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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. [electronic resource] by
- Pater, Justin A
- Green, Jane
- O'Rielly, Darren D
- Griffin, Anne
- Squires, Jessica
- Burt, Taylor
- Fernandez, Sara
- Fernandez, Bridget
- Houston, Jim
- Zhou, Jiayi
- Roslin, Nicole M
- Young, Terry-Lynn
Producer: 20190930
In:
BMC medical genetics vol. 20
Availability: No items available.
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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. [electronic resource] by
- Haywood, Annika F M
- Merner, Nancy D
- Hodgkinson, Kathy A
- Houston, Jim
- Syrris, Petros
- Booth, Valerie
- Connors, Sean
- Pantazis, Antonios
- Quarta, Giovanni
- Elliott, Perry
- McKenna, William
- Young, Terry-Lynn
Producer: 20130919
In:
European heart journal vol. 34
Availability: No items available.
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8.
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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. [electronic resource] by
- Abdelfatah, Nelly
- McComiskey, David A
- Doucette, Lance
- Griffin, Anne
- Moore, Susan J
- Negrijn, Carol
- Hodgkinson, Kathy A
- King, Justin J
- Larijani, Mani
- Houston, Jim
- Stanton, Susan G
- Young, Terry-Lynn
Producer: 20140501
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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9.
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Resolving medulloblastoma cellular architecture by single-cell genomics. [electronic resource] by
- Hovestadt, Volker
- Smith, Kyle S
- Bihannic, Laure
- Filbin, Mariella G
- Shaw, McKenzie L
- Baumgartner, Alicia
- DeWitt, John C
- Groves, Andrew
- Mayr, Lisa
- Weisman, Hannah R
- Richman, Alyssa R
- Shore, Marni E
- Goumnerova, Liliana
- Rosencrance, Celeste
- Carter, Robert A
- Phoenix, Timothy N
- Hadley, Jennifer L
- Tong, Yiai
- Houston, Jim
- Ashmun, Richard A
- DeCuypere, Michael
- Sharma, Tanvi
- Flasch, Diane
- Silkov, Antonina
- Ligon, Keith L
- Pomeroy, Scott L
- Rivera, Miguel N
- Rozenblatt-Rosen, Orit
- Rusert, Jessica M
- Wechsler-Reya, Robert J
- Li, Xiao-Nan
- Peyrl, Andreas
- Gojo, Johannes
- Kirchhofer, Dominik
- Lötsch, Daniela
- Czech, Thomas
- Dorfer, Christian
- Haberler, Christine
- Geyeregger, Rene
- Halfmann, Angela
- Gawad, Charles
- Easton, John
- Pfister, Stefan M
- Regev, Aviv
- Gajjar, Amar
- Orr, Brent A
- Slavc, Irene
- Robinson, Giles W
- Bernstein, Bradley E
- Suvà, Mario L
- Northcott, Paul A
Producer: 20191119
In:
Nature vol. 572
Availability: No items available.
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