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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. [electronic resource] by
- Kumar, Raman
- Corbett, Mark A
- Smith, Nicholas J C
- Jolly, Lachlan A
- Tan, Chuan
- Keating, Damien J
- Duffield, Michael D
- Utsumi, Toshihiko
- Moriya, Koko
- Smith, Katherine R
- Hoischen, Alexander
- Abbott, Kim
- Harbord, Michael G
- Compton, Alison G
- Woenig, Joshua A
- Arts, Peer
- Kwint, Michael
- Wieskamp, Nienke
- Gijsen, Sabine
- Veltman, Joris A
- Bahlo, Melanie
- Gleeson, Joseph G
- Haan, Eric
- Gecz, Jozef
Producer: 20160113
In:
Human molecular genetics vol. 24
Availability: No items available.
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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. [electronic resource] by
- Kumar, Raman
- Corbett, Mark A
- van Bon, Bregje W M
- Woenig, Joshua A
- Weir, Lloyd
- Douglas, Evelyn
- Friend, Kathryn L
- Gardner, Alison
- Shaw, Marie
- Jolly, Lachlan A
- Tan, Chuan
- Hunter, Matthew F
- Hackett, Anna
- Field, Michael
- Palmer, Elizabeth E
- Leffler, Melanie
- Rogers, Carolyn
- Boyle, Jackie
- Bienek, Melanie
- Jensen, Corinna
- Van Buggenhout, Griet
- Van Esch, Hilde
- Hoffmann, Katrin
- Raynaud, Martine
- Zhao, Huiying
- Reed, Robin
- Hu, Hao
- Haas, Stefan A
- Haan, Eric
- Kalscheuer, Vera M
- Gecz, Jozef
Producer: 20151029
In:
American journal of human genetics vol. 97
Availability: No items available.
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5.
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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. [electronic resource] by
- Kumar, Raman
- Corbett, Mark A
- Van Bon, Bregje W M
- Gardner, Alison
- Woenig, Joshua A
- Jolly, Lachlan A
- Douglas, Evelyn
- Friend, Kathryn
- Tan, Chuan
- Van Esch, Hilde
- Holvoet, Maureen
- Raynaud, Martine
- Field, Michael
- Leffler, Melanie
- Budny, Bartłomiej
- Wisniewska, Marzena
- Badura-Stronka, Magdalena
- Latos-Bieleńska, Anna
- Batanian, Jacqueline
- Rosenfeld, Jill A
- Basel-Vanagaite, Lina
- Jensen, Corinna
- Bienek, Melanie
- Froyen, Guy
- Ullmann, Reinhard
- Hu, Hao
- Love, Michael I
- Haas, Stefan A
- Stankiewicz, Pawel
- Cheung, Sau Wai
- Baxendale, Anne
- Nicholl, Jillian
- Thompson, Elizabeth M
- Haan, Eric
- Kalscheuer, Vera M
- Gecz, Jozef
Producer: 20160920
In:
Human molecular genetics vol. 24
Availability: No items available.
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