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1 . Academic Journal
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
저자
by
Kuʼ, C S
;
Polychronakos, C
;
Tan, E K
;
Naidoo, N
;
Pawitan, Y
, et al.
소스
Molecular Psychiatry
. Feb 01, 2013 18(2):141-153
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7 . Academic Journal
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
저자
by
Ku, C S
;
Polychronakos, C
;
Tan, E K
;
Naidoo, N
;
Pawitan, Y
, et al.
소스
Molecular Psychiatry
. Feb2013, Vol. 18 Issue 2, p141-153. 13p. 2 Diagrams, 3 Charts.
Web of Science
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7 . Academic Journal
Revealing the human mutome
저자
by
Chen, J M
;
Férec, C
;
Cooper, D N
.
소스
Clinical Genetics
. Oct 01, 2010 78(4):310-320
Web of Science
Scopus
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5 . Academic Journal
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
저자
by
Mautner, V-F
;
Kluwe, L
;
Friedrich, R E
;
Roehl, A C
;
Bammert, S
, et al.
소스
Journal of Medical Genetics
. Sep 01, 2010 47(9):623-630
Full Text (BMJ Journals)
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7 . Academic Journal
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
저자
by
Lemmers, R J L F
;
Osborn, M
;
Haaf, T
;
Rogers, M
;
Frants, R R
, et al.
소스
Neurology; 2003 Jul 22, Vol. 61 Issue 2, p178-183, 6p
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7 . Academic Journal
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
저자
by
Kehrer-Sawatzki, H
;
Cooper, D N
.
소스
Journal of Medical Genetics
. Oct 01, 2008 45(10):622-631
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4 . Academic Journal
Human Gene Mutation Database: towards a comprehensive central mutation database
저자
by
Stenson, P D
;
Ball, E
;
Howells, K
;
Phillips, A
;
Mort, M
, et al.
소스
Journal of Medical Genetics
. Feb 01, 2008 45(2):124-126
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7 . Academic Journal
Disease-causing mutations in the human genome.
저자
by
Antonarakis, S E
;
Krawczak, M
;
Cooper, D N
.
소스
European Journal of Pediatrics
. 2000, Vol. 159 Issue 13, pS173-S178. 6p.
Full Text (Springer)
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5 . Academic Journal
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
저자
by
Archer, H L
;
Whatley, S D
;
Evans, J C
;
Ravine, D
;
Huppke, P
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. May 01, 2006 43(5):451-456
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7 . Academic Journal
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
저자
by
Castle, B
;
Baser, M E
;
Huson, S M
;
Cooper, D N
;
Upadhyaya, M
.
소스
JOURNAL OF MEDICAL GENETICS
. Oct 01, 2003 40(10):e109-e109
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