Results
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Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. [electronic resource] by
- Qiao, Ying
- Bagheri, Hani
- Tang, Flamingo
- Badduke, Chansonette
- Martell, Sally
- Lewis, Suzanne M E
- Robinson, Wendy
- Connolly, Mary B
- Arbour, Laura
- Rajcan-Separovic, Evica
Producer: 20190305
In:
European journal of medical genetics vol. 62
Availability: No items available.
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Whole exome sequencing of families with 1q21.1 microdeletion or microduplication. [electronic resource] by
- Qiao, Ying
- Badduke, Chansonette
- Tang, Flamingo
- Cowieson, David
- Martell, Sally
- Lewis, Suzanne M E
- Peñaherrera, Maria S
- Robinson, Wendy P
- Volchuk, Allen
- Rajcan-Separovic, Evica
Publication details: American journal of medical genetics. Part A Jul 2017
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation. [electronic resource] by
- Ross, Colin J D
- Liu, Guoqing
- Kuivenhoven, Jan Albert
- Twisk, Jaap
- Rip, Jaap
- van Dop, Willemijn
- Excoffon, Katherine J D Ashbourne
- Lewis, Suzanne M E
- Kastelein, John J
- Hayden, Michael R
Producer: 20060110
In:
Arteriosclerosis, thrombosis, and vascular biology vol. 25
Availability: No items available.
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Understanding the impact of 1q21.1 copy number variant. [electronic resource] by
- Harvard, Chansonette
- Strong, Emma
- Mercier, Eloi
- Colnaghi, Rita
- Alcantara, Diana
- Chow, Eva
- Martell, Sally
- Tyson, Christine
- Hrynchak, Monica
- McGillivray, Barbara
- Hamilton, Sara
- Marles, Sandra
- Mhanni, Aziz
- Dawson, Angelika J
- Pavlidis, Paul
- Qiao, Ying
- Holden, Jeanette J
- Lewis, Suzanne M E
- O'Driscoll, Mark
- Rajcan-Separovic, Evica
Producer: 20120229
In:
Orphanet journal of rare diseases vol. 6
Availability: No items available.
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Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. [electronic resource] by
- Qiao, Ying
- Mondal, Kajari
- Trapani, Valentina
- Wen, Jiadi
- Carpenter, Gillian
- Wildin, Robert
- Price, E Magda
- Gibbons, Richard J
- Eichmeyer, Jennifer
- Jiang, Ruby
- DuPont, Barbara
- Martell, Sally
- Lewis, Suzanne M E
- Robinson, Wendy P
- O'Driscoll, Mark
- Wolf, Federica I
- Zwick, Michael E
- Rajcan-Separovic, Evica
Producer: 20140730
In:
Human mutation vol. 35
Availability: No items available.
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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. [electronic resource] by
- Strømme, Petter
- Mangelsdorf, Marie E
- Shaw, Marie A
- Lower, Karen M
- Lewis, Suzanne M E
- Bruyere, Helene
- Lütcherath, Viggo
- Gedeon, Agi K
- Wallace, Robyn H
- Scheffer, Ingrid E
- Turner, Gillian
- Partington, Michael
- Frints, Suzanna G M
- Fryns, Jean-Pierre
- Sutherland, Grant R
- Mulley, John C
- Gécz, Jozef
Producer: 20020502
In:
Nature genetics vol. 30
Availability: No items available.
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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. [electronic resource] by
- Noor, Abdul
- Whibley, Annabel
- Marshall, Christian R
- Gianakopoulos, Peter J
- Piton, Amelie
- Carson, Andrew R
- Orlic-Milacic, Marija
- Lionel, Anath C
- Sato, Daisuke
- Pinto, Dalila
- Drmic, Irene
- Noakes, Carolyn
- Senman, Lili
- Zhang, Xiaoyun
- Mo, Rong
- Gauthier, Julie
- Crosbie, Jennifer
- Pagnamenta, Alistair T
- Munson, Jeffrey
- Estes, Annette M
- Fiebig, Andreas
- Franke, Andre
- Schreiber, Stefan
- Stewart, Alexandre F R
- Roberts, Robert
- McPherson, Ruth
- Guter, Stephen J
- Cook, Edwin H
- Dawson, Geraldine
- Schellenberg, Gerard D
- Battaglia, Agatino
- Maestrini, Elena
- Jeng, Linda
- Hutchison, Terry
- Rajcan-Separovic, Evica
- Chudley, Albert E
- Lewis, Suzanne M E
- Liu, Xudong
- Holden, Jeanette J
- Fernandez, Bridget
- Zwaigenbaum, Lonnie
- Bryson, Susan E
- Roberts, Wendy
- Szatmari, Peter
- Gallagher, Louise
- Stratton, Michael R
- Gecz, Jozef
- Brady, Angela F
- Schwartz, Charles E
- Schachar, Russell J
- Monaco, Anthony P
- Rouleau, Guy A
- Hui, Chi-Chung
- Lucy Raymond, F
- Scherer, Stephen W
- Vincent, John B
Producer: 20101229
In:
Science translational medicine vol. 2
Availability: No items available.
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