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31 . Academic Journal
UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene
저자
by
Wake, Naomi C.
;
Ricketts, Christopher J.
;
Morris, Mark R.
;
Prigmore, Elena
;
Gribble, Susan M.
, et al.
소스
Human Mutation
. Dec 01, 2013 34(12):1650-1661
Web of Science
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37 . Academic Journal
UBE2 QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene.
저자
by
Wake, Naomi C.
;
Ricketts, Christopher J.
;
Morris, Mark R.
;
Prigmore, Elena
;
Gribble, Susan M.
, et al.
소스
Human Mutation; Dec2013, Vol. 34 Issue 12, p1650-1661, 12p
Web of Science
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37 . Academic Journal
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
저자
by
Wright, Caroline F.
;
McRae, Jeremy F.
;
Clayton, Stephen
;
Gallone, Giuseppe
;
Aitken, Stuart
, et al.
소스
GENETICS IN MEDICINE
; OCT 2018, 20 10, p1216-p1223, 8p.
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37 . Academic Journal
Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome.
저자
by
Gribble, Susan M.
;
Wiseman, Frances K.
;
Clayton, Stephen
;
Prigmore, Elena
;
Langley, Elizabeth
, et al.
소스
PLoS ONE
. Apr2013, Vol. 8 Issue 4, p1-10. 10p.
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37 . Academic Journal
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
저자
by
Freitas, Érika L.
;
Gribble, Susan M.
;
Simioni, Milena
;
Vieira, Társis P.
;
Silva-Grecco, Roseane L.
, et al.
소스
American Journal Of Medical Genetics - A
. Nov 01, 2011 155(11):2754-2761
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37 . Academic Journal
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
저자
by
Pinto, Dalila
;
Darvishi, Katayoon
;
Xinghua Shi
;
Rajan, Diana
;
Rigler, Diane
, et al.
소스
Nature Biotechnology
. Jun2011, Vol. 29 Issue 6, p512-520. 9p. 2 Charts, 4 Graphs.
Full Text (Nature)
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37 . Academic Journal
Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort.
저자
by
Baptista, Julia
;
Mercer, Catherine
;
Prigmore, Elena
;
Gribble, Susan M.
;
Carter, Nigel P.
, et al.
소스
American Journal of Human Genetics
. Apr2008, Vol. 82 Issue 4, p927-936. 10p. 6 Charts.
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37 . Academic Journal
Characterization of a 3;6 translocation associated with renal cell carcinoma.
저자
by
Foster, Rebecca E.
;
Abdulrahman, Mahera
;
Morris, Mark R.
;
Prigmore, Elena
;
Gribble, Susan
, et al.
소스
Genes, Chromosomes & Cancer; Apr2007, Vol. 46 Issue 4, p311-317, 7p
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37 . Academic Journal
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
저자
by
Shaw-Smith, Charles
;
Pittman, Alan M
;
Willatt, Lionel
;
Martin, Howard
;
Rickman, Lisa
, et al.
소스
Nature Genetics
. Sep2006, Vol. 38 Issue 9, p1032-1037. 6p. 1 Color Photograph, 2 Diagrams, 1 Chart.
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37 . Academic Journal
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
저자
by
Baptista, Julia
;
Prigmore, Elena
;
Gribble, Susan M.
;
Jacobs, Patricia A.
;
Carter, Nigel P.
, et al.
소스
European Journal of Human Genetics
. Nov2005, Vol. 13 Issue 11, p1205-1212. 8p. 1 Diagram, 2 Charts.
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