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La ricerca find articoli where soggetti phrase all words 'FACIAL-DIGITAL SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
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    1. Guschmann, M; Horn, D; Entezami, M; Urban, M; Hanel, S; Kunze, J; Vogel, M
      Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings

      PRENATAL DIAGNOSIS
    2. Phadke, SR; Pahi, J; Pandey, A; Agarwal, SS
      Oral-Facial-Digital syndrome with acromelic short stature: a new variant -overlap with Ellis Van Creveld syndrome

      CLINICAL DYSMORPHOLOGY
    3. Perez-Oller, L; Torra, R; Coll, E; Cofan, F; Nicolau, C; Darnell, A
      Orofaciodigital syndrome type I with associated renal cysts presenting as chronic renal failure

      NEFROLOGIA
    4. Balci, S; Guler, G; Kale, G; Soylemezoglu, F; Besim, A
      Mohr syndrome in two sisters: Prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both

      PRENATAL DIAGNOSIS
    5. Shotelersuk, V; Tifft, CJ; Vacha, S; Peters, KF; Biesecker, LG
      Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Hsieh, YC; Hou, JW
      Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Fujiwara, I; Kondo, Y; Iinuma, K
      Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: A new variant?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Al-Gazali, LI; Sztriha, L; Punnose, J; Shather, W; Nork, M
      Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

      JOURNAL OF MEDICAL GENETICS
    9. DOSS BJ; JOLLY S; QURESHI F; JACQUES SM; EVANS MI; JOHNSON MP; LAMPINEN J; KUPSKY WJ
      NEUROPATHOLOGIC FINDINGS IN A CASE OF OFDS-TYPE-VI (VARADI-SYNDROME)

      American journal of medical genetics
    10. 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
    11. 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
    12. 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
    13. MAJEWSKI F; OZTURK B; GILLESSENKAESBACH G
      JEUNE SYNDROME WITH TONGUE LOBULATION AND PREAXIAL POLYDACTYLY, AND JEUNE SYNDROME WITH SITUS-INVERSUS AND ASPLENIA - COMPOUND HETEROZYGOSITY JEUNE-MOHR AND JEUNE-IVEMARK

      American journal of medical genetics
    14. DIGILIO MC; MARINO B; GIANNOTTI A; DALLAPICCOLA B
      OROCARDIODIGITAL SYNDROME - AN ORAL-FACIAL-DIGITAL TYPE-II VARIANT ASSOCIATED WITH ATRIOVENTRICULAR-CANAL

      Journal of Medical Genetics
    15. LEAO MJ; RIBEIROSILVA ML
      OROFACIODIGITAL SYNDROME TYPE-I IN A PATIENT WITH SEVERE CNS DEFECTS

      Pediatric neurology
    16. SHASHI V; CLARK P; ROGOL AD; WILSON WG
      ABSENT PITUITARY-GLAND IN 2 BROTHERS WITH AN ORAL-FACIAL-DIGITAL SYNDROME RESEMBLING OFDS-II AND OFDS-VI - A NEW-TYPE OF OFDS

      American journal of medical genetics
    17. PRPIC I; CEKADA S; FRANULOVIC J
      MOHR-SYNDROME (ORO-FACIAL-DIGITAL-SYNDROME-II) - A FAMILIAL CASE WITHDIFFERENT PHENOTYPIC FINDINGS

      Clinical genetics
    18. DIGILIO MC; GIANNOTTI A; PAGNOTTA G; MINGARELLI R; DALLAPICCOLA B
      JOINT DISLOCATION AND CEREBRAL ANOMALIES ARE CONSISTENTLY ASSOCIATED WITH ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV

      Clinical genetics
    19. WEY PD; NEIDICH JA; HOFFMAN LA; LATRENTA GS
      MIDLINE DEFECTS OF THE OROFACIODIGITAL-SYNDROME TYPE-VI (VARADI-SYNDROME)

      The Cleft palate-craniofacial journal
    20. WEY PD; NEIDICH JA; HOFFMAN LA; LATRENTA GS
      MIDLINE DEFECTS OF THE OROFACIODIGITAL-SYNDROME TYPE-VI (VARADI-SYNDROME)

      The Cleft palate-craniofacial journal
    21. BOLOGNIA JL; ORLOW SJ; GLICK SA
      LINES OF BLASCHKO

      Journal of the American Academy of Dermatology
    22. CHIARENZA FS; DALESSIO A; DEPASCALE S; CHELI M; GIARDINA C; ROTA G; SCHIEVANO D; LOCATELLI G
      DOUBLE ACCESSORY TONGUE

      Pediatric surgery international
    23. KAPUR RP; PAGON RA
      SHORT RIB (POLYDACTYLY) SYNDROME TYPE-IV - BEEMER-LANGER SYNDROME - REPLY

      American journal of medical genetics
    24. FIGUERA LE; RIVAS F; CANTU JM
      ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA - A NEW VARIANT

      Clinical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/10/20 alle ore 21:15:47