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Results of search for 'au:"Sillence, D O"', page 3 of 4
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Authors
Ades, L C
Adès, L C
Ault, J
Ault, J E
Barlow, K K
Bateman, J F
Chan, D
Chiodo, A A
Cole, W G
Cowell, C T
Danks, D M
Eteson, D J
Garber, A P
Gedeon, A K
Kozlowski, K
Lachman, R S
Mulley, J C
Rimoin, D L
Ritchie, H E
Sillence, D O
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Topics
Abnormalities, Multiple
Adolescent
Adult
Bone and Bones
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Male
Osteochondrodysplasias
Osteogenesis Imperfecta
Pedigree
Radiography
Syndrome
abnormalities
classification
complications
genetics
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English
Your search returned 63 results.
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41.
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials.
[electronic resource]
by
Waters, K A
Everett, F
Sillence, D O
Fagan, E R
Sullivan, C E
Producer:
19960319
In:
American journal of medical genetics
vol. 59
Online resources:
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42.
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
[electronic resource]
by
Chan, D
Weng, Y M
Graham, H K
Sillence, D O
Bateman, J F
Producer:
19980423
In:
The Journal of clinical investigation
vol. 101
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43.
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
[electronic resource]
by
Gedeon, A K
Wilson, M J
Colley, A C
Sillence, D O
Mulley, J C
Producer:
19950823
In:
Journal of medical genetics
vol. 32
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44.
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity.
[electronic resource]
by
Sillence, D O
Barlow, K K
Garber, A P
Hall, J G
Rimoin, D L
Producer:
19840418
In:
American journal of medical genetics
vol. 17
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45.
The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.
[electronic resource]
by
Ogle, R
Sillence, D O
Merrick, A
Ell, J
Lo, B
Robson, L
Smith, A
Producer:
19970219
In:
American journal of medical genetics
vol. 65
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46.
Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea.
[electronic resource]
by
Waters, K A
Kirjavainen, T
Jimenez, M
Cowell, C T
Sillence, D O
Sullivan, C E
Producer:
19970206
In:
Pediatric research
vol. 39
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47.
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
[electronic resource]
by
Mundlos, S
Chan, D
Weng, Y M
Sillence, D O
Cole, W G
Bateman, J F
Producer:
19961010
In:
The Journal of biological chemistry
vol. 271
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48.
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.
[electronic resource]
by
Sillence, D O
Barlow, K K
Cole, W G
Dietrich, S
Garber, A P
Rimoin, D L
Producer:
19860403
In:
American journal of medical genetics
vol. 23
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49.
Atelosteogenesis: evidence for heterogeneity.
[electronic resource]
by
Sillence, D O
Kozlowski, K
Rogers, J G
Sprague, P L
Cullity, G J
Osborn, R A
Producer:
19870515
In:
Pediatric radiology
vol. 17
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50.
Spondylometepiphyseal dysplasia, Strudwick type.
[electronic resource]
by
Anderson, C E
Sillence, D O
Lachman, R S
Toomey, K
Bull, M
Dorst, J
Rimoin, D L
Producer:
19830225
In:
American journal of medical genetics
vol. 13
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51.
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease).
[electronic resource]
by
Dahlstrom, J E
Arbuckle, S M
Kozlowski, K
Peek, M J
Thomson, M
Reynolds, G J
Sillence, D O
Producer:
20020709
In:
Pathology
vol. 33
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52.
Cyclic bisphosphonate therapy in osteogenesis imperfecta type V.
[electronic resource]
by
Fleming, F
Woodhead, H J
Briody, J N
Hall, J
Cowell, C T
Ault, J
Kozlowski, K
Sillence, D O
Producer:
20050707
In:
Journal of paediatrics and child health
vol. 41
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53.
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.
[electronic resource]
by
Cameron, F J
Hageman, R M
Cooke-Yarborough, C
Kwok, C
Goodwin, L L
Sillence, D O
Sinclair, A H
Producer:
19970204
In:
Human molecular genetics
vol. 5
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54.
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
[electronic resource]
by
Sheffield, L J
Osborn, A H
Hutchison, W M
Sillence, D O
Forrest, S M
White, S J
Dahl, H H
Producer:
19990322
In:
Journal of medical genetics
vol. 35
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55.
Congenital macular colobomas and short-limb skeletal dysplasia.
[electronic resource]
by
Smith, R D
Fineman, R M
Sillence, D O
Lester, P D
Nixon, G W
Rimoin, D L
Lachman, R S
Producer:
19800923
In:
American journal of medical genetics
vol. 5
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56.
Synovial complications of spondylepiphyseal dysplasia of late onset.
[electronic resource]
by
Sambrook, P N
de Jager, J P
Champion, G D
Doust, B D
McGirr, E E
Kozlowski, K S
Sillence, D O
Producer:
19880411
In:
Arthritis and rheumatism
vol. 31
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57.
Unusual radiographic manifestations of chondrodysplasia punctata.
[electronic resource]
by
Lawrence, J J
Schlesinger, A E
Kozlowski, K
Poznanski, A K
Bacha, L
Dreyer, G L
Barylak, A
Sillence, D O
Rager, K
Producer:
19890526
In:
Skeletal radiology
vol. 18
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58.
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.
[electronic resource]
by
Alcausin, M B
Briody, J
Pacey, V
Ault, J
McQuade, M
Bridge, C
Engelbert, R H H
Sillence, D O
Munns, C F
Producer:
20140220
In:
Hormone research in paediatrics
vol. 79
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59.
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
[electronic resource]
by
Lamandé, S R
Chessler, S D
Golub, S B
Byers, P H
Chan, D
Cole, W G
Sillence, D O
Bateman, J F
Producer:
19950519
In:
The Journal of biological chemistry
vol. 270
Online resources:
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60.
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.
[electronic resource]
by
Adès, L C
Morris, L L
Power, R G
Wilson, M
Haan, E A
Bateman, J F
Milewicz, D M
Sillence, D O
Producer:
19951103
In:
American journal of medical genetics
vol. 57
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