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21 . Academic Journal
Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.
저자
by
Gisselsson, David
;
Chun bo Shao
;
Tuck-Muller, Cathy M.
;
Sogorovic, Suzana
;
Pålsson, Eva
, et al.
소스
Chromosoma
. Jul2005, Vol. 114 Issue 2, p118-126. 9p.
Full Text (Springer)
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27 . Academic Journal
Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities.
저자
by
Vissers, Lisenka E. L. M.
;
De Vries, Bert B. A.
;
Osoegawa, Kazutoyo
;
Janssen, Irene M.
;
Feuth, Ton
, et al.
소스
American Journal of Human Genetics
. Dec2003, Vol. 73 Issue 6, p1261-1270. 10p.
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27 . Academic Journal
Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH.
저자
by
Veltman, Joris A.
;
Jonkers, Yvonne
;
Nuijten, Inge
;
Janssen, Irene
;
van der Vliet, Walter
, et al.
소스
American Journal of Human Genetics
. Jun2003, Vol. 72 Issue 6, p1578. 7p.
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27 . Academic Journal
High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization.
저자
by
Veltman, Joris A.
;
Schoenmakers, Eric F.P.M.
;
Eussen, Bert H.
;
Janssen, Irene
;
Merkx, Gerard
, et al.
소스
American Journal of Human Genetics
. May2002, Vol. 70 Issue 5, p1269-1276. 8p. 1 Black and White Photograph, 1 Graph.
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27 . Academic Journal
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
저자
by
Kleefstra, Tjitske
;
van de Zande, Guillaume
;
Merkx, Gerard
;
Mieloo, Hanneke
;
Hoovers, Jan MN
, et al.
소스
European Journal of Human Genetics
. Aug2000, Vol. 8 Issue 8, p637. 4p.
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27 . Academic Journal
eP406 - Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples.
저자
by
Mantere, Tuomo
;
Neveling, Kornelia
;
Richard, Céline
;
Benoist, Marion
;
van der Zande, Guillaume
, et al.
소스
Molecular Genetics & Metabolism
. 2021 Supplement 1, Vol. 132, pS263-S263. 1p.
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27 . Academic Journal
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
저자
by
Ehrlich, Melanie
;
Buchanan, Kent L.
;
Tsien, Fern
;
Jiang, Guanchao
;
Sun, Baodong
, et al.
소스
Human Molecular Genetics
. Dec 01, 2001 10(25):2917-2931
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27 . Academic Journal
Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer.
저자
by
de Voer, Richarda M.
;
Geurts van Kessel, Ad
;
Weren, Robbert D.A.
;
Ligtenberg, Marjolijn J.L.
;
Smeets, Dominique
, et al.
소스
Gastroenterology (00165085); Sep2013, Vol. 145 Issue 3, p544-547, 4p
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27 . Academic Journal
Renal Cell Cancer: Chromosome 3 Translocations as Risk Factors
저자
by
van Kessel, Ad Geurts
;
Wijnhoven, Hanncke
;
Bodmer, Danielle
;
Eleveld, Marc
;
Kiemeney, Lambartus
, et al.
소스
Journal of the National Cancer Institute
. Jul 07, 1999 91(13):1159-1160
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27 . Academic Journal
A familial case of renal cell carcinoma and a t(2;3) chromosome translocation
저자
by
Koolen, Marianne I.
;
van der Meyden, Ad P.M.
;
Bodmer, Danielle
;
Eleveld, Marc
;
van der Looij, Erica
, et al.
소스
Kidney International
. Feb 01, 1998 53(2):273-275
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