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De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. [electronic resource] by
- Lee, Jae-Ran
- Srour, Myriam
- Kim, Doyoun
- Hamdan, Fadi F
- Lim, So-Hee
- Brunel-Guitton, Catherine
- Décarie, Jean-Claude
- Rossignol, Elsa
- Mitchell, Grant A
- Schreiber, Allison
- Moran, Rocio
- Van Haren, Keith
- Richardson, Randal
- Nicolai, Joost
- Oberndorff, Karin M E J
- Wagner, Justin D
- Boycott, Kym M
- Rahikkala, Elisa
- Junna, Nella
- Tyynismaa, Henna
- Cuppen, Inge
- Verbeek, Nienke E
- Stumpel, Connie T R M
- Willemsen, Michel A
- de Munnik, Sonja A
- Rouleau, Guy A
- Kim, Eunjoon
- Kamsteeg, Erik-Jan
- Kleefstra, Tjitske
- Michaud, Jacques L
Producer: 20150910
In:
Human mutation vol. 36
Availability: No items available.
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349.
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Motor Cortex Mapping in Patients With Hepatic Myelopathy After Transjugular Intrahepatic Portosystemic Shunt. [electronic resource] by
- Cui, Long-Biao
- Ren, Shuyao
- Xi, Yi-Bin
- Zeng, Ling-Li
- Chen, Gang
- Liu, Kang
- Yu, Tianlei
- He, Chuangye
- Guo, Wengang
- Yin, Zhanxin
- Wang, Zhengyu
- Niu, Jing
- Luo, Bohan
- Hu, Dewen
- Han, Guohong
- Yin, Hong
Producer: 20200413
In:
Academic radiology vol. 26
Availability: No items available.
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Defective mitochondrial mRNA maturation is associated with spastic ataxia. [electronic resource] by
- Crosby, Andrew H
- Patel, Heema
- Chioza, Barry A
- Proukakis, Christos
- Gurtz, Kay
- Patton, Michael A
- Sharifi, Reza
- Harlalka, Gaurav
- Simpson, Michael A
- Dick, Katherine
- Reed, Johanna A
- Al-Memar, Ali
- Chrzanowska-Lightowlers, Zofia M A
- Cross, Harold E
- Lightowlers, Robert N
Producer: 20110124
In:
American journal of human genetics vol. 87
Availability: No items available.
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