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Mutation-Based Growth Charts for SEDC and other COL2A1 Related DysplasiasTERHAL, Paulien A; VAN DOMMELEN, Paula; HENNEKAM, Raoul C. M et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 205-216, issn 1552-4868, 12 p.Article

ETUDE MORPHOLOGIQUE ET BIOCHIMIQUE DU CARTILAGE DE CROISSANCE DANS LES OSTEOCHONDRODYSPLASIES.STANESCU V; STANESCU R; MAROTEAUX P et al.1977; ARCH. FR. PEDIATR.; FR.; DA. 1977; VOL. 34; SUPPL. 1; PP. 1-77; BIBL. 3 P.Serial Issue

STICKLER'S SYNDROMENIELSEN CE.1981; ACTA OPHTHALMOL.; ISSN 0001-639X; DNK; DA. 1981; VOL. 59; NO 2; PP. 286-295; BIBL. 16 REF.Article

ANOMALIES DE CROISSANCE SQUELETTIQUE CHEZ 2 ENFANTS, DIAGNOSTIQUEES COMME POLYARTHRITE RHUMATOIDEBERKAN E.1977; REUMATOLOGIA; POLSKA; DA. 1977; VOL. 15; NO 1; PP. 83-89; ABS. ANGL. RUSSE; BIBL. 16 REF.Article

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable signMÄKITIE, Outi; SAVARIRAYAN, Ravi; BONAFE, Luisa et al.American journal of medical genetics. 2003, Vol 122A, Num 3, pp 187-192, issn 0148-7299, 6 p.Article

FINDINGS AT ARTHROTOMY IN A CASE OF DOUBLE LAYERED PATELLAE ASSOCIATED WITH MULTIPLE EPIPHYSEAL DYSPLASIADAHNERS LE; FRANCISCO WD; HALLERAN WJ et al.1982; J. PEDIATR. ORTHOP.; ISSN 0271-6798; USA; DA. 1982; VOL. 2; NO 1; PP. 67-70; BIBL. 9 REF.Article

THE STICKLER SYNDROME (HEREDITARY ARTHRO-OPHTHALMOPATHY).SAY B; BERRY J; BARBER N et al.1977; CLIN. GENET.; DENM.; DA. 1977; VOL. 12; NO 3; PP. 179-182; BIBL. 5 REF.Article

BEITRAG ZUR AETIOLOGIE DER ANGEBORENEN HUEFTGELENKSDYSPLASIE BZW.-LUXATION UND DER DYSPLASIA EPIPHYSEALIS CAPITIS FEMORIS = CONTRIBUTION A L'ETIOLOGIE DE LA DYSPLASIE ET DE LA LUXATION CONGENITALE DE LA HANCHE ET DE LA DYSPLASIE EPIPHYSAIRE DE LA TETE FEMORALEBATORY I.1982; Z. ORTHOP. IHRE GRENZGEB.; ISSN 0044-3220; DEU; DA. 1982; VOL. 120; NO 1; PP. 40-47; ABS. ENG; BIBL. 14 REF.Article

WAGNER'S VITREORETINAL DEGENERATION WITH GENERALIZED EPIPHYSEAL DYSPLASIAGODEL V; LAZAR M.1982; ACTA OPHTHALMOL.; ISSN 0001-639X; DNK; DA. 1982; VOL. 60; NO 3; PP. 469-474; BIBL. 18 REF.Article

THE WAGNER-STRICKLER SYNDROME: A STUDY OF 22 FAMILIESLIBERFARB RM; HIROSE T; HOLMES LB et al.1981; Y. PEDIATR.; ISSN 0022-3476; USA; DA. 1981; VOL. 99; NO 3; PP. 394-399; BIBL. 22 REF.Article

CONTRIBUTION A L'ETUDE DIAGNOSTIQUE ET THERAPEUTIQUE DES CHONDRODYSTROPHIES GENOTYPIQUES PAR L'ANALYSE DE DIX CAS FAMILIAUX DE DYSPLASIE POLY-EPIPHYSAIRE DOMINANTEDELAHAYE GERARD.sd; FRA; DA. S.D.; 144; 101 P.: ILL.; 30 CM; BIBL. 94 REF.; TH.: MED./TOURS/1978Thesis

MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDYGIBSON T; HIGHTON J.1979; RHEUMATOL. AND REHABILIT.; GBR; DA. 1979; VOL. 18; NO 4; PP. 239-242; H.T. 1; BIBL. 8 REF.Article

NEW" DWARFING SYNDROMES.SPRANGER J.1977; BIRTH DEFECTS ORIGIN. ARTICLE SER.; U.S.A.; DA. 1977; VOL. 13; NO 3B; PP. 11-29; BIBL. 1 P. 1/2Article

LE RHUMATISME CHONDRODYSPLASIQUE.KAHN MF; JURMAND SH; BOURGEOIS P et al.1977; ANN. MED. INTERNE; FR.; DA. 1977; VOL. 128; NO 11; PP. 857-860; BIBL. 7 REF.Article

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndromeKANNU, Peter; OEI, Paul; SLATER, Howard R et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 18, pp 1955-1959, issn 1552-4825, 5 p.Article

Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutationsMABUCHI, Akihiko; MOMOHARA, Shigeki; OHASHI, Hirofumi et al.American journal of medical genetics. 2004, Vol 129A, Num 1, pp 35-38, issn 0148-7299, 4 p.Article

A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal DysplasiaBEDOYAN, Jirair K; LESPERANCE, Marci M; ACKLEY, Todd et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 1, pp 154-163, issn 1552-4825, 10 p.Article

Hemiepiphyseal Stapling for Angular Deformity Correction Around the Knee Joint in Children With Multiple Epiphyseal DysplasiaCHO, Tae-Joon; IN HO CHOI; CHIN YOUB CHUNG et al.Journal of pediatric orthopedics. 2009, Vol 29, Num 1, pp 52-56, issn 0271-6798, 5 p.Article

Expanded Clinical Spectrum of Spondylocarpotarsal Synostosis Syndrome and Possible Manifestation in a Heterozygous FatherMINER, Diana; KRAKOW, Deborah; FARRINGTON-ROCK, Claire et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 6, pp 779-783, issn 1552-4825, 5 p.Article

Impairment and activity limitation associated with epiphyseal dysplasia in childrenDAMIGNANI, Rita; YOUNG, Nancy L; COLE, William G et al.Archives of physical medicine and rehabilitation. 2004, Vol 85, Num 10, pp 1647-1652, issn 0003-9993, 6 p.Article

Case 95 : Fracture of double-layered patella in multiple epiphyseal dysplasiaRUBENSTEIN, Joel D; CHRISTAKIS, Monique S.Radiology. 2006, Vol 239, Num 3, pp 911-913, issn 0033-8419, 3 p.Article

Epiphyseal disordersSHAPIRO, F.The New England journal of medicine. 1987, Vol 317, Num 27, pp 1702-1710, issn 0028-4793Article

Epífisis punteadas. Diez claves para el diagnóstico = Epiphyseal dysplasia with punctate calcifications. Ten diagnostic cluesESTEBAN RICOS, M. J; VALLCANERA CALATAYUD, A; ANDRES LOZANO, V et al.Radiología (Madrid). 1994, Vol 36, Num 1, pp 25-33, issn 0033-8338Article

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese populationBARBOSA, M; SOUSA, B; REIS-LIMA, M et al.Clinical genetics. 2011, Vol 80, Num 6, pp 550-557, issn 0009-9163, 8 p.Article

Multiple Joint Dislocations : An Additional Skeletal Finding in Lowry-Wood Syndrome?MAGNANI, Cinzia; TEDESCO, Salvatore Antonio; DALLAGLIO, Sara et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 4, pp 737-741, issn 1552-4825, 5 p.Article

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