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8401.
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8402.
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8403.
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8404.
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. [electronic resource] by
- Yan, J
- Zhang, F
- Brundage, E
- Scheuerle, A
- Lanpher, B
- Erickson, R P
- Powis, Z
- Robinson, H B
- Trapane, P L
- Stachiw-Hietpas, D
- Keppler-Noreuil, K M
- Lalani, S R
- Sahoo, T
- Chinault, A C
- Patel, A
- Cheung, S W
- Lupski, J R
Producer: 20091231
In:
Journal of medical genetics vol. 46
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8405.
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Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy. [electronic resource] by
- Hung, Chia-Cheng
- Chen, Chih-Ping
- Lin, Shuan-Pei
- Chien, Shu-Chin
- Lee, Chien-Nan
- Cheng, Wen-Fang
- Hsieh, Wu-Shiun
- Liu, Ming S
- Su, Yi-Ning
- Lin, Win-Li
Producer: 20070202
In:
Clinical chemistry vol. 52
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8406.
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8407.
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8408.
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Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. [electronic resource] by
- Solomon, Nicola M
- Ross, Shelley A
- Forrest, Susan M
- Thomas, Paul Q
- Morgan, Thomas
- Belsky, Joseph L
- Hol, Frans A
- Karnes, Pamela S
- Hopwood, Nancy J
- Myers, Susan E
- Tan, Anjanette S
- Warne, Garry L
Producer: 20070514
In:
Journal of medical genetics vol. 44
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8409.
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8410.
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Evidence for involvement of GNB1L in autism. [electronic resource] by
- Chen, Ying-Zhang
- Matsushita, Mark
- Girirajan, Santhosh
- Lisowski, Mark
- Sun, Elizabeth
- Sul, Youngmee
- Bernier, Raphael
- Estes, Annette
- Dawson, Geraldine
- Minshew, Nancy
- Shellenberg, Gerard D
- Eichler, Evan E
- Rieder, Mark J
- Nickerson, Deborah A
- Tsuang, Debby W
- Tsuang, Ming T
- Wijsman, Ellen M
- Raskind, Wendy H
- Brkanac, Zoran
Producer: 20120419
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 159B
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8411.
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8412.
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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. [electronic resource] by
- Schuster, Jens
- Sundblom, Jimmy
- Thuresson, Ann-Charlotte
- Hassin-Baer, Sharon
- Klopstock, Thomas
- Dichgans, Martin
- Cohen, Oren S
- Raininko, Raili
- Melberg, Atle
- Dahl, Niklas
Producer: 20110506
In:
Neurogenetics vol. 12
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8413.
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8414.
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8415.
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Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease. [electronic resource] by
- Deas, Emma
- Cremades, Nunilo
- Angelova, Plamena R
- Ludtmann, Marthe H R
- Yao, Zhi
- Chen, Serene
- Horrocks, Mathew H
- Banushi, Blerida
- Little, Daniel
- Devine, Michael J
- Gissen, Paul
- Klenerman, David
- Dobson, Christopher M
- Wood, Nicholas W
- Gandhi, Sonia
- Abramov, Andrey Y
Producer: 20161213
In:
Antioxidants & redox signaling vol. 24
Availability: No items available.
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8416.
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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. [electronic resource] by
- Adamo, Antonio
- Atashpaz, Sina
- Germain, Pierre-Luc
- Zanella, Matteo
- D'Agostino, Giuseppe
- Albertin, Veronica
- Chenoweth, Josh
- Micale, Lucia
- Fusco, Carmela
- Unger, Christian
- Augello, Bartolomeo
- Palumbo, Orazio
- Hamilton, Brad
- Carella, Massimo
- Donti, Emilio
- Pruneri, Giancarlo
- Selicorni, Angelo
- Biamino, Elisa
- Prontera, Paolo
- McKay, Ronald
- Merla, Giuseppe
- Testa, Giuseppe
Producer: 20150414
In:
Nature genetics vol. 47
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8417.
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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. [electronic resource] by
- Fieremans, Nathalie
- Bauters, Marijke
- Belet, Stefanie
- Verbeeck, Jelle
- Jansen, Anna C
- Seneca, Sara
- Roelens, Filip
- De Baere, Elfride
- Marynen, Peter
- Froyen, Guy
Producer: 20141203
In:
Human genetics vol. 133
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8418.
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Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis. [electronic resource] by
- Hardwick, Robert J
- Ménard, Anne
- Sironi, Manuela
- Milet, Jacqueline
- Garcia, André
- Sese, Claude
- Yang, Fengtang
- Fu, Beiyuan
- Courtin, David
- Hollox, Edward J
Producer: 20140228
In:
Human genetics vol. 133
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8419.
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8420.
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