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21 . Academic Journal
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
저자
by
Dincer, P
;
Balci, B
;
Yuva, Y
;
Talim, B
;
Brockington, M
, et al.
소스
NEUROMUSCULAR DISORDERS
; DEC 2003, 13 10, p771-p778, 8p.
Full Text (ScienceDirect)
Scopus
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27 . Academic Journal
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
저자
by
Longman, C
;
Brockington, M
;
Torelli, S
;
Jimenez-Mallebrera, C
;
Kennedy, C
, et al.
소스
HUMAN MOLECULAR GENETICS
; NOV 1 2003, 12 21, p2853-p2861, 9p.
Full Text (OUP)
Full Text (OUP Near Archive)
Scopus
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27 . Academic Journal
Craniosynostosis associated with intracranial calcification: a novel recessive syndrome
저자
by
Longman, C
;
Whiteford, M
;
Koppel, D
;
Donaldson, M
;
Paterson, W
, et al.
소스
CLINICAL DYSMORPHOLOGY
; OCT 2003, 12 4, p215-p220, 6p.
Full Text (LWW)
Scopus
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27 . Academic Journal
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome
저자
by
Longman, C
;
Tolmie, J
;
McWilliam, R
;
MacLennan, A
.
소스
CLINICAL DYSMORPHOLOGY
; APR 2003, 12 2, p133-p136, 4p.
Full Text (LWW)
Scopus
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26 . Academic Journal
Sketetal muscle involvement in infantile systemic hyalinosis
저자
by
Zolkipli, Z
;
Longman, C
;
Brown, S
;
Rahman, N
;
Holder, SE
, et al.
소스
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
; 2003, 7 6, p401-p406, 6p.
Full Text (ScienceDirect)
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27 . Academic Journal
Non-progressive mental retardation and peripheral neuropathy in a mother and her son
저자
by
Longman, C
;
Tolmie, J
;
McWilliam, R
.
소스
CLINICAL DYSMORPHOLOGY
; OCT 2001, 10 4, p273-p276, 4p.
Full Text (LWW)
Scopus
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25 . Academic Journal
Muscle fibrillin deficiency associated with Marfan's syndrome myopathy.
저자
by
Behan, W. M. H
;
Longman, C
;
Petty, R. K. H
;
Boxer, M
;
Foskett, P
, et al.
소스
Neuropathology & Applied Neurobiology
. Apr2002, Vol. 28 Issue 2, p155-155. 1p.
Web of Science
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27 . Academic Journal
Cranial magnetic resonance images in familial PEHO-like syndrome misleadingly suggest prenatal ischaemia
저자
by
Longman, C
;
Tolmie, J
;
McWilliam, R
;
McLennan, A
.
소스
JOURNAL OF MEDICAL GENETICS
; SEP 2001, 38 pS33-pS33, 1p. Supplement: 1
Full Text (BMJ Journals)
Scopus
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26 . Academic Journal
Something for nothing: the West of Scotland database of families with structural chromosome abnormalities.
저자
by
Joss, S
;
Longman, C
;
Begum, F
;
Morrison, R
;
Colgan, J
, et al.
소스
JOURNAL OF MEDICAL GENETICS
; SEP 2001, 38 pS32-pS32, 1p. Supplement: 1
Full Text (BMJ Journals)
Scopus
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27 . Academic Journal
Fibrillin deficiency in skeletal muscle in Marfan's syndrome
저자
by
Behan, WMH
;
Longman, C
;
Petty, RK
;
Patel, KR
;
Marshall, DAS
.
소스
JOURNAL OF PATHOLOGY
; MAR 2001, 193 p42A-p42A, 1p. Supplement: S
Full Text (Wiley)
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