Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'X-LINKED DOMINANT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 29 riferimenti
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    1. Shastry, BS
      Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

      JOURNAL OF HUMAN GENETICS
    2. Traupe, H; Has, C
      The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a Delta 8-Delta 7 sterol isomerase and is biochemically relatedto the CHILD syndrome

      EUROPEAN JOURNAL OF DERMATOLOGY
    3. Bacino, CA; Stockton, DW; Sierra, RA; Heilstedt, HA; Lewandowski, R; Van den Veyver, IB
      Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Manouvrier, S; Moerman, A; Coeslier, A; Devisme, L; Boute, O; Le Merrer, M
      Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Goizet, C; Bonneau, D; Lacombe, D
      W syndrome: Report of three cases and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Nevin, NC; Leonard, AG; Jones, B
      Frontonasal dysostosis in two successive generations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Balci, S; Caglar, K; Eryilmaz, M
      Diastematomyelia in two sisters

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Schulze, BRB; Horn, D; Kobelt, A; Tariverdian, G; Stellzig, A
      Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: Three new cases and review of nine patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. WILSON CJ; AFTIMOS S
      BRIEF CLINICAL REPORT - X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA -A PEROXISOMAL DISORDER

      American journal of medical genetics
    10. ROBERTS JL; MORROW B; VEGARICH C; SALAFIA CM; NITOWSKY HM
      INCONTINENTIA PIGMENTI IN A NEWBORN MALE INFANT WITH DNA CONFIRMATION

      American journal of medical genetics
    11. BUENO AL; RAMOS FJ; BUENO O; OLIVARES JL; BELLO ML; BUENO M
      SEVERE MALFORMATIONS IN MALES FROM FAMILIES WITH OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS

      Clinical genetics
    12. COURTENS W; PERLMUTTER N; DAN B; VAMOS E
      NEW SYNDROME OR SEVERE EXPRESSION OF GORDON SYNDROME - A CASE-REPORT

      Clinical dysmorphology
    13. FEATHER SA; WINYARD PJD; DODD S; WOOLF AS
      ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 IS ANOTHER DOMINANT POLYCYSTIC KIDNEY-DISEASE - CLINICAL, RADIOLOGICAL AND HISTOPATHOLOGICAL FEATURES OF A NEW KINDRED

      Nephrology, dialysis, transplantation
    14. SCOLARI F; VALZORIO B; CARLI O; VIZZARDI V; COSTANTINO E; GRAZIOLI L; BONDIONI MP; SAVOLDI S; MAIORCA R
      ORAL-FACIAL-DIGITAL SYNDROME TYPE-I - AN UNUSUAL CAUSE OF HEREDITARY CYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    15. COLL E; TORRA R; PASCUAL J; BOTEY A; ARA J; PEREZ L; BALLESTA F; DARNELL A
      SPORADIC OROFACIODIGITAL SYNDROME TYPE-I PRESENTING AS END-STAGE RENAL-DISEASE

      Nephrology, dialysis, transplantation
    16. FRANCIS JS; SYBERT VP
      INCONTINENTIA PIGMENTI

      Seminars in cutaneous medicine and surgery
    17. GORLIN RJ; MARASHI AH; OBWEGESER HL
      OCULO-FACIO-CARDIO-DENTAL (OFCD) SYNDROME

      American journal of medical genetics
    18. HAPPLE R; EFFENDY I; MEGAHED M; ORLOW SJ; KUSTER W
      CHILD SYNDROME IN A BOY

      American journal of medical genetics
    19. MUCKE J; HOEPFFNER W; THAMM B; THEILE H
      MIDAS SYNDROME (MICROPHTHALMIA, DERMAL APLASIA AND SCLEROCORNEA) - ANAUTONOMOUS ENTITY WITH LINEAR SKIN DEFECTS WITHIN THE SPECTRUM OF FOCAL HYPOPLASIAS

      EJD. European journal of dermatology
    20. GOBELLO T; MAZZANTI C; FILECCIA P; DIDONA B; PAPI M; ATZORI F; CAVALIERI R
      X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME) WITH UNCOMMON SYMMETRICAL SHORTENING OF THE TUBULAR BONES

      Dermatology
    21. HAPPLE R; MITTAG H; KUSTER W
      THE CHILD NEVUS - A DISTINCT SKIN DISORDER

      Dermatology
    22. LEGUERN E; RAVISE N; GUGENHEIM M; VIGNAL A; PENET C; BOUCHE P; WEISSENBACH J; AGID Y; BRICE A
      LINKAGE ANALYSES BETWEEN DOMINANT X-LINKED CHARCOT-MARIE-TOOTH-DISEASE, AND 15 XQ11-XQ21 MICROSATELLITES IN A NEW LARGE FAMILY - 3 NEW MARKERS ARE CLOSELY LINKED TO THE GENE

      Neuromuscular disorders
    23. PARVARI R; WEINSTEIN Y; EHRLICH S; STEINITZ M; CARMI R
      LINKAGE LOCALIZATION OF THE THORACOABDOMINAL SYNDROME (TAS) GENE TO XQ25-26

      American journal of medical genetics
    24. WOLLINA U; VOGEL H
      X-CHROMOSOMAL DOMINANT CHONDROPLASIA-PUNC TATA (HAPPLE SYNDROME) - LYONIZATION OF THE EYELASHES

      Hautarzt
    25. CHUGH KS; SAKHUJA V; AGARWAL A; JHA V; JOSHI K; DATTA BN; GUPTA A; GUPTA KL
      HEREDITARY NEPHRITIS (ALPORTS-SYNDROME) - CLINICAL PROFILE AND INHERITANCE IN 28 KINDREDS

      Nephrology, dialysis, transplantation
    26. WINTER RM
      DISTINCTIVE AUTOSOMAL OR X-LINKED DOMINANT SYNDROME OF MICROCEPHALY, MILD DEVELOPMENTAL DELAY, SHORT STATURE, AND DISTINCTIVE FACE

      American journal of medical genetics
    27. FRYBURG JS; PERSING JA; LIN KY
      FRONTONASAL DYSPLASIA IN 2 SUCCESSIVE GENERATIONS

      American journal of medical genetics
    28. MARION RW; GARCIA DM; KARASIK JB
      APPARENT DOMINANT TRANSMISSION OF THE RUBINSTEIN-TAYBI SYNDROME

      American journal of medical genetics
    29. GILLEROT Y; HEIMANN M; FOURNEAU C; VERELLENDUMOULIN C; VANMALDERGEM L
      ORAL-FACIAL-DIGITAL SYNDROME TYPE-I IN A NEWBORN MALE

      American journal of medical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/21 alle ore 04:47:30