmorphology
    14. BLAKE KD; DAVENPORT SLH; HALL BD; HEFNER MA; PAGON RA; WILLIAMS MS; LIN AE; GRAHAM JM
      CHARGE ASSOCIATION - AN UPDATE AND REVIEW FOR THE PRIMARY PEDIATRICIAN

      Clinical pediatrics
    15. MALZAC P; WEBBER H; MONCLA A; GRAHAM JM; KUKOLICH M; WILLIAMS C; PAGON RA; RAMSDELL LA; KISHINO T; WAGSTAFF J
      MUTATION ANALYSIS OF UBE3A IN ANGELMAN-SYNDROME PATIENTS

      American journal of human genetics
    16. ZHANG YH; GUO WW; WAGNER RL; HUANG BL; MCCABE L; VILAIN E; BURRIS TP; ANYANEYEBOA K; BURGHES AHM; CHITAYAT D; CHUDLEY AE; GENEL M; GERTNER JM; KLINGENSMITH GJ; LEVINE SN; NAKAMOTO J; NEW MI; PAGON RA; PAPPAS LC; QUIGLEY CA; ROSENTHAL IM; BAXTER JD; FETTERICK RJ; MCCABE ERB
      DAX1 MUTATIONS MAP TO PUTATIVE STRUCTURAL DOMAINS IN A DEDUCED 3-DIMENSIONAL MODEL

      American journal of human genetics
    17. KAWAME H; PAGON RA; HUDGINS L
      DIGITAL ANOMALIES, MICROCEPHALY, AND NORMAL INTELLIGENCE - NEW SYNDROME OR FEINGOLD SYNDROME

      American journal of medical genetics
    18. SCHOWALTER DB; PAGON RA; KALINA RE; MCDONALD R
      FACIO-OCULO-ACOUSTICO-RENAL (FOAR) SYNDROME - CASE-REPORT AND REVIEW

      American journal of medical genetics
    19. LEPPIG KA; DISTECHE CM; OPHEIM KE; PAGON RA; HUDGINS L
      FACTORS FAVORING THE DIAGNOSTIC YIELD OF 2ND CYTOGENETIC STUDIES FOR CONSTITUTIONAL ABNORMALITIES

      American journal of human genetics
    20. PAGON RA
      MULTILOCUS FISH ANALYSIS

      American journal of human genetics
    21. PAGON RA; HUDGINS L; KAPUR R
      IN DEFENSE OF STREETERS BANDS - A PREDICTABLE PATTERN OF CONSTRICTINGBANDS WITH OTHER ANOMALIES

      Journal of investigative medicine
    22. HUGHESBENZIE RM; PILIA G; XUAN JY; HUNTER AGW; CHEN E; GOLABI M; HURST JA; KOBORI J; MARYMEE K; PAGON RA; PUNNETT HH; SCHELLEY S; TOLMIE JL; WOHLFERD MM; GROSSMAN T; SCHLESSINGER D; MACKENZIE AE
      SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/

      American journal of medical genetics
    23. VANDERHOOFT SL; FRANCIS JS; PAGON RA; SMITH LT; SYBERT VP
      PREVALENCE OF HYPOPIGMENTED MACULES IN A HEALTHY POPULATION

      The Journal of pediatrics
    24. GUO WW; BURRIS TP; ZHANG YH; HUANG BL; MASON J; COPELAND KC; KUPFER SR; PAGON RA; MCCABE ERB
      GENOMIC SEQUENCE OF THE DAX1 GENE - AN ORPHAN NUCLEAR RECEPTOR RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM

      The Journal of clinical endocrinology and metabolism
    25. MCLAUGHLIN JF; PAGON RA; WEINBERGER E; HAAS JE
      MARINESCO-SJOGREN-SYNDROME - CLINICAL AND MAGNETIC-RESONANCE-IMAGING FEATURES IN 3 CHILDREN

      Developmental Medicine and Child Neurology
    26. MCLAUGHLIN JF; PAGON RA; WEINBERGER E; HAAS JE
      MARINESCO-SJOGREN-SYNDROME - CLINICAL AND MAGNETIC-RESONANCE-IMAGING FEATURES IN 3 CHILDREN

      Developmental Medicine and Child Neurology
    27. SYBERT VP; PAGON RA; RAMSDELL L; MARYMEE K
      TRUE AGONADISM - REPORT OF A CASE ANALYZED WITH Y-SPECIFIC DNA PROBES

      American journal of medical genetics
    28. HEIDET L; DAHAN K; ZHOU J; GROS F; COCHAT P; GUILLOT M; GUYOT C; PROESMANS W; ROUSSEL B; DAVID A; RAMSDELL LA; GOULD JDM; METTLER G; PAGON RA; MONGEAU JG; GUBLER MC; ANTIGNAC C
      MOLECULAR MECHANISMS UNDERLYING DIFFUSE E SOPHAGEAL LEIOMYOMATOSIS INPATIENTS WITH ALPORTS-SYNDROME

      Annales de pediatrie
    29. GUO W; BURRIS TP; ZHANG YH; HUANG BL; COPELAND KC; PAGON RA; MCCABE ERB
      ADRENAL HYPOPLASIA CONGENITA GENE, DAX-1 - GENOMIC STRUCTURE AND MUTATIONAL SCREENING

      American journal of human genetics
    30. DINULOS MB; PAGON RA
      AUTOSOMAL-DOMINANT INHERITANCE OF BARBER SYNDROME - DISTINCTIVE FACIAL FEATURES WITH OCULAR HYPERTELORISM, ECTROPION, MACROSTOMIA, CLEFT-PALATE, HIRSUTISM AND REDUNDANT SKIN

      American journal of human genetics
    31. KAWAME H; HUDGINS L; PAGON RA
      PHENOTYPIC SPECTRUM OF KABUKI MAKE-UP SYNDROME, IN 15 NORTH-AMERICAN PATIENTS

      American journal of human genetics
    32. RAFF ML; LEPPIG KA; RUTLEDGE JC; PAGON RA
      BRACHYDACTYLY TYPE A1 WITH BILATERAL DISCOID MENISCI AND SCOLIOSIS IN3 GENERATIONS

      American journal of human genetics
    33. SCHOWALTER DB; SCHIMMENTI LA; KALINA RE; PAGON RA
      FACIO-OCULAR-ACOUSTICO-RENAL (FOAR) SYNDROME - A CASE-REPORT AND CONSIDERATION OF A PAX2, CAUSATIVE MUTATION

      American journal of human genetics
    34. SYBERT VP; PAGON RA
      HYPOMELANOSIS OF ITO IN A GIRL WITH PLEXUS-PAPILLOMA AND TRANSLOCATION (X17)

      Human genetics
    35. MCGOWAN KF; PAGON RA
      OKIHIRO SYNDROME

      American journal of medical genetics
    36. SCHNUR RE; WICK PA; BAILEY C; REBBECK T; WELEBER RG; WAGSTAFF J; GRIX AW; PAGON RA; HOCKEY A; EDWARDS MJ
      PHENOTYPIC VARIABILITY IN X-LINKED OCULAR ALBINISM - RELATIONSHIP TO LINKAGE GENOTYPES

      American journal of human genetics
    37. SCHERER SW; POORKAJ P; ALLEN T; KIM J; GESHURI D; NUNES M; SODER S; STEPHENS K; PAGON RA; PATTON MA; BERG MA; DONLON T; RIVERA H; PFEIFFER RA; NARITOMI K; HUGHES H; GENUARDI M; GURRIERI F; NERI G; LOVREIN E; MAGENIS E; TSUI LC; EVANS JP
      FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1

      American journal of human genetics
    38. LEPPIG KA; BROWN CJ; BRESSLER SL; GUSTASHAW K; PAGON RA; WILLARD HF; DISTECHE CM
      MAPPING OF THE DISTAL BOUNDARY OF THE X-INACTIVATION CENTER IN A REARRANGED X-CHROMOSOME FROM A FEMALE EXPRESSING XIST

      Human molecular genetics
    39. TILSTRA DJ; GROVE M; SPENCER AC; NORWOOD TH; PAGON RA
      MOSAIC ISOCHROMOSOME-8P

      American journal of medical genetics
    40. KAPUR RP; PAGON RA
      SHORT RIB (POLYDACTYLY) SYNDROME TYPE-IV - BEEMER-LANGER SYNDROME - REPLY

      American journal of medical genetics
    41. NATHANS J; MAUMENEE IH; ZRENNER E; SADOWSKI B; SHARPE LT; LEWIS RA; HANSEN E; ROSENBERG T; SCHWARTZ M; HECKENLIVELY JR; TRABOULSI E; KLINGAMAN R; BECHHANSEN NT; LAROCHE GR; PAGON RA; MURPHEY WH; WELEBER RG
      GENETIC-HETEROGENEITY AMONG BLUE-CONE MONOCHROMATES

      American journal of human genetics
    42. HORWITZ MS; PAGON RA
      CONFIRMATION OF X-LINKED RECESSIVE INHERITANCE OF THE SYNDROME OF SHORT MALROTATED BOWEL, INTESTINAL PSEUDOOBSTRUCTION AND PATENT DUCTUS-ARTERIOSUS

      American journal of human genetics
    43. LEPPIG A; THULINE HC; PAGON RA; JACKY P; DISTECHE CM
      A 47,DEL(X)(P11.2P21),FRA(X),+R(X) KARYOTYPE IN A GIRL WITH DELANGE,CORNELI A SYNDROME

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/01/21 alle ore 23:44:19