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Results 1 to 25 of 443

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TRPV4-Associated Skeletal DysplasiasNISHIMURA, Gen; LAUSCH, Ekkehart; SAVARIRAYAN, Ravi et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 190-204, issn 1552-4868, 15 p.Article

Camurati-Engelmann disease: Review of radioclinical featuresVANHOENACKER, F. M; JANSSENS, K; VAN HUL, W et al.Acta radiologica (1987). 2003, Vol 44, Num 4, pp 430-434, issn 0284-1851, 5 p.Article

Sclerosing bone dysplasias with involvement of the craniofacial skeletonWATERVAL, J. J; BORRA, V. M; VAN HUL, W et al.Bone (New York, NY). 2014, Vol 60, pp 48-67, issn 8756-3282, 20 p.Article

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasiaSIMPSON, M. A; SCHEUERLE, A; HURST, J et al.Clinical genetics. 2009, Vol 75, Num 3, pp 271-276, issn 0009-9163, 6 p.Article

CONTRIBUTION A L'ETUDE RADIOLOGIQUE DU CHERUBINISME: A PROPOS DE 2 OBSERVATIONS, APPORT DE LA TOMODENSITOMETRIECAVEZIAN R; PASQUET G; FOLLIGUET M et al.1981; J. RADIOL.; ISSN 0242-3081; FRA; DA. 1981; VOL. 62; NO 6-7; PP. 373-376; ABS. ENG; BIBL. 11 REF.Article

UNE FORME DE MATURATION ACCELEREE DU SQUELETTE CHEZ LE NOUVEAU-NE. SYNDROME DE MARSHALL-SMITH.DELCOR Y.1977; MONTPELLIER; QUICK PRINT; DA. 1977; PP. 1-61; H.T. 8; BIBL. 5 P. 1/2; (THESE DOCT. MED.; MONTPELLIER)Thesis

MARSHALL-SMITH SYNDROME WITH LARGE BIFRONTAL DIAMETER, BROAD DISTAL FEMORA, CAMPTODACTLY, AND WITHOUT BROAD MIDDLE PHALANGESSHIMURA T; UTSUMI Y; FUJIKAWA S et al.1979; J. PEDIATR.; USA; DA. 1979; VOL. 94; NO 1; PP. 93-95; BIBL. 3 REF.Article

BRIEF CLINICAL REPORT: SKELETAL DYSPLASIA WITH SHORT ANGULATED FEMORA (KYPHOMELIC DYSPLASIA)MACLEAN RN; PRATER WK; LOZZIO CB et al.1983; AMERICAN JOURNAL OF MEDICAL GENETICS; ISSN 0148-7299; USA; DA. 1983; VOL. 14; NO 2; PP. 373-380; BIBL. 4 REF.Article

VERTEBRAL DYSPLASIA IN SALMONIDS CAUSED BY THE HERBICIDE TRIFLURALINWELLS DE; COWAN AA.1982; ENVIRON. POLLUT., SER. A, ECOL. BIOL.; ISSN 0143-1471; GBR; DA. 1982; VOL. 29; NO 4; PP. 249-260; BIBL. 18 REF.Article

PHARMACOKINETICS AND AMOUNTS OF 25-HYDROXYCHOLECALCIFEROL IN SHEEP AFFECTED BY OSTEODYSTROPHYHIDIROGLOU M; WILLIAMS CJ; IVAN M et al.1979; J. DAIRY SCI.; USA; DA. 1979; VOL. 62; NO 4; PP. 567-571; BIBL. 16 REF.Article

CONTRIBUTION A L'ETUDE DE LA SPONDYLOLYSE TRAUMATIQUE. ANALYSE DE 4619 DOSSIERS DE COLONNE LOMBOSACREE.RAYNAL L; COLLARD M; ELBANNA S et al.1977; ACTA ORTHOP. BELG.; BELG.; DA. 1977; VOL. 43; NO 5; PP. 653-659; ABS. ANGL.; BIBL. 35 REF.Article

Dysplasie crâniométaphysaire familiale associée à l'oligophréniePORTNOV, V. A; MARINCHEVA, G. S; GORBACHEVSKAYA, N. L et al.Žurnal nevropatologii i psihiatrii im. S.S. Korsakova. 1985, Vol 85, Num 3, pp 404-409, issn 0044-4588Article

Die Bedeutung der Sonographie bei der Untersuchung der Säuglingshüfte = Importance de l'ultrasonographie dans l'examen de la hanche de l'enfant = The importance of ultrasonography in the infant hip examinationGRAF, R.Biomedizinische Technik. 1983, Vol 28, Num 11, pp 257-263, issn 0013-5585Article

Slender Bone Dysplasia (Gracile)NYHOLM, Jessica L; LINDOR, Noralane M; THOMAS, Kristen B et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 24, pp 3234-3236, issn 1552-4825, 3 p.Article

A Phenotype Intermediate Between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDSTPANZER, K. M; LACHMAN, R; MODAFF, P et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 22, pp 2920-2924, issn 1552-4825, 5 p.Article

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasiaPRACHI PRAGYA AGARWAL; SRINIVASAN, Ashok; SHARMA, Raju et al.Pediatric radiology. 2003, Vol 33, Num 12, pp 893-896, issn 0301-0449, 4 p.Article

Atelosteogenesis type III : a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type IISTERN, H. J; GRAHAM, J. M; LACHMAN, R. S et al.American journal of medical genetics. 1990, Vol 36, Num 2, pp 183-195, issn 0148-7299, 13 p.Article

Severe Lateral Tibial Bowing With Short Stature in Two Siblings—A Provisionally Novel SyndromeZITANO, Lia; LODER, Randall T; COHEN, Mervyn D et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2309-2316, issn 1552-4825, 8 p.Article

Clinical and Radiologic Findings in an Adult Male With DysosteosclerosisLEMIRE, Edmond G; WIEBE, Sheldon.American journal of medical genetics. Part A. 2008, Vol 146, Num 4, pp 474-478, issn 1552-4825, 5 p.Article

Visceral manifestations of hypochondrogenesisWAINWRIGHT, Helen; BEIGHTON, Peter.Virchows Archiv. 2008, Vol 453, Num 2, pp 203-207, issn 0945-6317, 5 p.Article

Van Buchem disease: lifetime evolution of radioclinical featuresVANHOENACKER, Filip M; BALEMANS, Wendy; TAN, Gregorius J et al.Skeletal radiology. 2003, Vol 32, Num 12, pp 708-718, issn 0364-2348, 11 p.Article

Axial Spondylometaphyseal Dysplasia: Additional ReportsSUZUKI, Shigeru; KIM, Ok-Hwa; NISHINA, Sachiko et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 10, pp 2521-2528, issn 1552-4825, 8 p.Article

Osteosclerotic bone dysplasia in siblings with a Fam20C mutationFRADIN, M; STOETZEL, C; ZORRES, C et al.Clinical genetics. 2011, Vol 80, Num 2, pp 177-183, issn 0009-9163, 7 p.Article

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toesMARIK, Ivo; MARIKOVA, Olga; ZEMKOVA, Dana et al.Skeletal radiology. 2004, Vol 33, Num 3, pp 157-164, issn 0364-2348, 8 p.Article

Stüve-Wiedemann syndrome and related bent bone dysplasiasAKAWI, N. A; ALIA, B. R; AL-GAZALI, L et al.Clinical genetics. 2012, Vol 82, Num 1, pp 12-21, issn 0009-9163, 10 p.Article

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