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La ricerca find articoli where authors phrase all words 'FRYBURG JS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. FURUKAWA Y; KISH SJ; BEBIN EM; JACOBSON RD; FRYBURG JS; WILSON WG; SHIMADZU M; HYLAND K; TRUGMAN JM
      DYSTONIA WITH MOTOR DELAY IN COMPOUND HETEROZYGOTES FOR GTP-CYCLOHYDROLASE-I GENE-MUTATIONS

      Annals of neurology
    2. Mullins, DA; Abel, MF; Blanco, JS; Fryburg, JS
      Familial synspondylism: Progressive scoliosis and multiple hernias in a kinship

      JOURNAL OF PEDIATRIC ORTHOPAEDICS
    3. HYLAND K; FRYBURG JS; WILSON WG; BEBIN EM; ARNOLD LA; GUNASEKERA RS; JACOBSON RD; ROSTRUFFNER E; TRUGMAN JM
      ORAL PHENYLALANINE LOADING IN DOPA-RESPONSIVE DYSTONIA - A POSSIBLE DIAGNOSTIC-TEST

      Neurology
    4. FRYBURG JS; LIN KY; MATSUMOTO J
      ABNORMAL HEAD MRI IN A NEUROLOGICALLY NORMAL BOY WITH HYPOMELANOSIS OF ITO

      American journal of medical genetics
    5. FRYBURG JS; KELLY TE
      CHONDRODYSPLASIA PUNCTATA, HUMERO-METACARPAL TYPE - A 2ND CASE

      American journal of medical genetics
    6. FRYBURG JS; LIN KY; GOLDEN WL
      CHROMOSOME 22Q11.2 DELETION IN A BOY WITH OPITZ (G BBB) SYNDROME/

      American journal of medical genetics
    7. HYLAND K; TRUGMAN JM; ROSTRUFFNER E; FRYBURG JS; WILSON WG; GUNASEKERA RS; ARNOLD L
      ABNORMAL PHENYLALANINE METABOLISM IN DOPA-RESPONSIVE DYSTONIA - A POSSIBLE DIAGNOSTIC-TEST

      Neurology
    8. FRYBURG JS; SIDHUMALIK N
      LONG-TERM FOLLOW-UP OF CUTANEOUS CHANGES IN SIBLINGS WITH MANDIBULOACRAL DYSPLASIA WHO WERE ORIGINALLY CONSIDERED TO HAVE HEREDITARY SCLEROSING POIKILODERMA

      Journal of the American Academy of Dermatology
    9. FRYBURG JS; HWANG V; LIN KY
      RECURRENT LAMBDOID SYNOSTOSIS WITHIN 2 FAMILIES

      American journal of medical genetics
    10. BEBIN EM; FRYBURG JS; TRUGMAN JM
      DOPA-RESPONSIVE DYSTONIA (DRD) PRESENTING IN THE 1ST YEAR OF LIFE

      Neurology
    11. SHASHI V; ZUNICH J; KELLY TE; FRYBURG JS
      NEUROECTODERMAL (CHIME) SYNDROME - AN ADDITIONAL CASE WITH LONG-TERM FOLLOW-UP OF ALL REPORTED CASES

      Journal of Medical Genetics
    12. SHASHI V; FRYBURG JS
      VASCULAR RING LEADING TO TRACHEOESOPHAGEAL COMPRESSION IN A PATIENT WITH RUBINSTEIN-TAYBI SYNDROME

      Clinical genetics
    13. THEDA C; PARK WJ; MAESTRI NE; MEYERS GA; FRYBURG JS; DUFRESNE C; COHEN MM; JABS EW
      PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME

      American journal of human genetics
    14. FRYBURG JS; TRUGMAN JM; WILSON WG; HYLAND K
      PERIPHERAL BIOPTERIN DEFECT IN DOPA-RESPONSIVE DYSTONIA DEMONSTRATED WITH A PHENYLALANINE LOAD TEST

      American journal of human genetics
    15. PARK WJ; THEDA C; MAESTRI NE; MEYERS GA; FRYBURG JS; DUFRESNE C; COHEN MM; JABS EW
      ANALYSIS OF PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME

      American journal of human genetics
    16. FRYBURG JS; PELEGANO JP; BENNETT MJ; BEBIN EM
      LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME

      American journal of medical genetics
    17. SHASHI V; GOLDEN WL; FRYBURG JS
      CHOANAL ATRESIA IN A PATIENT WITH THE DELETION (9P) SYNDROME

      American journal of medical genetics
    18. BEBIN EM; PELEGANO JP; FRYBURG JS
      LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN BANNAYAN-RILEY-RUVALCABA SYNDROME (BRRS)

      Neurology
    19. FRYBURG JS
      MOSAICISM IN CHORIONIC VILLUS SAMPLING

      Obstetrics and gynecology clinics of North America
    20. FRYBURG JS; DIMAIO MS; YANGFENG TL; MAHONEY MJ
      FOLLOW-UP OF PREGNANCIES COMPLICATED BY PLACENTAL MOSAICISM DIAGNOSEDBY CHORIONIC VILLUS SAMPLING

      Prenatal diagnosis
    21. FRYBURG JS; PERSING JA; LIN KY
      FRONTONASAL DYSPLASIA IN 2 SUCCESSIVE GENERATIONS

      American journal of medical genetics
    22. FRYBURG JS; GREER KE
      EPIDERMAL NEVI AND BULLOUS APLASIA-CUTIS-CONGENITA IN A NEONATE

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/10/20 alle ore 05:35:14