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Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). [electronic resource] by
- Saitsu, Hirotomo
- Osaka, Hitoshi
- Sugiyama, Shirou
- Kurosawa, Kenji
- Mizuguchi, Takeshi
- Nishiyama, Kiyomi
- Nishimura, Akira
- Tsurusaki, Yoshinori
- Doi, Hiroshi
- Miyake, Noriko
- Harada, Naoki
- Kato, Mitsuhiro
- Matsumoto, Naomichi
Producer: 20130620
In:
American journal of medical genetics. Part A vol. 158A
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Rapid detection of Down's syndrome using quantitative real-time PCR (qPCR) targeting segmental duplications on chromosomes 21 and 11. [electronic resource] by
- Sun, Lei
- Fan, Zuqian
- Weng, Xunjin
- Ye, Xuehe
- Long, Ju
- Fu, Kepeng
- Yan, Shanhuo
- Wang, Bo
- Zhuo, Yongguang
- Liu, Xinxing
- Lao, Kegan
Producer: 20141203
In:
Gene vol. 552
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Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. [electronic resource] by
- Li, Jian
- Harris, R Alan
- Cheung, Sau Wai
- Coarfa, Cristian
- Jeong, Mira
- Goodell, Margaret A
- White, Lisa D
- Patel, Ankita
- Kang, Sung-Hae
- Shaw, Chad
- Chinault, A Craig
- Gambin, Tomasz
- Gambin, Anna
- Lupski, James R
- Milosavljevic, Aleksandar
Producer: 20120926
In:
PLoS genetics vol. 8
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Genome maps across 26 human populations reveal population-specific patterns of structural variation. [electronic resource] by
- Levy-Sakin, Michal
- Pastor, Steven
- Mostovoy, Yulia
- Li, Le
- Leung, Alden K Y
- McCaffrey, Jennifer
- Young, Eleanor
- Lam, Ernest T
- Hastie, Alex R
- Wong, Karen H Y
- Chung, Claire Y L
- Ma, Walfred
- Sibert, Justin
- Rajagopalan, Ramakrishnan
- Jin, Nana
- Chow, Eugene Y C
- Chu, Catherine
- Poon, Annie
- Lin, Chin
- Naguib, Ahmed
- Wang, Wei-Ping
- Cao, Han
- Chan, Ting-Fung
- Yip, Kevin Y
- Xiao, Ming
- Kwok, Pui-Yan
Producer: 20190423
In:
Nature communications vol. 10
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. [electronic resource] by
- Zhao, Yingjie
- Diacou, Alexander
- Johnston, H Richard
- Musfee, Fadi I
- McDonald-McGinn, Donna M
- McGinn, Daniel
- Crowley, T Blaine
- Repetto, Gabriela M
- Swillen, Ann
- Breckpot, Jeroen
- Vermeesch, Joris R
- Kates, Wendy R
- Digilio, M Cristina
- Unolt, Marta
- Marino, Bruno
- Pontillo, Maria
- Armando, Marco
- Di Fabio, Fabio
- Vicari, Stefano
- van den Bree, Marianne
- Moss, Hayley
- Owen, Michael J
- Murphy, Kieran C
- Murphy, Clodagh M
- Murphy, Declan
- Schoch, Kelly
- Shashi, Vandana
- Tassone, Flora
- Simon, Tony J
- Shprintzen, Robert J
- Campbell, Linda
- Philip, Nicole
- Heine-Suñer, Damian
- García-Miñaúr, Sixto
- Fernández, Luis
- Bearden, Carrie E
- Vingerhoets, Claudia
- van Amelsvoort, Therese
- Eliez, Stephan
- Schneider, Maude
- Vorstman, Jacob A S
- Gothelf, Doron
- Zackai, Elaine
- Agopian, A J
- Gur, Raquel E
- Bassett, Anne S
- Emanuel, Beverly S
- Goldmuntz, Elizabeth
- Mitchell, Laura E
- Wang, Tao
- Morrow, Bernice E
Producer: 20200417
In:
American journal of human genetics vol. 106
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A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. [electronic resource] by
- Bengesser, Kathrin
- Cooper, David N
- Steinmann, Katharina
- Kluwe, Lan
- Chuzhanova, Nadia A
- Wimmer, Katharina
- Tatagiba, Marcos
- Tinschert, Sigrid
- Mautner, Victor-Felix
- Kehrer-Sawatzki, Hildegard
Producer: 20100927
In:
Human mutation vol. 31
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Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. [electronic resource] by
- Fullston, Tod
- Gabb, Bronte
- Callen, David
- Ullmann, Reinhard
- Woollatt, Erica
- Bain, Sharon
- Ropers, Hilger H
- Cooper, Matt
- Chandler, David
- Carter, Kim
- Jablensky, Assen
- Kalaydjieva, Luba
- Gecz, Jozef
Producer: 20110517
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 156
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