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21 . Academic Journal
The ophthalmic findings in Cohen syndrome
저자
by
Chandler, K E
;
Biswas, S
;
Lloyd, I C
;
Parry, N
;
Clayton-Smith, J
, et al.
소스
British Journal of Ophthalmology
. Dec 01, 2002 86(12):1395-1398
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27 . Academic Journal
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).
저자
by
Black, G C
;
Perveen, R
;
Hatchwell, E
;
Reck, A
;
Clayton-Smith, J
.
소스
Journal of Medical Genetics; Dec1998, Vol. 35 Issue 12, p985-988, 4p, 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph
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27 . Academic Journal
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
저자
by
Clayton-Smith, J
;
Watson, P
;
Ramsden, S
;
Black, G C M
.
소스
The Lancet
. Sep 02, 2000 356(9232):830-832
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26 . Academic Journal
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
저자
by
Slavotinek, A
;
Rosenberg, M
;
Knight, S
;
Gaunt, L
;
Fergusson, W
, et al.
소스
Journal of Medical Genetics
. May 01, 1999 36(5):405-411
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27 . Academic Journal
Uniparental paternal disomy in Angelman's syndrome.
저자
by
Malcolm, S
;
Clayton-Smith, J
;
Nichols, M
;
Robb, S
;
Webb, T
, et al.
소스
Lancet
. 3/23/1991, Vol. 337 Issue 8743, p694-697. 4p.
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27 . Academic Journal
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
저자
by
Ryan, A K
;
Goodship, J A
;
Wilson, D I
;
Philip, N
;
Levy, A
, et al.
소스
Journal of Medical Genetics; Oct1997, Vol. 34 Issue 10, p798-804, 7p, 1 Black and White Photograph, 7 Charts
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27 . Academic Journal
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
저자
by
Lindsay, S
;
Ireland, M
;
O'Brien, O
;
Clayton-Smith, J
;
Hurst, J A
, et al.
소스
Journal of Medical Genetics; Jun1997, Vol. 34 Issue 6, p480-483, 4p, 3 Black and White Photographs, 1 Chart
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27 . Academic Journal
Fetal valproate syndrome.
저자
by
Clayton-Smith, J
;
Donnai, D
.
소스
Journal of Medical Genetics; Sep1995, Vol. 32 Issue 9, p724-727, 4p, 1 Black and White Photograph, 1 Chart
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24 . Academic Journal
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
저자
by
Chan, C T
;
Clayton-Smith, J
;
Cheng, X J
;
Buxton, J
;
Webb, T
, et al.
소스
Journal of Medical Genetics; Nov1993, Vol. 30 Issue 11, p895-902, 8p, 3 Diagrams
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27 . Academic Journal
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
저자
by
Webb, T
;
Clayton-Smith, J
;
Cheng, X J
;
Knoll, J H
;
Lalande, M
, et al.
소스
Journal of Medical Genetics; Dec1992, Vol. 29 Issue 12, p921-924, 4p
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